Elaine H. Zackai, MD

Elaine H. Zackai, MD, is the Director of Clinical Genetics and the Director of the Clinical Genetics Center at Children's Hospital of Philadelphia. She holds the Letitia B. and Alice Scott Endowed Chair in Human Genetics and Molecular Biology.

Areas of Expertise: Applied clinical research with an emphasis on questions that have arisen from clinical situations
Locations: Main Campus; Specialty Care & Surgery Center, Voorhees

Medical School

MD - New York University School of Medicine, New York, NY

Internship

Pediatrics - Albert Einstein School of Medicine, New York, NY

Residency

Pediatrics - St. Louis Children's Hospital, St. Louis, MO

Fellowship

Medical Genetics - Yale University, New Haven, CT

Board Certification

Clinical Cytogenetics
Pediatrics

Director, Clinical Genetics

Director, Clinical Genetics Center

Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania

Professor of Obstetrics and Gynecology, Perelman School of Medicine at the University of Pennsylvania

Professor of Pediatrics in Genetics, Perelman School of Medicine at the University of Pennsylvania

Klinefelter Syndrome

Papers

2018

Campbell IM, Sheppard SE, Crowley TB, McGinn DE, Bailey A, McGinn MJ, Unolt M, Homans JF, Chen EY, Salmons HI, Gaynor JW, Goldmuntz E, Jackson OA2, Katz LE, Mascarenhas MR, Deeney VFX, Castelein RM, Zur KB, Elden L, Kallish S, Kolon TF, Hopkins SE, Chadehumbe MA, Lambert MP, Forbes BJ, Moldenhauer JS, Schindewolf EM1, Solot CB, Moss EM, Gur RE, Sullivan KE, Emanuel BS, Zackai EH, McDonald-McGinn DM. What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia. Am J Med Genet A. 2018 Oct;176(10):2058-2069. doi: 10.1002/ajmg.a.40637.

Schindewolf E, Khalek N, Johnson MP, Gebb J, Coleman B, Crowley TB, Zackai EH, McDonald-McGinn DM, Moldenhauer JS. Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome. Am J Med Genet A. 2018 Jul 28. doi: 10.1002/ajmg.a.38665. [Epub ahead of print]

Unolt M, Versacci P, Anaclerio S, Lambiase C, Calcagni G, Trezzi M, Carotti A, Crowley TB, Zackai EH, Goldmuntz E, Gaynor JW, Digilio MC, McDonald-McGinn DM, Marino B. Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers. Am J Med Genet A. 2018 Apr 16;. [Epub ahead of print] PMID: 29663641

2017

Unolt M, DiCairano L, Schlechtweg K, Barry J, Howell L, Kasperski S, Nance M, Adzick NS, Zackai EH, McDonald-McGinn DM. Congenital diaphragmatic hernia in 22q11.2 deletion syndrome. Am J Med Genet A. 2017 Jan;173(1):135-142.

2016

Long A, Sinkovskaya ES, Edmondson AC, Zackai E, Schrier Vergano SA: Kabuki syndrome as a cause of non-immune fetal hydrops/ascites. Am J Med Genet A 2016.

Diaz LK, Gaynor JW, Koh SJ, Ittenbach RF, Gerdes M, Bernbaum JC, Zackai EH, Clancy RR, Rehman MA, Pennington JW, Burnham N, Spray TL, Nicolson SC : Increasing cumulative exposure to volatile anesthetic agents is associated with poorer neurodevelopmental outcomes in children with hypoplastic left heart syndrome. J Thorac Cardiovasc Surg 152(2): 482-489, Aug 2016.

Yi JJ, Weinberger R, Moore TM, Calkins M, Guri Y, McDonald-McGinn DM, Zackai EH, Emanuel BS, Gur RE, Gothelf D, Gur RC: Performance on a computerized neurocognitive battery in 22q11.2 deletion syndrome: A comparsion betwee US and Israeli cohorts. Brain Cogn 106: 33-41, Jul 2016.

Wenger TL, Miller JS, DePolo LM, deMarchena AB, Clements CC, Emanuel BS, Zackai EH, McDonald-McGinn DM, Schultz RT: Erratum to: 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening. Mol Autism 7: 34, Jul 13 2016.

Fenwick AL, Kliszczak M, Cooper F, Murray J, Sanchez-Pulido L, Twigg SR, Goriely A, McGowan SJ, Miller KA, Taylor IB, Logan C; WGS500 Consortium, Bozdogan S, Danda S, Dixon J, Elsayed SM, Elsobky E, Gardham A, Hoffer MJ, Koopmans M, McDonald-McGinn DM, Santen GW, Savarirayan R, de Silva D, Vanakker O, Wall SA, Wilson LC, Yuregir OO, Zackai EH, Ponting CP, Jackson AP, Wilkie AO, Niedzwiedz W, Bicknell LS: Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis. Am J Hum Genet 99(1): 125-138, Jul 7 2016.

Lin AE, Michot C, Cormier-Daire V, L'Ecuyer TJ, Matherne GP, Barnes BH, Humberson JB, Edmondson AC, Zackai E, O'Connor MJ, Kaplan JD, Ebeid MR, Krier J, Krieg E, Ghoshhajra B, Lindsay ME: Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome. Am J Med Genet A Page: Doi: 10.1002/ajmg.a.37739. [Epub ahead of print] Jun 14 2016.

Forbes BJ, McDonald-McGinn DM, Wooton G, Dawson L, Zackai E, Binenbaum G: Ocular findings associated with chromosome 22q11.2 duplication. J AAPOS 20(3): 278-80, Jun 2016.

Wenger TL, Miller JS, DePolo LM, de Marchena AB, Clements CC, Emanuel BS, Zackai EH, McDonald-McGinn DM, Schultz RT: 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening. Mol Autism 7: 27, May 6 2016.

Wenger TL, Dahl J, Bhoj EJ, Rosen A, McDonald-McGinn D, Zackai E, Jacobs I, Heike CL, Hing A, Santani A, Inglis AF, Sie KC, Cunningham M, Perkins J: Tracheal cartilaginous sleeves in children with syndromic craniosynostosis. Genet Med Page: doi: 10.1038/gim.2016.60. [Epub ahead of print] May 26 2016.

Tooley M, Lynch D, Bernier F, Parboosingh J, Bhoj E, Zackai E, Calder A, Itasaki N, Wakeling E, Scott R, Lees M, Clayton-Smith J, Blyth M, Morton J, Shears D, Kini U, Homfray T, Carke A, Barnicoat A, Wallis C, Hewitson R, Offiah A, Saunders M, Langton-Hewer S, Hilliar T, Davis P, Smithson S: Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings. Am J Med Genet A 170(5): 1115-1126, May 2016.

Fregeau B, Kim BJ, Hernández-García A, Jordan VK, Cho MT, Schnur RE, Monaghan KG, Juusola J, Rosenfeld JA, Bhoj E, Zackai EH, Sacharow S, Barañano K, Bosch DG, de Vries BB, Lindstrom K, Schroeder A, James P, Kulch P, Lalani SR, van Haelst MM, van Gassen KL, van Binsbergen E, Barkovich AJ, Scott DA, Sherr EH: De novo mutations of RERE cause a genetic syndrome with features that overlap those associated with proximal 1p36 deletions. Am J Hum Genet 98(5): 963-970, May 5 2016.

Chen R, Shi L, Hakenberg J, Naughton B, Sklar P, Zhang J, Zhou H, Tian L, Prakash O, Lemire M, Sleiman P, Cheng WY, Chen W, Shah H, Shen Y, Fromer M, Omberg L, Deardorff MA, Zackai E, Bobe JR, Levin E, Hudson TJ, Groop L, Wang J, Hakonarson H, Wojcicki A, Diaz GA, Edelmann L, Schadt EE, Friend SH: Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. Nat Biotechnol 34(5): 531-538, May 2016.

Mulchandani S, Bhoj EJ, Luo M, Powell-Hamilton N, Jenny K, Gripp KW, Elbracht M, Eggermann T, Turner CL, Temple IK, Mackay DJ, Dubbs H, Stevenson DA, Slattery L, Zackai EH, Spinner NB, Krantz ID, Conlin LK: Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure. Genet Med 18(4): 309-315, April 2016.

Kim DS, Kim JH, Burt AA, Crosslin DR, Burnham N, Kim CE, McDonald-McGinn DM, Zackai EH, Nicolson SC, Spray TL, Stanaway IB, Nickerson DA, Heagerty PJ, Hakonarson H, Gaynor JW, Jarvik GP: Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival. J Thorac Cardiovasc Surg 151(4): 1147-1151, Apr 2016.

Mlynarksi EE, Xie M, Taylor D, Sheridan MB, Guo T, Racedo SE, McDonald-McGinn DM, Chow EWC, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suner D, Goldmuntz E, Bassett AS, Morrow BE, Emanuel BS, and The international Chromsome 22q11.2 Consortium: Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome. Hum Genet 135(3): 273-285, Mar 2016.

Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB, Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, Gripp KW, Grix A, Guion-Almeida ML, Harr MH, Hudson C, Hunter AG, Johnson J, Joss SK, Kimball A, Kini U, Kline AD, Lauzon J, Lildballe DL, López-González V, Martinezmoles J, Meldrum C, Mirzaa GM, Morel CF, Morton JE, Pyle LC, Quintero-Rivera F, Richer J, Scheuerle AE, Schönewolf-Greulich B, Shears DJ, Silver J, Smith AC, Temple IK; UCLA Clinical Genomics Center, van de Kamp JM, van Dijk FS, Vandersteen AM, White SM, Zackai EH, Zou R; Care4Rare Canada Consortium, Bulman DE, Boycott KM, Lines MA: Mandibulofacial dysostosis with microcephaly: mutation and database update. Hum Mutat 37(2): 148-154, Feb 2016.

Derfalvi B, Maurer K, McDonald-McGinn DM, Zackai E, Meng W, Luning Prak ET, Sullivan KE: B cell development in chromosome 22q11.2 deletion syndrome. Clin Immunol 163: 1-9, Feb 2016.

Wenger, T.L., Kao, C., McDonald-McGinn, D.M., Zackai, E.H., Bailey, A., Schultz, R.T., Morrow, B.E., Emanuel, B.S., Hakonarson, H.: The role of mGluR copy number variation in genetic and environmental forms of syndromic autism spectrum disorder. Sci Rep 6: 19372, Jan 19 2016.

Wenger TL, Kao C, McDonald-McGinn DM, Zackai EH, Bailey A, Schultz RT, Morrow BE, Emanuel BS, Hakonarson H: The role of mGluR copy number variation in genetic and environmental forms of syndromic autism spectrum disorder. Sci Rep 6: 19372, Jan 19 2016.

Hestand MS, Nowakowska BA, Vergaelen E, Van Houdt J, Dehaspe L, Del-Favero J, Zackai E, Swillen A, Devriendt K, Gur R, McDonald-McGinn DM, Warren ST, Emanuel BS, Vermeesch JR: A catalog of hemizygous variation in 127 22q11 deletion patients. Hum Genome Var 3: 15065, Jan 14 2016.

2015

Zollino M, Marangi G, Ponzi E, Orteschi D, Ricciardi S, Lattante S, Murdolo M, Battaglia D, Contaldo I, Mercuri E, Stefanini MC, Caumes R, Edery P, Rossi M, Piccione M, Corsello G, Della Monica M, Scarano F, Priolo M, Gentile M, Zampino G, Vijzelaar R, Abdulrahman O, Rauch A, Oneca B, Deardorff MA, Saitta SC, Falk MJ, Dubbs H, Zackai E : Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. J Med Genet 52(12): 804-814, Dec 2015.

McDonald-McGinn DM, Sullivan, K, Marino B, Philip, N, Swillen A, Vortsman, J, Zackai EH, Emanuel B, Vermeesch J, Morrow B, Scambler P, Bassett A : DiGeorge Syndrome Due to a Chromosome 22q11.2 Deletion. Nature Review Page: In Press, 2015.

Luo M, Mulchandani S, Dubbs HA, Swarr D, Pyle L, Zackai EH, Spinner NB, Conlin LK: Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies. Am J Med Genet A 167A(12): 3091-3095, Dec 2015.

Kim DS, Kim JH, Burt AA, Crosslin DR, Burnham N, Kim CE, McDonald-McGinn DM, Zackai EH, Nicolson SC, Spray TL, Stanaway IB, Nickerson DA, Heagerty PJ, Hakonaron H, Gaynor W, Jarvik GP : Burden Of Potentially Pathologic Copy Number Variants Is Higher In Children With Isolated Congenital Heart Disease And Significantly Impairs Covariate-Adjusted Long-Term Survival. J Crainofac Surg. Page: In Press, 2015.

Guo T, Chung JH, Wang T, McDonald-McGinn DM, Kates WR, Hawula W, Coleman K, Zackai E, Emanuel BS : Histone modifier genes after conotruncal heart phenotypes in 22q11.2 deletion syndrome. Am J Hum Genet 97(6): 869-877, Dec 3 2015.

Ahrens-Nicklas RC, Reichert SL, Zackai EH, Kaplan PB: Atypical Williams syndrome in an infant with complete atrioventricular canal defect. Am J Med Genet A 167A(12): 3108-3012, Dec 2015.

Rojnueangnit K, Xie J, Gomes A, Sharp A, Callens T, Chen Y, Liu Y, Cochran M, Abbott MA, Atkin J, Babovic-Vuksanovic D, Barnett CP, Crenshaw M, Bartholomew DW, Basel L, Bellus G, Ben-Shachar S, Bialer MG, Bick D, Blumberg B, Cortes F, David KL, Destree A, Duat-Rodriguez A, Earl D, Escobar L, Eswara M, Ezquieta B, Frayling IM, Frydman M, Gardner K, Gripp KW, Hernandez-Chico C, Heyrman K, Ibrahim J, Janssens S, Keena BA, Llano-Rivas I, Leppig K, McDonald M, Mistra VK, Mulbury J, Narayanan V, Orenstein N, Galvin-Parton P, Pedro H, Pivnick EK, Powell CM, Randolph L, Raskin S, Rosell J, Rubin K, Seashore M, Schaaf CP, Scheuerle A, Schultz M, Schorry E, Schnur R, Siqveland E, Tkachuk A, Tonsgard J, Upadhyaya M, Verma IC, Wallace S, Williams C, Zackai E, Zonana J, Lazaro C, Claes K, Korf B, Martin Y, Legius E, Messiaen L : High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: Genotype-phenotype correlation. Hum Mutat 36(11): 1052-1063, Nov 2015.

Nesbitt A, Bhoj EJ, McDonald Gibson K, Yu Z, Denenberg E, Sarmady M, Tischler T, Cao K, Dubbs H, Zackai EH, Santani A: Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders. Am J Med Genet A 167A(11): 2548-2554, Nov 2015.

Ji J, Lee H, Argiropoulos B, Dorrani N, Mann J, Martinez-Agosto JA, Gomez-Ospina N, Gallant N, Bernstein JA, Hudgins L, Slattery L, Isidor B, Le Caignec C, David A, Obersztyn E, Wisniowiecka-Kowalnik B, Fox M, Deignan JL, Vilain E, Hendricks E, Horton Harr M, Noon SE, Jackson JR, Wilkens A, Mirzaa G, Salamon N, Abramson J, Zackai EH, Krantz I, Innes AM, Nelson SF, Grody WW, Quintero-Rivera F: DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. Eur J Hum Genet 23(11): 1473-1481, Nov 2015.

Bhoj EJ, Li D, Harr MH, Tian L, Wang T, Zhao Y, Qiu H, Kim C, Hoffman JD, Hakonarson H, Zackai EH: Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome. Am J Med Genet A 167A(11): 2497-2502, Nov 2015.

Yi J, Calkins M, Tang S, Kohler C, McDonald-McGinn DM, Zackai EH, Bilker W, Savitt A, Whinna D, Souders M, Emanuel B, Gur R: Impact of psychiatric comorbidity and cognitive deficit on function in 22q11.2 deletion syndrome. J Clin Psychiatry 76(10): 1262-1270, Oct 2015.

Ganetzky R, Izumi K, Edmondson A, Muraresku CC, Zackai E, Deardorff M, Ganesh J: Fetal akinesia deformation sequence due to a congenital disorder of glycosylation. Am J Med Genet A 167A(10): 2411-2417, Oct 2015.

Zarate YA, Bosanko KA, Bhoj E, Ganetzky R, Starr LJ, Zackai EH, Schaefer GB: Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses. Am J Med Genet A 167A(9): 2168-2175, Sep 2015.

Kruszka P, Uwineza A, Mutesa L, Martinez AF, Abe Y, Zackai EH, Ganetzky R, Chung B, Stevenson RE, Adelstein RS, Ma X, Mullikin JC, Hong SK, Muenke M: Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)? Mol Genet Genomic Med 3(5): 424-432, Sep 2015.

Ganetzky R, Finn E, Begchi A, Zollo O, Conlin L, Deardorff M, Harr M, Simpson MA, McGrat JA, Zackai E, Lemmon MA, Sondheimer N: EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features. Mol Genet Genomic Med 3(5): 452-458, Sep 2015.

Van Laarhoven PM, Neitzel LR, Quintana AM, Geiger EA, Zackai EH, Clouthier DE, Artinger KB, Ming JE, Shaikh TH: Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. Hum Mol Genet 24(15): 4443-4453, Aug 1 2015.

Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A; DDD Study, Dijkstra S, Schieving J, Giltay J, van Gassen KL, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalsheuer V, Mehta SG, Katsanis N, Kleefstra T: Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling. Am J Hum Genet 97(2): 343-352, Aug 2015.

Wenger TL, Harr M, Ricciardi S, Bhoj E, Santani A, Adam MP, Barnett SS, Ganetzky R, McDonald-McGinn DM, Battaglia D, Bigoni S, Selicorni A, Sorge G, Monica MD, Mari F, Andreucci E, Romano S, Cocchi G, Savasta S, Malbora B, Marangi G, Garavelli L, Zollino M, Zackai EH: CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases. Am J Med Genet A 167(7): 1682-1683, Jul 2015.

Tahiri Y, Bastidas N, McDonald-McGinn DM, Birgfeld C, Zackai EH, Taylor J, Bartlett SP: New pattern of sutural synostosis associated with TWIST gene mutation and Saethre-Chotzen syndrome: Peace sign synostosis. J Craniofac Surg 26(5): 1564-1567, Jul 2015.

Schmitt JE, Vandekar S, Yi J, Calkins ME, Ruparel K, Roalf DR, Whinna D, Souders, MC, Satterthwaite TD, Prabhakaran K, McDonald-Mcginn DM, Zackai EH, Gur RC, Emanuel BS, Gur RE: Aberrant cortical morphometry in the 22q11.2 deletion syndrome. Bio Psychiatry 78(2): 135-43, July 2015.

Li MH, Arndt K, Das S, Weiss EM, Wu Y, Gwal K, Shekdar KV, Zackai EH: Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive, and speech delay. Am J Med Genet A 167(6): 1414-7, Jun 2015.

Weaver DD, Norby AR, Rosenfeld JA, Proud VK, Spangler BE, Ming JE, Chisholm E, Zackai EH, Lee BH, Edelmann L, Desnick RJ: Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III). Am J Med Genet A 167A(5): 1061-70, May 2015.

Mlynarski E, Sheridan M, Xie M, Guo T, Racedo S, McDonald-McGinn D, Gai X, Chow E, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio M, Marino M, Dallapiccola D, Philip N, Roberts A, Simon T, Piotrowicz M, Bearden C, Eliez S, Doron G, Coleman K, Kates W, Devoto M, Zakcai E, Heine-Suňer, Shaikh T, Bassett A, Goldmuntz E, Morrow B, Emanuel B. : Copy number variation of the glucose transport gene SLC2A3 and congenital heart defects in the 22q11.2 deletion syndrome. Am J Hum Genet 96(5): 753-764, May 2015.

Gaynor JW, Stopp C, Wypij D, Andropoulos DB, Atallah J, Atz AM, Beca J, Donofrio MT, Duncan K, Ghanayem NS, Goldberg CS, Hövels-Gürich H, Ichida F, Jacobs JP, Justo R, Latal B, Li JS, Mahle WT, McQuillen PS, Menon SC, Pemberton VL, Pike NA, Pizarro C, Shekerdemian LS, Synnes A, Williams I, Bellinger DC, Newburger JW; International Cardiac Collaborative on Neurodevelopment (ICCON) Investigators.: Neurodevelopmental outcomes after cardiac surgery in infancy. Pediatrics 135(5): 816-825, May 2015.

Porstman, J.A., Breetvelt, E.J., Duijff, S.N., Eliez, S., Schneider, M., Jalbrzikowski, M., Armando, M., Vicari, S., Shashi, V., Hooper, S.R., Chow, E.W., Fung, W.L., Butcher, N.J., Young, D.A., McDonald-McGinn, D.M., Vogels, A., van Amelsvoort, T., Gothelf, D., Weinberger, R., Weizman, A., Klaassen, P.W., Koops, S., Kates, W.R., Antshel, K.M., Simon TJ, Ousley OY, Swillen A, Gur RE, Bearden CE, Kahn RS, Bassett AS; International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome, 23 collaborators: Emanuel, B.S., Zackai, E.H., Kurshan, K., Fremont, W., Schoch, K., Stoddard, J., Cubells, J., Fu, F., Campbell, L.E., Fritsch, R., Vergaelen, E., Neeleman, M., Magnus, R., Boot, E., Debbane M., Philip, N., Green, T., van den Bree, M.D., Mur phy, D., Canyelles, J.M., Arango, C., Murphy, K.C., Pontillo, M.: : Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome. JAMA Psychiatry. 72(4): 377-385, Apr 2015.

Wenger TL, Bhoj E, Wetmore RF, Mennuti MT, Bartlett SP, Mollen TJ, McDonald-Mcginn DM, Zackai EH: Beare-Stevenson syndrome: Two new patients, including a novel finding of tracheal cartilaginous sleeve. Am J Med Genet A 167A(4): 852-7, Apr 2015.

Reichert SC, Zelley K, Nichols KE, Eberhard M, Zackai EH, Martinez-Poyer J: Diagnosis of 9q22.3 microdeletion syndrome in utero following identification of craniosynostosis, overgrowth, and skeletal anomalies. Am J Med Genet A 167A(4): 862-5, Apr 2015.

Quintero-Rivera F, Xi QJ, Keppler-Noreuil KM, Lee JH, Higgins AW, Anchan RM, Roberts AE, Seong IS, Fan X, Lage K, Lu LY, Tao J, Hu X, Berezney R, Gelb BD, Kamp A, Moskowitz IP, Lacro RV, Lu W, Morton CC, Gusella JF, Maas RL: MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus. Hum Mol Genet 24(8): 2375-89, Apr 2015.

Izumi K, Nakato R, Zhang Z, Edmondson AC, Noon S, Dulik MC, Rajagopalan R, Venditti CP, Gripp K, Samanich J, Zackai EH, Deardorff MA, Clark D, Allen JL, Dorsett D, Misulovin Z, Komata M, Bando M, Kaur M, Katou Y, Shirahige K, Krantz ID: Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. Nat Genet 47(4): 338-44, Apr 2015.

Tham E, Lindstrand A, Santani A, Malmgren H, Nesbitt A, Dubbs HA, Zackai EH, Parker MJ, Millan F, Rosenbaum K, Wilson GN, Nordgren A: Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. Am J Hum Genet 96(3): 507-13, Mar 2015.

Stransky C, Basta M, McDonald-McGinn DM, Solot CB, Drummond D, Zackai E, Larossa D, Kirschner R, Jackson O: Perioperative risk factors in patients with 22q11.2 deletion syndrome requiring surgery for velopharyngeal dysfunction. Cleft Palate Craniofac J 52(2): 183-91, Mar 2015.

Li MH, Eberhard M, Mudd P, Javia L, Zimmerman R, Khalek N, Zackai EH: Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome. Am J Med Genet A 167A(3): 617-20, Mar 2015.

Kadhim M, Deardorff MA, Dubbs H, Zackai EH, Dormans JP: Melorheostosis: segmental osteopoikilosis or a separate entity? J Pediatr Orthop 35(2): e13-7, Mar 2015.

Racedo SE, McDonald-McGinn DM, Chung JH, Goldmuntz E, Zackai E, Emanuel BS, Zhou B, Funke B, Morrow BE: Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation. Am J Hum Genet 96(2): 235-44, Feb 2015.

Kruszka P, Li D, Harr MH, Wilson NR, Swarr D, McCormick EM, Chiavacci RM, Li M, Martinez AF, Hart RA, McDonald-McGinn DM, Deardorff MA, Falk MJ, Allanson JE, Hudson C, Johnson JP, Saadi I, Hakonarson H, Muenke M, Zackai EH. : Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome. J Med Genet 52(2): 104-10, Feb 2015.

Gripp KW, Robbins KM, Sobreira NL, Witmer PD, Bird LM, Avela K, Makitie O, Alves D, Hogue JS, Zackai EH, Doheny KF, Stabley DL, Sol-Church K : Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. Am J Med Genet A 167A(2): 271-81, Feb 2015.

2014

Basta MN, Silvestre J, Stransky C, Solot C, Cohen M, McDonald-McGinn D, Zackai E, Kirschner R, Low DW, Randall P, LaRossa D, Jackson OA: A 35-year experience with syndromic cleft palate repair: Operative outcomes and long-term speech function. Ann Plast Surg 73(Suppl 2): S130-5, Dec 2014.

Schmitt JE, Yi JJ, Roalf DR, Loevner LA, Ruparel K, Whinna D, Souders MC, McDonald-McGinn DM, Yodh E, Vandekar S, Zackai EH, Gur RC, Emanuel BS, Gur RE : Incidental radiologic findings in the 22q11.2 deletion syndrome. Am J Neuroradiol 35(11): 2186-91, Nov 2014.

Mirzaa GM, Enyedi L, Parsons G, Collins S, Medne L, Adams C, Ward T, Davitt B, Bicknese A, Zackai E, Toriello H, Dobyns WB, Christian S: Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature. Am J Med Genet A 164A(11): 2879-86, Nov 2014.

Gur RE, Yi JJ, McDonald-McGinn DM, Tang SX, Calkins ME, Whinna D, Souders MC, Savitt A, Zackai EH, Moberg PJ, Emanuel BS, Gur RC.: Neurocognitive development in 22q11.2 deletion syndrome: comparison with youth having developmental delay and medical comorbidities. Mol Psychiatry 19(11): 1205-11, Nov 2014.

Tang SX, Yi JJ, Moore TM, Calkins ME, Kohler CG, Whinna DA, Souders MC, Zackai EH, McDonald-McGinn DM, Emanuel BS, Bilker WB, Gur RC, Gur RE: Subthreshold psychotic symptoms in 22q11.2 deletion syndrome. J Am Acad Child Adolesc Psychiatry 53(9): 991-1000, Sept 2014.

Kennedy WP, Mudd PA, Maguire AA, Souders MC, McDonald-McGinn DM, Marcus CL, Zackai EH, Solot CB, Mason TB, Jackson OA, Elden LM: 22q11.2 deletion syndrome and obstructive sleep apnea. Int J Pediatr Otorhinolaryngol 78(8): 1360-4, Aug 2014.

Lynch DC, Revil T, Schwartzentruber J, Bhoj EJ, Innes AM, Lamont RE, Lemire EG, Chodirker BN, Taylor JP, Zackai EH, McLeod DR, Kirk EP, Hoover-Fong J, Fleming L, Savarirayan R, Care4Rare Canada, Majewski J, Jerome-Majewska LA, Parboosingh JS, Bernier FP: Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome. Nat Commun 5: 4483, July 2014.

Kim DS, Kim JH, Burt AA, Crosslin DR, Burnham N, McDonald-McGinn DM, Zackai EH, Nicolson SC, Spray TL, Stanaway IB, Nickerson DA, Russell MW, Hakonarson H, Gaynor JW, Jarvik GP: Patient genotypes impact survival after surgery for isolated congenital heart disease. Ann Thorac Surg 98(1): 104-10, July 2014.

Schneider M, Debbané M, Bassett AS, Chow EW, Fung WL, van den Bree MB, Owen M, Murphy KC, Niarchou M, Kates WR, Antshel KM, Fremont W, McDonald-McGinn DM, Gur RE, Zackai EH, Vorstman J, Duijff SN, Klaassen PW, Swillen A, Gothelf D, Green T, Weizman A, Van Amelsvoort T, Evers L, Boot E, Shashi V, Hooper SR, Bearden CE, Jalbrzikowski M, Armando M, Vicari S, Murphy DG, Ousley O, Campbell LE, Simon TJ, Eliez S; for the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome.: Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: Results from the International Consortium on Brain and Behavior in 22q11.2 deletion syndrome. Am J Psychiatry 171(6): 627-39, Jun 2014.

Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, Yang Y, Gibbs RA: De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet 94(5): 784-9, May 2014.

Yu HC, Geiger EA, Medne L, Zackai EH, Shaikh TH.: An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B. Am J Med Genet A 164A(4): 950-7, Apr 2014.

Tang SX, Yi JJ, Calkins ME, Whinna DA, Kohler CG, Souders MC, McDonald-McGinn DM, Zackai EH, Emanuel BS, Gur RC, Gur RE: Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreated. Psychol Med 44(6): 1267-77, Apr 2014.

Gaynor JW, Ittenbach RF, Gerdes M, Bernbaum J, Clancy RR, McDonald-McGinn DM, Zackai EH, Wernovsky G, Nicolson SC, Spray TL.: Neurodevelopmental outcomes in preschool survivors of the Fontan procedure. J Thorac Cardiovasc Surg 147(4): 1276-82, April 2014.

Yi JJ, Tang SX, McDonald-McGinn DM, Calkins ME, Whinna DA, Souders MC, Zackai EH, Goldmuntz E, Gaynor JW, Gur RC, Emanuel BS, Gur RE.: Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome. Am J Med Genet B Neuropsychiatr Genet 165B(2): 137-47, Mar 2014.

Johnston JJ, Sapp JC, Curry C, Horton M, Leon E, Cusmano-Ozog K, Dobyns WB, Hudgins L, Zackai E, Biesecker LG: Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. Am J Med Genet A 164A(1): 120-8, Jan 2014.

2013

Schanze Denny, Harakalova Magdalena, Stevens Cathy A, Brancati Francesco, Dallapiccola Bruno, Farndon Peter, Ferraz Victor E F, McDonald-McGinn Donna M, Zackai Elaine H, Wright Michael, van Lieshout Stef, Vogel Maartje J, van Haelst Mieke M, Zenker Martin: Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders. American journal of medical genetics. Part A 161A(12): 3012-7, Dec 2013.

Schanze D, Harakalova M, Stevens CA, Brancati F, Dallapiccola B, Farndon P, Ferraz VE, McDonald-McGinn DM, Zackai EH, Wright M, van Lieshout S, Vogel MJ, van Haelst MM, Zenker M.: Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders. Am J Med Genet A 161A: 3012-7, Dec 16 2013.

Schanze D, Harakalova M, Stevens CA, Brancati F, Dallapiccola B, Farndon P, Ferraz VE, McDonald-McGinn DM, Zackai EH, Wright M, van Lieshout S, Vogel MJ, van Haelst MM, Zenker M: Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders. Am J Med Genet 161A(12): 3012-7, Dec 2013.

Pasick Christina, McDonald-McGinn Donna M, Simbolon Christine, Low David, Zackai Elaine, Jackson Oksana: Asymmetric crying facies in the 22q11.2 deletion syndrome: implications for future screening. Clinical pediatrics 52(12): 1144-8, Dec 2013.

Izumi Kosuke, Lippa Andrew M, Wilkens Alisha, Feret Holly A, McDonald-McGinn Donna M, Zackai Elaine H: Congenital heart defects in oculodentodigital dysplasia: Report of two cases. American journal of medical genetics. Part A 161A(12): 3150-4, Dec 2013.

Izumi Kosuke, Housam Ryan, Kapadia Chirag, Stallings Virginia A, Medne Livija, Shaikh Tamim H, Kublaoui Bassil M, Zackai Elaine H, Grimberg Adda: Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features. American journal of medical genetics. Part A 161A(12): 3137-43, Dec 2013.

Izumi K, Lippa AM, Wilkens A, Feret HA, McDonald-McGinn DM, Zackai EH.: Congenital heart defects in oculodentodigital dysplasia: Report of two cases. Am J Med Genet A 161A(12): 3150-4, Dec 2013.

Izumi K, Lippa AM, Wilkens A, Feret HA, McDonald-McGinn DM, Zackai EH : Congenital heart defects in oculodentodigital dysplasia: Report of two cases. Am J Med Genet 161A(12): 3150-4, Dec 2013.

Izumi K, Housam R, Kapadia C, Stallings VA, Medne L, Shaikh TH, Kublaoui BM, Zackai EH, Grimberg A.: Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features. Am J Med Genet A. 161A: 2127-43, Dec 16 2013.

Delio, M., Jalbrzikowski, M., Bearden, C.E., Bailey, A., Vangkilde, A., Olsen, L., Olesen, C., Skovby, F., Werge, T.M., Templin, L., Busa, T., Guo, T., Philip, N., Swillen, A., Vermeesch, J.R., Devriendt, K., Schneider, M., Dahoun, S., Eliez, S., Schoch, K., Hooper, S.R., Shashi, V., McDonald-McGinn, D.M., Samanich, J., Marion, R., van Amelsvoort, T., Boot, E., Klaassen, P., Duijff, S.N.,; Vorstman, J., Yuen, T., Silversides, C., Chow, E., Zackai, E., Bassett, A., Frisch, A., Weizman, A., Gothelf, D., Niarchou, M., van den Bree, M., Owen, M.J., Suñer, D.H., Andreo, J.R., Armando, M., Herman, S., Vicari, S., Digilio, M.C., Auton, A., Kates, W.R., Wang, T., Shprintzen, R.J., Emanuel, B.S., Morrow, B.E., Kaminetzky, M., Higgins, A.M., Coleman, K., Chow, C.: (2013) Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes. American Journal of Human Genetics. ;92:637-637. PMCID: PMC3617376: Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes. Am J Hum Genet 92: 637, 2013.

Swarr DT, Khalek N, Treat J, Horton MA, Mirzaa GM, Riviere JB, Dobyns, Zackai EH : Expanding the differential diagnosis of fetal hydropsian unusual prenatal presentation of megaloencephaly- capillary malformation syndrome. Prenat Diagn 33(10): 1010-1012, Oct 2013.

Gripp KW, Zand DJ, Demmer L, Anderson CE, Dobyns WB, Zackai EH, Denenberg E, Jenny K, Stabley DL, Sol-Church K: Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis. Am J Med Genet A 161A(10): 2420-30, Oct 2013.

Tang SX, Yi JJ, Calkins ME, Whinna DA, Kohler CG, Souders MC, McDonald-McGinn DM, Zackai EH, Emanuel BS, Gur RC, Gur RE.: Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreated. Psychol Med. (9), 1-11, Sep 2013.

Bhoj E, Halbach S, McDonald-McGinn D, Tan C, Lande R, Waggoner D, Zackai E: Expanding the spectrum of microdeletion 4q21 syndrome: A partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and Pierre Robin sequence. Am J Med Genet A 161A(9): 2327-33, Sep 2013.

Bhoj E, Dubbs H, McDonald-McGinn D, Zackai E: Late-onset partial complex seizures secondary to cortical dysplasia in a patient with maternal vitamin K deficient embryopathy: Comments on the article by Toriello et al. [2013] and first report of the natural history. Am J Med Genet A 161A(9): 2396-8, Sep 2013.

Kalish Jennifer M, Conlin Laura K, Bhatti Tricia R, Dubbs Holly A, Harris Mary Catherine, Izumi Kosuke, Mostoufi-Moab Sogol, Mulchandani Surabhi, Saitta Sulagna, States Lisa J, Swarr Daniel T, Wilkens Alisha B, Zackai Elaine H, Zelley Kristin, Bartolomei Marisa S, Nichols Kim E, Palladino Andrew A, Spinner Nancy B, Deardorff Matthew A: Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy. American journal of medical genetics. Part A 161A(8): 1929-39, Aug 2013.

Kalish JM, Conlin LK, Bhatti TR, Dubbs HA, Harris MC, Izumi K, Mostoufi-Moab S, Mulchandani S, Saitta S, States LJ, Swarr DT, Wilkens AB, zackai EH, Zelley K, Bartolomei MS, Nichols KE, Palladino AA, Spinner NB, Deardorff MA: Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy. Am J Med Genet A 161A(8): 1929-39, Aug 2013.

Corsten-Janssen N, Saitta SC, Hoefsloot LH, McDonald-McGinn DM, Driscoll DA, Derks R, Dickinson KA, Kerstjens-Frederikse WS, Emanuel BS, Zackai EH, van Ravenswaaij-Arts CM.: More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated. Mol Syndromol. 4(5): 235-45, June 1 2013.

Reinstein E, Frentz S, Morgan T, Garcia-Minaur S, Leventer FJ, McGillivray G, Pariani M, van der Steen A, Pope M, Holder-Espinasse M, Soctt R, Thompson EM, Robertson T, Coppin B, Siegel R, Zurita MB, Rodriguez JI, Morales C, Rodrigues Y, Arcas J, Saggar A, Horton M, Zackai E, Graham JM, Rimoin DL, Robertson SP : Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A. Eur J Hum Genet 21(5): 494-502, May 2013.

Yi JJ, Tang SX, McDonald-McGinn DM, Calkins ME, Whinna DA, Souders MC, Zackai EH, Goldmuntz E, Gaynor JW, Gur RC, Emanuel BS, Gur RE : Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome. Am J Med Genet Part B (2), 137-147, March 2013.

Nathanson J, Swarr DT, Singer A, Liu M, Chinn A, Jones W, Hurst J, Khalek N, Zackai E, Slavotinek A: Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome. Am J Med Genet A 161A(3): 473-478, Mar 2013.

Akizu Naiara, Shembesh Nuri M, Ben-Omran Tawfeg, Bastaki Laila, Al-Tawari Asma, Zaki Maha S, Koul Roshan, Spencer Emily, Rosti Rasim Ozgur, Scott Eric, Nickerson Elizabeth, Gabriel Stacey, da Gente Gilberto, Li Jiang, Deardorff Matthew A, Conlin Laura K, Horton Margaret A, Zackai Elaine H, Sherr Elliott H, Gleeson Joseph G: Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. American journal of human genetics 92(3): 392-400, Mar 2013.

Akizu N, Shembesh NM, Ben-Omran T, Bastaki L, Al-Tawari A, Zaki MS, Koul R, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, da Gente G, Li J, Deardorff MA, Conlin LK, Horton MA, Zackai EH, Sherr EH, Gleeson JG.: Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. Am J Hum Genet 92(3): 392-400, Mar 2013.

Murray Brittney, Wagle Rohan, Amat-Alarcon Nuria, Wilkens Alisha, Stephens Paul, Zackai Elaine H, Goldmuntz Elizabeth, Calkins Hugh, Deardorff Matthew A, Judge Daniel P: A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome. American journal of medical genetics. Part A 161A(2): 371-6, Feb 2013.

Murray B, Wagle R, Amat-Alarcon N, Wilkens A, Stephens P, Zackai EH, Goldmuntz E, Calkins H, Deardorff MA*, Judge DP*. : A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome. Am J Med Genet A. 161A(2): 371-9, Feb 2013 Notes: *corresponding author.

McDonald-McGinn DM, Fahiminiya S, Revil T, Nowakowska BA, Suhl J, Bailey A, Mlynarksi E, Lynch DR, Yan AC, Bilaniuk LT, Sullivan KE, Warren ST, Emanuel BS, Vermeesch JR, Zackai EH, Jerome-Majewsaka LA : Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS. J Med. Genet 50(29): 80-90, Feb 2013.

2012

Longoni M, Lage K, Russell MK, Loscertales M, Abdul-Rahman OA, Baynam G, Bleyl SB, Brady PD, Breckpot J, Chen CP, Devriendt K, Gillessen-Kaesbach G, Grix AW, Rope AF, Shimokawa O, Strauss B, Wieczorek D, Zackai EH, Coletti CM, Maalouf FI, Noonan KM, Park JH, Tracy AA, Lee C, Donahoe PK, Pober BR.: Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks. Am J Med Genet A. 158A(12): 3148-58, Dec 16 2012.

Izumi K, Santani AB, Deardorff MA, Feret HA, Tischler T, Thiel BD, Mulchandani S, Stolle CA, Spinner NB, Zackai EH, Conlin LK : Mosaic Maternal Uniparental Disomy of Chromosome 15 in Prader-Willi syndrome: Utility of Single Nucleotide Polymorphism Genome Wide Array. Am J Med Genet 161A(1): 166-171, Dec 2012.

Heimall J, Keller M, Saltzman R, Bunin N, McDonald-McGinn D, Zackai E, de Villartay JP, Moshous D, Ariue B, McCarthy EA, Devlin BH, Parikh S, Buckley RH, Markert ML : Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency. J Clin Immunol 32(5): 1141-1144, 2012.

Izumi K, Conlin LK, Berrodin D, Fincher C, Wilkens A , Haldeman-Englert C, Saitta SC, Spinner NB, Krantz ID : Duplication 12p and Pallister-Killian Syndrome: A Case Report and Review of the Literature Towards Defining a Pallister-Killian Syndrome Minimal Critical Region. Am J Med Genet. 158A(12): 3033-3045, Nov 2012.

Habel A, McGinn MJ 2nd, Zackai EH, Unanue N, McDonald-McGinn DM: Syndrome-specific growth charts for 22q11.2 deletion syndrome in Caucasian children. Am J Med Genet A 158A(11): 2665-2671, Nov 2012.

Conlin LK, Kaur M, Izumi K, Close L, Wilkens A, Clark D, Deardorff MA, Zackai EH, Pallister P, Hakonarson H, Spinner NB, Krantz ID : Utility of SNP Arrays in Detecting, Quantifying, and Determining Meiotic Origin of Tetrasomy 12p in Blood from Individuals with Pallister-Killian Syndrome. S. Am J Med Genet. 158A(12): 3046-3053, Nov 2012.

Herman SB, Guo T, McGinn DM, Blonska A, Shanske AL, Bassett AS, Chow EW, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon T, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Zackai E, Wang T, Shprintzen R, Emanuel BS, Morrow BE; International Chromosome 22q11.2 Consortium: Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Am J Med Genet 158A(11): 2781-7, Oct 2012.

Kim DS, Stanaway IB, Rajagopalan R, Bernbaum JC, Solot CB, Burnham N, Zackai EH, Clancy RR, Nicolson SC, Gerdes M, Nickerson DA, Hakonarson H, Gaynor JW, Jarvik GP.: Results of genome-wide analyses on neurodevelopmental phenotypes at four-year follow-up following cardiac surgery in infancy. PLoS One 7(9): e45936, Sept 25 2012.

Izumi K., Brooks SS., Feret FA., Zackai EH : 1.9Mb Microdeletion of 21q22.11 within Braddock-Carey Contiguous Gene Deletion Syndrome Region: Dissecting the Phenotype. Am J Med Genet 158A(7): 1535-1541, May 2012.

Sparrow DB, Chapman G, Smith AJ, Mattar MZ, Major JA, O'Reilly VC, Saga Y, Zackai EH, Dormans JP, Alman BA, McGregor L, Kageyama R, Kusumi K, Dunwoodie SL (: A mechanism for gene-environment interaction in the etiology of congenital soliosis. Cell 149: 295-306, Apr 2012.

Haldeman-Englert CR, Biser A, Zackai EH, Ming JE: Revision of "A 223-kb de novo deletion of PAX9 in a patient with oligodontia". J Craniofac Surg 23(2): e149-151, Apr 2012.

Haldeman-Englert CR, Biser A, Zackai EH, Ming JE.: Revision of "A 223-kb de novo deletion of PAX9 in a patient with oligodontia". J Craniofac Surg. 23(2): e159-51, Marc 2012.

2011

Spencer E, Davis J, Mikhail F, Fu C, Vijzelaar R, Zackai EH, Feret H, Meyn MS, Shugar A, Bellus G, Kocsis K, Kivirikko S, Poyhonen M, Messiaen L : Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR. Am J Med Genet 155A(6): 1352-1359, 2011.

Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn Em, Peters K, Turner J, Cannons JL, Bick D, Blakemore L, Blumhorst C, Brockmann K, Calder P, Cherman N, Deardorff MA, Everman DB, Golas G, Greenstein RM, Kato BM, Keppler-Noreuil KM, Kuznetsov SA, Miyamoto RT, Newman K, Ng D, O'Brien K, Rothenberg S, Schwartzentruber DJ, Singhal PG, Schwartzberg PL, Darling TN, Tosi LL, Mulikin JC, Biescecker LG : A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med 365(7): 611-619, 2011.

Kallish S, McDonald-McGinn DM, van Haelst MM, Bartlett SP, Katowitz JA, Zackai EH. : Ablepharon-Macrostomia syndrome--extension of the phenotype. Am J Med Genet A. 155A(12): 3060-2, Dec 16 2011.

Jawad AF, Prak EL, Boyer J, McDonald-McGinn DM, Zackai E, McDonald K, Sullivan KE : A prospective study of influenza vaccination and a comparison of immunologic parameters in children and adults with chromosome 22q11.2 deletion syndrome. J Clin Immunol 316: 927-935, 2011.

Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Kurosawa K, Hou Jw, Ohta T, Liang D, Sudo A, Morris CA, Banka S, Black GC, Clayton-Smith J, Nickerson DA, Zackai EH, Shaikh TH, Donnai D, Niikawa N, Shendure J, Bamshad MJ : Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet 155A(7): 1511-1516, 2011.

Guo T, McDonald-McGinn D, Blonska A, Shanske A, Bassett AS, Chow E, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon TJ, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Goldmuntz E, Zackai E, Wang T, Shprintzen R, Emanuel B, Morrow B: Chromosome 22q11.2 Consortium. Genotype and Cardiovascular Phenotype Correlations with TBX1 in 1,022 Velo-Cardio-Facil/DiGeorge/22q11.1 Deletion Syndrome Patients. Hum Mutat 32(1): 1278-89, 2011.

Goldenberg PC, Calkins ME, Richard J, McDonald-McGinn D, Zackai E, Mitra N, Emanuel B, Devoto M, Borgmann-Winter K, Kohler C, Conroy CG, Gur RC, Gur RE : Computerized neurocognitive profile in young people with 22q11.2 deletion syndrome compared to youths with schizophrenia and at-risk for psychosis. Am J Med Genet Neuropsychiatr Genet 159B(1): 87-93, 2011.

Daber R, Chapman KA, Ruchelli E, Kasperki S, Mulchandani S, Thiel BD, Hakonarson H, Zackai EH, Conlin LK, Spinner NB : Mosaic trisomy 17: variable clinical and cytogenetic presentation. Am J Med Genet 155A(10): 2489-2495, 2011.

Burkardt DD, Rosenfeld JA, Helgeson ML, Angle B, Banks V, Smith WE, Gripp KW, Moline J, Moran RT, Niyazov DM, Stevens CA, Zackai E, Lebel RR, Ashley DG, Kramer N, Lachman RS, Graham MJ Jr.: Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25. Am J Med Genet 155A(6): 1336-1351, 2011.

Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A, Marino B, Oskarsdottir S, Philip N, Sullivan K, Swillen A, Vorstman J; International 22q11.2 Deletion Syndrome Consortium : Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr 159(2): 332-339, 2011.

Boyadjiev S, Kim SD, Hata A, Haldeman-Englert C, Zackai E, Naydenov C, Hamamoto S, Schekman R, Kim J : Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion. Clin Genet 80(2): 169-176, Aug 2011.

Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A, Marino B, Oskarsdottir S, Philip N, Sullivan K, Swillen A, Vorstman J; International 22q11.2 Deletion Syndrome Consortium.: Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. 159(2): 332-9. Aug 2011.

Balasubramanian M, Smith K, Basel-Vanagaite L, Feingold MF, Brock P, Gowans GC, Vasudevan PC, Creswell L, Taylor EJ, Harris CJ, Friedman N, Morgan R, Feret H., Zackai EH, Theisen A, Rosenfeld JA, Parker MJ : Case series: 2q33.1 microdeletion syndrome - further delineation of the phenotype. J Med Genet 48(5): 290-298, May 2011.

Balasubramanian M, Smith K, Basel-Vanagaite L, Feingold MF, Brock P, Gowans GC, Vasudevan PC, Cresswell L, Taylor EJ, Harris CJ, Friedman N, Moran R, Feret H, Zackai EH, Theisen A, Rosenfeld JA, Parker MJ.: Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype. J Med Genet. 48(5): 190-8, May 11 2011.

2010

Zemble R, Luning Prak E, McDonald K, McDonald-McGinn D, Zackai E, Sullivan K: Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Immunol 136(3): 409-418, 2010.

Theisen A, Rosenfeld JA, Shane K, McBride KL, Atkin JF, Gaba C, Hoo J, Kurczynski TW, Schnur RE, Coffey LB, Zackai EH, Schimmenti L, Friedman N, Zabukovec M, Ball S, Pagon R, Lucas A, Brasington CK, Spence JE, Sparks S, Banks V, Smith W, Friedberg T, Wyatt PR, Aust M, Tervo R, Crowley A, Skidmore D, Lamb AN, Ravnan B, Sahoo T, Schultz R, Torchia BS, Sgro M, Chitayat D, Shaffer LG.: Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1. Mol Syndromol. 1(5): 262-271, 2010.

Sheridan MB, Kato T, Haldeman-Englert C, Jalali CG, Milunsky JM, Zou Y, Klaes R, Gimelli G, Gimelli S, Gemmill RM, Drabkin HA, Hacker AM, Brown J, Tomkins D, Shaikh TH, Kurahashi H, Zackai EH, Emanuel BS : A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: The t(8;22) (q24.13;q11.21). Am J Hum Genet 87(2): 209-210, 2010.

Sampson MG, Coughlin CR II, Kaplan P, Conlin LK, Meyers KE, Zackai EH, Spinner NB, Copelovitch L : Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. Amer J Med Genet 152A(10): 2618-2622, 2010.

Ohye T, Inagaki H, Kogo H, Tsutsumi M, Kato T, Tong M, Macville MV, Medne L, Zackai EH, Emanuel BS, Kurahashi H : Paternal origin of the de novo constitutional t(11;22)(q23;q11). Eur J Hum Genet 187(7): 783-787, 2010.

McDonald-McGinn DM, Feret H, Nah HD, Bartlett SP, Whitaker LA, Zackai EH : Metopic craniosynostosis due to mutations in GLI3: A novel association. Am J Med Genet 152A(7): 1654-1660, 2010.

Haldeman-Englert CR, Chapman KA, Kruger H, Geiger EA, McDonald-McGinn DM, Rappaport E, Zackai EH, Spinner NB, Shaikh TH : A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21. Am J Med Genet 152A(19): 196-202, 2010.

Haldeman-Englert CR, Biser A, Zackai EH, Ming JE: A 223-kb de novo deletion of PAX9 in a patient with oligodontia. J Craniofac Surg 21(3): 837-930, 2010.

Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswarea P, Itsara A, Vives L, Walsh T, McCarthy Se, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gecz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE: A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet 42(3): 203-209, 2010.

Gaynor JW, Gerdes M, Nord AS, Bernbaum J, Zackai E, Wernovsky G, Clancy RR, Heagerty PJ, Solot CB, McDonald-McGinn D, Jarvik GP : Is cardiac diagnosis a predictor of neurodevelopmental outcome after cardiac surgery in infancy? J Thorac Cardiovasc Surg 140(6): 1230-1237, 2010.

Crowley MA, Conlin LK, Zackai EH, Deardorff MA, Thiel BD, Spinner NB : Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum. Am J Med Genet 152A(5): 1326-1327, 2010.

Burnham N, Ittenbach RF, Stallings VA, Gerdes M, Zackai E, Bernbaum J, Clancy RR, Gaynor JW : Genetic factors are important determinants of impaired growth after infant cardiac surgery. J Thorac Cardiovasc Surg 140(1): 144-149, 2010.

Barry GP, Ny BM, Zackai EH, Grunwald L, Forbes BJ: A case report of a patient with Pfeiffer syndrome, an FGFR2 mutation (Trp290Cys) and unique ocular anterior segment findings. Ophthalmic Genet 31(4): 193-195, 2010.

Ahmad Z, Zackai E, Medne L, Garg A : Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24. Am J Med Genet 152A(11): 2703-2710, 2010.

Conlin LK, Thiel BD, Bonnemann CG, Medne L, Ernst L, Zackai E, Deardorff MA, Krantz ID, Hakonarson H, Spinner NB: Mechanisms of mosaicism, chimerism, and uniparental disomy identified by SNP array analysis. Hum Mol Genet 19(7): 1263-1275, Apr 1 2010.

2009

Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DA, Bolivar J, Bauer M, Zackai EH, McDonald-McGinn D, Nowaczyk MM, Murray M, Shaikh TH, Martin V, Tyreman M, Simonic I, Willatt L, Paterson J, Mehta S, Rajan D, Fitzgerald T, Gribble S, Prigmore E, Patel A, Shaffer LG, Carter NP, Cheung SW, Langston C, Shaw-Smith C : Genomic and genetic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet 845: 780-791, 2009.

Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'Arcy M, Frackelton EC, Geiger EA, Haldeman-Englert C, Imielinski M, Kim CE, Medne L, Annaiah K, Bradfield JP, Dabaghyan E, Eckert A, Onyiah CC, Ostapenko S, Otieno FG, Santa E, Shaner JL, Skraban R, Smith RM, Elia J, Goldmuntz E, Spinner NB, Zackai EH, Chiavacci RM, Grundmeier R, Rappaport EF, Grant SF, White PS, Hakonarson H : High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications. Genome Res 19(9): 1682-1690, 2009.

Purandare SM, Ernst L, Medne L, Huff D, Zackai EH : Developmental anomalies with features of disorganization (Ds) and amniotic band sequence (ABS): A report of four cases. Am J Med Genet 149B(8): 1740-1748, 2009.

Purandare SM, Ernst L, Medne L, Huff D, Zackai EH : Human homologues of the mouse mutant disorganization: A report of four cases. Am J Med Genet Page: In Press, 2009.

Messiaen L, Yao S, Brems H, Callens T, Sathienkijkanchai A, Denayer E, Spencer E, Arn P, Babovic-Vuksanovic D, Bay C, Bobele G, Cohen BH, Escobar L, Eunpu D, Grebe T, Greenstein R, Hachen R, Irons M, Kronn D, Lemire E, Leppig K, Lim C, McDonald M, Narayanan V, Peam A, Pedersen R, Powell B, Shapiro LR, Skidmore D, Tegay D, Thiese H, Zackai EH, Vijzelaar R, Taniguchi K, Ayada T, Okamoto F, Yoshimura A, Parret A, Korf B, Legius E : Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA 302(19): 2111-2118, 2009.

McCarthy S, Makrarov V, Kirov G, Addington A, McClellan J, Perkins D, Kusenda M, Krastoshevsky O, Krause V, Kumar R, Grozeva D, Malhotra D, Yoon S, Walsh T, Zackai EH, Kaplan P, Ganesh J, Krantz ID, Spinner NB, Roccanova P, Bhandari A, Pavon K, Lakshmi B, Leotta A, Kendall J, Leey Y-h, Vacic V, Gary S, Iakoucheva L, Lehtimaki T, Puura K, Haldeman-Englert C, Pearle J, Goodell M, Toolan J, DeRosse P, Steele J, Kassem L, Wolff J, Chitkara N, McMahon F, Malhotra Ak, Potash J, Schulze T, Leibenluft E, Sutcliffe J, Skuse D, Gill M, Gallagher L, Wellcome Trust Case Control Consortium, Craddock N, Owen MJ, O'Donovan MC, Shaikh TH, Susser E, DeLisi L, Sullivan PF, Deutsch C, Rapoport J, Levy D, King M-C, Sebat J: Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet 41(11): 1223-1227, 2009.

Jolin EM, Weller RA, Jessani NR, Zackai EH, McDonald-McGinn DM, Weller EB : Affective disorders and other psychiatric diagnoses in children and adolescents with 22q11.2 deletion syndrome. J Affect Disord Page: [epub ahead of print] 2009.

Horike S, Ferreira JC, Meguro-Horike M, Choufani S, Smith AC, Shuman C, Meschino W, Chitayat D, Zackai E, Scherer SW, Weksberg : Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome. Am J Med Genet 149A(11): 2415-2423, 2009.

Haldeman-Englert CR, Naeem T, Geiger EA, Warnock A, Feret H, Ciano M, Davidson SL, Deardorff MA, Zackai EH, Shaikh TH (2009) A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome.: A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome. Am J Med Genet 149A(8):1842-5. Am J Med Genet 149(8): 1842-1845, 2009.

Haldeman-Englert CR, Gai X, Perin JC, Ciano M, Halbach SS, Geiger EA, McDonald-McGinn DM, Hakonarson H, Zackai EH, Shaikh TH : A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay. Eur J Med Genet 524: 265-8, 2009.

Goldmuntz E, Driscoll DA, Emanuel BS, McDonald-McGinn D, Mei M, Zackai E, Mitchell LE: Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome. Birth Defects Res A Clin Mol Teratol 85(2): 125-9, 2009.

Gaynor JW, Nord AS, Wernovsky G, Bernbaum J, Solot CB, Burnham N, Zackai E, Heagerty PJ, Clancy RR, Nicolson SC, Jarvik GP, Gerdes M : Apolipoprotein E genotype modifies the risk of behavior problems after infant cardiac surgery. Peds 124(1): 241-250, 2009.

Fuller S, Nord AS, Gerdes M, Wernovsky G, Jarvik GP, Bernbaum J, Zackai E, Gaynor JW : Predictors of impaired neurodevelopmental outcomes at one year of age after infant cardiac surgery. Eur J Cardiothorac Surg 36(1): 40-48, 2009.

Foo R, Guo Y, McDonald-McGinn DM, Zackai EH, Whitaker LA, Bartlett SP : The natural history of patients treated for TWIST 1-confirmed Saethre-Chotzen syndrome. Plast Reconstr Surg 124(6): 2085-2095, 2009.

Digilio MC, McDonald-McGinn DM, Heike C, Catania C, Dallapiccola B, Marino B, Zackai EH : Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2. Am J Med Genet 149A(12): 2860-2864, 2009.

Digilio MC, McDonald-McGinn DM, Catania C, Dallapiccola B, Marino B, Zackai EH: Microdeletion 22q11.2 in two patients with Oculo-Auriculo-Vertebral spectrum (Goldenhar syndrome). Clinical Genetics 149A(12): 2860-4, 2009.

Carter MT, St Pierre SA, Zackai EH, Emanuel BS, Boycott KM : Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22q syndrome): Clinical features of 63 individuals. Am J Med Genet 149A((8)): 1712-1721, 2009.

Ballweg JA, Ittenbach RF, Bernbaum J, Gerdes M, Dominguez TE, Zackai EH, Clancy RR, Gaynor JW (2009) : Hyperglycaemia after Stage I palliation does not adversely affect neurodevelopmental outcome at 1 year of age in patients with single-ventricle physiology. Eur J Cardiothorac Surg 36(4): 688-693, Oct 2009.

Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Domene S, Velez JI, Zhou N, Hadley D, Balog JZ, Long R, Fryer A, Smith W, Omar S, McLean SD, Clarkson K, Lichty A, Clegg NJ, Delgado MR, Levey E, Stashinko E, Potocki L, Van Allen MI, Clayton-Smith J, Donnai D, Bianchi DW, Juliusson PB, Njolstad PR, Brunner HG, Carey JC, Hehr U, Musebeck J, Wieacker PF, Polstra A, Hennekam RC, van den Boogaard MJ, van Haeringen A, Paulussen A, Herbergs J, Schrander-Stumpel CT, Janecke AR, Chitayat D, Hahn J, McDonald-McGinn DM, Zackai EH, Dobyns WB, Muenke M: Clinical spectrum of SIX3-Associated mutations in holoprosencephaly: correlation between genotype, phenotype, and function. J Med Genet 46(6): 389-398, Jun 2009.

Jyonouchi S, McDonald-McGinn DM, Bale S, Zackai EH, Sullivan KE : CHARGE syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features. Pediatrics 123(4): e871-877, May 2009.

John AS, McDonald-McGinn DM, Zackai EH, Goldmuntz E: Aortic root dilation in patients with 22q11.2 deletion syndrome. Am J Med Genet (5), 939-942, May 2009.

Coppinger J, McDonald-McGinn D, Zackai E, Shane K, Atkin JF, Asamoah A, Leland R, Weaver DD, Lansky-Shafer S, Schmidt K, Feldman H, Cohen W, Phalin J, Powell B, Ballif BC, Theisen A, Geiger E, Haldeman-Englert C, Shaikh T, Saitta S, Bejjani BA, Shaffer LG : Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region. Hum Mol Genet Page: [epub ahead of print] Feb 3 2009.

Bearden CE, van Erp TG, Dutton RA, Lee AD, Simon TJ, Cannon TD, Emanuel BS, McDonald-McGinn D, Zackai EH, Thompson PM: Alterations in midline cortical thickness and gyrification patterns mapped in children with 22q11.2 deletions. Cereb Cortex 19(1): 115-26, Jan 2009.

2008

Spinner NB, Saitta SC, Delaney DP, Colliton R, Zderic SA, Ruchelli E, Zackai E, Kolon TF : Intracytoplasmic sperm injection (ICSI) with transmission of a ring (Y) chromosome and ovotestciular disorder of sex development in offspring. Am J Med Genet 146A(14): 1828-31, 2008.

Selber J, Reid RR, Chikie-Obi CJ, Sutton LN, Zackai EH, McDonald-McGinn D, Sonnad SS, Whitaker LA, Bartlett SP : The changing epidemiologic spectrum of single-suture synostosis. Plast Reconstr Surg 122: 527-533, 2008.

Otto EA, Liu Y, Davis EE, Hutter CM, Bammler TK, Farin FM, Dorschner M, Topcu M, Zackai EH, Rosenthal P, Owens KN, Katsanis N, Vincent JB, Hildebrandt F, Rubel EW, Raible DW, Knoers NVAM, Chance PF, Roepman R, Moens CB, Glass IA, Doherty D : CC2D2A is mutated in Joubert syndrome and interacts with the cilipopathy-associated basal body protein CEP290. Am J Hum Genet 83: 559-571, 2008.

McDonald-McGinn DM and Zackai EH : Genetic counseling for the 22q11.2 deletion. Dev Disabil Res Rev 14(1): 69-75, 2008.

Lin AE, Basson CT, Goldmuntz E, Magoulas PL, McDermott DA, McDonald-McGinn DM, McPherson E, Morris CA, Noonan J, Nowak C, Pierpont ME, Pyeritz RE, Rope AF, Zackai E, Pober BR: Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management. Genet Med 10(7): 469-94, 2008.

Kapadia CR, Kim YE, McDonald-McGinn DM, Zackai EH, Levitt Katz LE: Parathyroid hormone reserve in 22q11.2 deletion syndrome. Genet Med 10(3): 224-228, 2008.

Dobyns W, Mirzaa G, Roseberry J, Clark G, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand D, Hisama F, Walsh C, Leventer R, Martin CL, Gajecka M, Shaffer L : Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1 p23.1, 4q21.21-q22.1, 6q26-q27 and 21q2. Am J Med Genet 146A(13): 1637-54, 2008.

Chitayat D, Keating S, Zand DJ, Costa T, Zackai EH, Silverman E, Tiller G, Unger S, Miller S, Kingdom J, Toi A, Curry CJ : Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases. Am J Med Genet 146A(23): 3038-3053, 2008.

Ballif BC, Theisen A, McDonald-McGinn DM, Zackai EH, Hersh JH, Bejjani BA, Shaffer LG : Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2. Clin Genet 74(5): 469-475, 2008.

Ballif BC, Theisen A, Coppinger J, Gowans GC, Hersh JH, Madan-Khetarpal S, Schmidt KR, Tervo R, Escobar LF, Friedrich CA, McDonald M, Campbell L, Ming JE, Zackai EH, Bejjani BA, Shaffer LG: Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet 1(1): 8, 2008.

Nino, Michelle. Matos-Miranda, Claudia. Maeda, Momoe. Chen, Li. Allanson, Judith. Armour, Christine. Greene, Carol. Kamaluddeen, Majeeda. Rita, Debra. Medne, Livija. Zackai, Elaine. Mansour, Sahar. Superti-Furga, Andrea. Lewanda, Amy. Bober, Michael. Rosenbaum, Kenneth. Braverman, Nancy.: Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata. American Journal of Medical Genetics. Part A 146(8): 997-1008, Apr 15 2008.

Tabbutt, Sarah. Nord, Alex S. Jarvik, Gail P. Bernbaum, Judy. Wernovsky, Gil. Gerdes, Marsha. Zackai, Elaine. Clancy, Robert R. Nicolson, Susan C. Spray, Thomas L. Gaynor, J William.: Neurodevelopmental outcomes after staged palliation for hypoplastic left heart syndrome. Pediatrics 121(3): 476-83, Mar 2008.

Honnebier, M Barbera. Cabiling, David S. Hetlinger, Maria. McDonald-McGinn, Donna M. Zackai, Elaine H. Bartlett, Scott P.: The natural history of patients treated for FGFR3-associated (Muenke-type) craniosynostosis. Plastic & Reconstructive Surgery 121(3): 919-31, Mar 2008.

Battaglia, Agatino. Hoyme, H Eugene. Dallapiccola, Bruno. Zackai, Elaine. Hudgins, Louanne. McDonald-McGinn, Donna. Bahi-Buisson, Nadia. Romano, Corrado. Williams, Charles A. Braley, Lisa L. Zuberi, Sameer M. Carey, John C.: Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics 121(2): 404-10, Feb 2008.

Zeltser, Ilana. Jarvik, Gail P. Bernbaum, Judy. Wernovsky, Gil. Nord, Alex S. Gerdes, Marsha. Zackai, Elaine. Clancy, Robert. Nicolson, Susan C. Spray, Thomas L. Gaynor, J William.: Genetic factors are important determinants of neurodevelopmental outcome after repair of tetralogy of Fallot. Journal of Thoracic & Cardiovascular Surgery 135(1): 91-7, Jan 2008.

2007

Wieland, I. Weidner, C. Ciccone, R. Lapi, E. McDonald-McGinn, D. Kress, W. Jakubiczka, S. Collmann, H. Zuffardi, O. Zackai, E. Wieacker, P.: Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. Clinical Genetics 72(6): 506-16, Dec 2007.

Wieland I, Weidner C, Ciccone R, Lapi E, McDonald-McGinn D, Kress W, Jakubiczka S, Collmann H, Zuffardi O, Zackai E, Wieacker P : Contiguous gene deletions involving EFNB1, OPHN1, PJA1, and EDA in patients with craniofrontonasal syndrome. Clin Genet 72(6): 506-516, 2007.

Simon TJ, Takarae Y, Deboer T, McDonald-McGinn DM, Zackai EH, Ross JL : Overlapping numerical cognition impairments in children with chromosome 22q11.2 deletion or Turner syndromes. Neuropsychologia Page: [Epub ahead of print] 2007.

Simon TJ, Bearden CE, McDonald-McGinn D, Zackai E : Visuospatial and numerical cognitive deficits in children with chromosome 22q11.2 deletion syndrome. Cortex Page: in press, 2007.

Kaplan FS, Xu M, Glasser DL, Collins F, Connor M, Kitterman J, Sillence D, Zackai E, Ravitsky V, Zasloff M, Ganguly A, Shore EM : Early diagnosis of fibrodysplasia ossificans progressiva. Pediatrics Page: In Press, 2007.

Doherty, Emily S. Lacbawan, Felicitas. Hadley, Donald W. Brewer, Carmen. Zalewski, Christopher. Kim, H Jeff. Solomon, Beth. Rosenbaum, Kenneth. Domingo, Demetrio L. Hart, Thomas C. Brooks, Brian P. Immken, Ladonna. Lowry, R Brian. Kimonis, Virginia. Shanske, Alan L. Jehee, Fernanda Sarquis. Bueno, Maria Rita Passos. Knightly, Carol. McDonald-McGinn, Donna. Zackai, Elaine H. Muenke, Maximilian.: Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. American Journal of Medical Genetics. Part A 143(24): 3204-15, Dec 15 2007.

Conway, Robert L. Pressman, Barry D. Dobyns, William B. Danielpour, Moise. Lee, John. Sanchez-Lara, Pedro A. Butler, Merlin G. Zackai, Elaine. Campbell, Lindsey. Saitta, Sulagna C. Clericuzio, Carol L. Milunsky, Jeff M. Hoyme, H Eugene. Shieh, Joseph. Moeschler, John B. Crandall, Barbara. Lauzon, Julie L. Viskochil, David H. Harding, Brian. Graham, John M Jr.: Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients. American Journal of Medical Genetics. Part A 143(24): 2981-3008, Dec 15 2007.

Binenbaum G, McDonald-McGinn DM, Walker BM, Coleman K, Mach AM, Adam M, Manning M, Alcorn DM, Zabel C, Anderson DR, Zackai EH, Forbes BJ: Sclerocornea associated with the chromosome 22q11. deletion syndrome. Am J Med Genet 146A(7): 904-909, 2007.

Ballweg, Jean A. Wernovsky, Gil. Ittenbach, Richard F. Bernbaum, Judy. Gerdes, Marsha. Gallagher, Paul R. Dominguez, Troy E. Zackai, Elaine. Clancy, Robert R. Nicolson, Susan C. Spray, Thomas L. Gaynor, J William.: Hyperglycemia after infant cardiac surgery does not adversely impact neurodevelopmental outcome. Annals of Thoracic Surgery 84(6): 2052-8, Dec 2007.

Simpson, M A. Hsu, R. Keir, L S. Hao, J. Sivapalan, G. Ernst, L M. Zackai, E H. Al-Gazali, L I. Hulskamp, G. Kingston, H M. Prescott, T E. Ion, A. Patton, M A. Murday, V. George, A. Crosby, A H.: Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. American Journal of Human Genetics 81(5): 906-12, Nov 2007.

Sundaram, Usha T. McDonald-McGinn, Donna M. Huff, Dale. Emanuel, Beverly S. Zackai, Elaine H. Driscoll, Deborah A. Bodurtha, Joann.: Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome. American Journal of Medical Genetics. Part A 143(17): 2016-8, Sep 1 2007.

Ballif, Blake C. Hornor, Sara A. Jenkins, Elizabeth. Madan-Khetarpal, Suneeta. Surti, Urvashi. Jackson, Kelly E. Asamoah, Alexander. Brock, Pamela L. Gowans, Gordon C. Conway, Robert L. Graham, John M Jr. Medne, Livija. Zackai, Elaine H. Shaikh, Tamim H. Geoghegan, Joel. Selzer, Rebecca R. Eis, Peggy S. Bejjani, Bassem A. Shaffer, Lisa G.: Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nature Genetics 39(9): 1071-3, Sep 2007.

Jackson, Eric M. Shaikh, Tamim H. Zhang, Fan. Wainwright, Luanne M. Storm, Phillip B. Hakonarson, Hakon. Zackai, Elaine H. Biegel, Jaclyn A.: Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome. American Journal of Medical Genetics. Part A 143(15): 1767-70, Aug 1 2007.

Boland, Elena. Clayton-Smith, Jill. Woo, Victoria G. McKee, Shane. Manson, Forbes D C. Medne, Livija. Zackai, Elaine. Swanson, Eric A. Fitzpatrick, David. Millen, Kathleen J. Sherr, Elliott H. Dobyns, William B. Black, Graeme C M.: Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. American Journal of Human Genetics 81(2): 292-303, Aug 2007.

Hoffman, Jodi D. Irons, Mira. Schwartz, Charles E. Medne, Livija. Zackai, Elaine H.: A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes. American Journal of Medical Genetics. Part A 143(12): 1282-6, Jun 15 2007.

Gaynor, J William. Wernovsky, Gil. Jarvik, Gail P. Bernbaum, Judy. Gerdes, Marsha. Zackai, Elaine. Nord, Alex S. Clancy, Robert R. Nicolson, Susan C. Spray, Thomas L.: Patient characteristics are important determinants of neurodevelopmental outcome at one year of age after neonatal and infant cardiac surgery. Journal of Thoracic & Cardiovascular Surgery 133(5): 1344-53, 1353.e1-3, May 2007.

Cabiling, David S. Yan, Albert C. McDonald-McGinn, Donna M. Zackai, Elaine H. Kirschner, Richard E.: Cleft lip and palate repair in Hay-Wells/ankyloblepharon-ectodermal dysplasia-clefting syndrome. [Review] [51 refs] Cleft Palate-Craniofacial Journal 44(3): 335-9, May 2007.

Potocki, Lorraine. Bi, Weimin. Treadwell-Deering, Diane. Carvalho, Claudia M B. Eifert, Anna. Friedman, Ellen M. Glaze, Daniel. Krull, Kevin. Lee, Jennifer A. Lewis, Richard Alan. Mendoza-Londono, Roberto. Robbins-Furman, Patricia. Shaw, Chad. Shi, Xin. Weissenberger, George. Withers, Marjorie. Yatsenko, Svetlana A. Zackai, Elaine H. Stankiewicz, Pawel. Lupski, James R.: Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. American Journal of Human Genetics 80(4): 633-49, Apr 2007.

Forbes, Brian J. Binenbaum, Gil. Edmond, Jane C. DeLarato, Nicole. McDonald-McGinn, Donna M. Zackai, Elaine H.: Ocular findings in the chromosome 22q11.2 deletion syndrome. Journal of Aapos: American Association for Pediatric Ophthalmology & Strabismus 11(2): 179-82, Apr 2007.

Machado, Alexei M C. Simon, Tony J. Nguyen, Vy. McDonald-McGinn, Donna M. Zackai, Elaine H. Gee, James C.: Corpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndrome. Brain Research 1131(1): 197-210, Feb 2 2007.

Botzenhart, Elke M. Bartalini, Gabriella. Blair, Edward. Brady, Angela F. Elmslie, Frances. Chong, Karen L. Christy, Katie. Torres-Martinez, Wilfredo. Danesino, Cesare. Deardorff, Matthew A. Fryns, Jean-Pierre. Marlin, Sandrine. Garcia-Minaur, Sixto. Hellenbroich, Yorck. Hay, Beverly N. Penttinen, Maila. Shashi, Vandana. Terhal, Paulien. Van Maldergem, Lionel. Whiteford, Margo L. Zackai, Elaine. Kohlhase, Jurgen.: Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. Human Mutation 28(2): 204-5, Feb 2007.

2006

Russell HF, Wallis D, Mazzocco MM, Moshang T, Zackai E, Zinn AR, Ross JL, Muenke M: Increased prevalence of ADHD in Turner syndrome with no evidence of imprinting effects. J Ped Psychol 31(9): 945-955, 2006.

Jadico, Suzanne K. Young, David A. Huebner, Alexandra. Edmond, Jane C. Pollock, Avrum N. McDonald-McGinn, Donna M. Li, Yi-Ju. Zackai, Elaine H. Young, Terri L.: Ocular abnormalities in Apert syndrome: genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations. Journal of Aapos: American Association for Pediatric Ophthalmology & Strabismus 10(6): 521-7, Dec 2006.

Robin, Nathaniel H. Taylor, Clare J. McDonald-McGinn, Donna M. Zackai, Elaine H. Bingham, Peter. Collins, Kevin J. Earl, Dawn. Gill, Deepak. Granata, Tiziana. Guerrini, Renzo. Katz, Naomi. Kimonis, Virginia. Lin, Jean-Pierre. Lynch, David R. Mohammed, Shehla N. Massey, Roger F. McDonald, Marie. Rogers, R Curtis. Splitt, Miranda. Stevens, Cathy A. Tischkowitz, Marc D. Stoodley, Neil. Leventer, Richard J. Pilz, Daniela T. Dobyns, William B.: Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. American Journal of Medical Genetics. Part A 140(22): 2416-25, Nov 15 2006.

Russell, Heather F. Wallis, Deeann. Mazzocco, Michele M M. Moshang, Thomas. Zackai, Elaine. Zinn, Andrew R. Ross, Judith L. Muenke, Maximilian.: Increased prevalence of ADHD in Turner syndrome with no evidence of imprinting effects. J Pediatr Psychol. 31(9): 945-55, Oct 2006.

Jadico, Suzanne K. Huebner, Alexandra. McDonald-McGinn, Donna M. Zackai, Elaine H. Young, Terri L.: Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations. Journal of Aapos: American Association for Pediatric Ophthalmology & Strabismus 10(5): 435-44, Oct 2006.

Shuman, Cheryl. Smith, Adam C. Steele, Leslie. Ray, Peter N. Clericuzio, Carol. Zackai, Elaine. Parisi, Melissa A. Meadows, Anna T. Kelly, Thaddeus. Tichauer, David. Squire, Jeremy A. Sadowski, Paul. Weksberg, Rosanna.: Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies. Am J Med Genet. Part A 140(14): 1497-503, Jul 15 2006.

Ruotolo, Rachel A. Veitia, Nestor A. Corbin, Aaron. McDonough, Joseph. Solot, Cynthia B. McDonald-McGinn, Donna. Zackai, Elaine H. Emanuel, Beverly S. Cnaan, Avital. LaRossa, Don. Arens, Raanan. Kirschner, Richard E.: Velopharyngeal anatomy in 22q11.2 deletion syndrome: a three-dimensional cephalometric analysis. Cleft Palate-Craniofacial Journal 43(4): 446-456, Jul 2006.

Driscoll, Deborah A. Boland, Torrey. Emanuel, Beverly S. Kirschner, Richard E. LaRossa, Don. Manson, Jeanne. McDonald-McGinn, Donna. Randall, Peter. Solot, Cynthia. Zackai, Elaine. Mitchell, Laura E.: Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome. Cleft Palate-Craniofacial Journal 43(4): 435-41, Jul 2006.

Ming, Jeffrey E. Geiger, Elizabeth. James, Alison C. Ciprero, Karen L. Nimmakayalu, Manjunath. Zhang, Yi. Huang, Andrew. Vaddi, Madhavi. Rappaport, Eric. Zackai, Elaine H. Shaikh, Tamim H.: Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays. Human Mutation 27(5): 467-73, May 2006.

Bish, Joel P. Pendyal, Akshay. Ding, Lijun. Ferrante, Heather. Nguyen, Vy. McDonald-McGinn, Donna. Zackai, Elaine. Simon, Tony J.: Specific cerebellar reductions in children with chromosome 22q11.2 deletion syndrome. Neuroscience Letters 399(3): 245-8, May 22 2006.

Kaltman, Jonathan R. Jarvik, Gail P. Bernbaum, Judy. Wernovsky, Gil. Gerdes, Marsha. Zackai, Elaine. Clancy, Robert R. Nicolson, Susan C. Spray, Thomas L. Gaynor, J William.: Neurodevelopmental outcome after early repair of a ventricular septal defect with or without aortic arch obstruction. Journal of Thoracic & Cardiovascular Surgery 131(4): 792-8, Apr 2006.

Huang, Jia. Hoffman, Jodi D. Zhang, Yi. Maisenbacher, Melissa K. Zackai, Elaine H. Weber, Barbara L. Ming, Jeffrey E.: Identification of a submicroscopic deletion of SHH associated with the holoprosencephaly spectrum by array-based CGH. Clinical Genetics 69(4): 367-9, Apr 2006.

Gripp, Karen W. Lin, Angela E. Stabley, Deborah L. Nicholson, Linda. Scott, Charles I Jr. Doyle, Daniel. Aoki, Yoko. Matsubara, Yoichi. Zackai, Elaine H. Lapunzina, Pablo. Gonzalez-Meneses, Antonio. Holbrook, Jennifer. Agresta, Cynthia A. Gonzalez, Iris L. Sol-Church, Katia.: HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. American Journal of Medical Genetics. Part A 140(1): 1-7, Jan 1 2006.

Gaynor, J William. Jarvik, Gail P. Bernbaum, Judy. Gerdes, Marsha. Wernovsky, Gil. Burnham, Nancy B. D'Agostino, Jo Ann. Zackai, Elaine. McDonald-McGinn, Donna M. Nicolson, Susan C. Spray, Thomas L. Clancy, Robert R.: The relationship of postoperative electrographic seizures to neurodevelopmental outcome at 1 year of age after neonatal and infant cardiac surgery.[see comment]. Journal of Thoracic & Cardiovascular Surgery 131(1): 181-9, Jan 2006.

2005

Simon, Tony J. Bish, Joel P. Bearden, Carrie E. Ding, Lijun. Ferrante, Samantha. Nguyen, Vy. Gee, James C. McDonald-McGinn, Donna M. Zackai, Elaine H. Emanuel, Beverly S.: A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children. [Review] [122 refs] Development & Psychopathology 17(3): 753-84, 2005.

Schultz, Amy H. Jarvik, Gail P. Wernovsky, Gil. Bernbaum, Judy. Clancy, Robert R. D'Agostino, Jo Ann. Gerdes, Marsha. McDonald-McGinn, Donna. Nicolson, Susan C. Spray, Thomas L. Zackai, Elaine. Gaynor, J William.: Effect of congenital heart disease on neurodevelopmental outcomes within multiple-gestation births. Journal of Thoracic & Cardiovascular Surgery 130(6): 1511-6, Dec 2005.

Johnson, Tiffanie R. Goldmuntz, Elizabeth. McDonald-McGinn, Donna M. Zackai, Elaine H. Fogel, Mark A.: Cardiac magnetic resonance imaging for accurate diagnosis of aortic arch anomalies in patients with 22q11.2 deletion. American Journal of Cardiology 96(12): 1726-30, Dec 15 2005.

Carre, Amanda. Frantz, Christopher N. Weksberg, Rosanna. Nicholson, Linda. Ciarlo, Lynn. Zackai, Elaine H. Gripp, Karen W.: Wilms tumor in an 11-year-old with hemihyperplasia. American Journal of Medical Genetics. Part A 139(2): 165-6, Dec 1 2005.

DeBerardinis, Ralph J. Medne, Livija. Spinner, Nancy B. Zackai, Elaine H.: DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother. American Journal of Medical Genetics. Part A 138(2): 155-9, Oct 1 2005.

Morrissette, Jennifer J D. Medne, Livija. Bentley, Tyrone. Owens, Nancy L. Geiger, Elizabeth. Pipan, Mary. Zackai, Elaine H. Shaikh, Tamim. Spinner, Nancy B.: A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage. American Journal of Medical Genetics. Part A 137(2): 208-12, Aug 30 2005.

McDonald-McGinn, Donna M. Gripp, Karen W. Kirschner, Richard E. Maisenbacher, Melissa K. Hustead, Virginia. Schauer, Galen M. Keppler-Noreuil, Kim M. Ciprero, Karen L. Pasquariello, Patrick Jr. LaRossa, Don. Bartlett, Scott P. Whitaker, Linton A. Zackai, Elaine H.: Craniosynostosis: another feature of the 22q11.2 deletion syndrome. American Journal of Medical Genetics. Part A 136(4): 358-62, Aug 1 2005.

Fine, S.E., Weissman, A., Gerdes, M., Pinto-Martin, J., Zackai, E.H., McDonald-McGinn, D.M., Emanuel, B.S.: Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome. Journal of Autism & Developmental Disorders 35(4): 461-70, Aug 2005.

Hoffman, Jodi D. Ciprero, Karen L. Sullivan, Kathleen E. Kaplan, Paige B. McDonald-McGinn, Donna M. Zackai, Elaine H. Ming, Jeffrey E.: Immune abnormalities are a frequent manifestation of Kabuki syndrome. [Review] [18 refs] American Journal of Medical Genetics. Part A 135(3): 278-81, Jun 15 2005.

Staple, Lauren. Andrews, Timothy. McDonald-McGinn, Donna. Zackai, Elaine. Sullivan, Kathleen E.: Allergies in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) and patients with chronic granulomatous disease. Pediatric Allergy & Immunology 16(3): 226-30, May 2005.

Simon, Tony J. Bearden, Carrie E. Mc-Ginn, Donna McDonald. Zackai, Elaine.: Visuospatial and numerical cognitive deficits in children with chromosome 22q11.2 deletion syndrome. Cortex 41(2): 145-55, Apr 2005.

McDonald-McGinn, Donna M. Minugh-Purvis, Nancy. Kirschner, Richard E. Jawad, Abbas. Tonnesen, Melissa K. Catanzaro, Jason R. Goldmuntz, Elizabeth. Driscoll, Deborah. Larossa, Don. Emanuel, Beverly S. Zackai, Elaine H.: The 22q11.2 deletion in African-American patients: an underdiagnosed population?. American Journal of Medical Genetics. Part A 134(3): 242-6, Apr 30 2005.

Maisenbacher, Melissa K. Han, Ji-Soo. O'brien, Megan L. Tracy, Michael R. Erol, Bulent. Schaffer, Alyssa A. Dormans, John P. Zackai, Elaine H. Kusumi, Kenro.: Molecular analysis of congenital scoliosis: a candidate gene approach. Human Genetics 116(5): 416-9, Apr 2005.

Johnston JJ, Olivos-Glander I, Killoran C, Elson, E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RCM, Holmes LV,. Home EH, Leppig KA, Lin AE, Macleod P, Manchester DK,. Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Morscher JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH Zadeh TM, Brueton L, Black G, Biesecker CM, Leslie G.: Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet 76(4): 609-22, Apr 2005.

Simon TJ, Ding L, Bish JP, McDonald-McGinn DM, Zackai EH, Gee J: Volumetric, connective, and morphologic changes in the brains of children with chromosome 22q11.2 deletion syndrome: an integrative study. Neuroimage 25(1): 169-180, Mar 2005.

Bearded CE, Jawed AF, Lynch DR, Monterosso JR, Sokol, McDonald-McGinn DM, Sagitta SC, Harris SE, Moss E, Wang PP, Zackai E, Emanuel BS, Simon TJ: Effects of COMT genotype on behavioral symptomatology in the 22q11.2 Deletion Syndrome. Child Neuropsych 11(1): 109-17, Feb 2005.

Ming JE, Russell KL, McDonald-McGinn DM, Zackai EH: Autoimmune disorders in Kabuki syndrome. Am J Med Genet Part A 132(3): 260-262, Jan 30 2005.

Hoffman, J D. Zhang, Y. Greshock, J. Ciprero, K L. Emanuel, B S. Zackai, E H. Weber, B L. Ming, J E.: Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome. Journal of Medical Genetics 42(1): 49-53, Jan 2005.

Cipher KL, Clayton-Smith J, Donnai D, Zimmerman RA Zackai EH, Ming JE: Symptomatic Chiari I malformation in Kabuki syndrome. Am J Med Genet Part A 132(3): 273-5, Jan 30 2005.

Bish, Joel P. Ferrante, Samantha M. McDonald-McGinn, Donna. Zackai, Elaine. Simon, Tony J.: Maladaptive conflict monitoring as evidence for executive dysfunction in children with chromosome 22q11.2 deletion syndrome. Develop Sci 8(1): 36-43, Jan 2005.

Armstrong L, Abd El Moneim A, Aleck K Aughton DJ Baumann C, Braddock SR Gillessen-Kaesbach G, Graham JR Jr, Grebe TA, Gripp KW,. Hall BD, Hennekam R, Hunter A, Keppler-Noreuil K, Lacombe D, Lin AE, Ming JE, Kokitsu-Nakata NM, Nikkel SM, Philip N, Raas-Rothschild A, Sommer A, Verbose A, Walter C, Wieczorek D, Williams MS, Zackai E, Allanson JE: Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet Part A 132(3): 265-72, Jan 30 2005.

2004

Shim SM, Wyandt HE, McDonald-McGinn DM, Zackai EH, Milunsky A (: Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects. Clin Genet 66: 46-52, 2004.

Saitta SC, Harris SE, McDonald-McGinn DM, Emanuel BS, Tonnesen MK, Zackai EH, Seitz SC, Driscoll DA : Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome. Am J Med Genet 124A(3): 313-317, 2004.

Bearden CE, van Erp TG, Monterosso JR, Simon TJ, Glahn DC, Saleh PA, Hill NM, McDonald-McGinn DM, Zackai E, Emanuel BS, Cannon TD: Regional brain abnormalities in 22q11.2 deletion syndrome: association with cognitive abilities and behavioral symptoms. Neurocase 10(3): 198-206, 2004.

Hockstein, Neil G. McDonald-McGinn, Donna. Zackai, Elaine. Bartlett, Scott. Huff, Dale S. Jacobs, Ian N.: Tracheal anomalies in Pfeiffer syndrome. Archives of Otolaryngology -- Head & Neck Surgery 130(11): 1298-302, Nov 2004.

Erol B, Tracy MR, Tormanns JP, Zackai EH Maisenbacher MK, O'Brien ML, Turnpenny PD, Kusumi K: Congenital scoliosis and vertebral malformations: characterization of segmental defects for genetic analysis. J Pediatr Orthopedic 24(6): 674-82, Nov-Dec 2004.

Deardorff, Matthew A. Maisenbacher, Melissa. Zackai, Elaine H.: Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion.[see comment]. American Journal of Medical Genetics. Part A 130(4): 393-4, Nov 1 2004.

Bearden, Carrie E. Jawad, Abbas F. Lynch, David R. Sokol, Set. Kanes, Steven J. McDonald-McGinn, Donna M. Saitta, Sulagna C. Harris, Stacy E. Moss, Edward. Wang, Paul P. Zackai, Elaine. Emanuel, Beverly S. Simon, Tony J.: Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome. American Journal of Psychiatry 161(9): 1700-2, Sep 2004.

Stewart, Douglas R. Huang, Alina. Faravelli, Francesca. Anderlid, Britt-Marie. Medne, Livija. Ciprero, Karen. Kaur, Maninder. Rossi, Elena. Tenconi, Romano. Nordenskjold, Magnus. Gripp, Karen W. Nicholson, Linda. Meschino, Wendy S. Capua, Esther. Quarrell, Oliver W J. Flint, Jonathon. Irons, Mira. Giampietro, Philip F. Schowalter, David B. Zaleski, Christina A. Malacarne, Michela. Zackai, Elaine H. Spinner, Nancy B. Krantz, Ian D.: Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. American Journal of Medical Genetics. Part A 128(4): 340-51, Aug 1 2004.

Ricchetti, Eric T. States, Lisa. Hosalkar, Harish S. Tamai, Junichi. Maisenbacher, Melissa. McDonald-McGinn, Donna M. Zackai, Elaine H. Drummond, Denis S.: Radiographic study of the upper cervical spine in the 22q11.2 deletion syndrome. Journal of Bone & Joint Surgery - American Volume 86(-A8): 1751-60, Aug 2004.

Kao, Amy. Mariani, Juliana. McDonald-McGinn, Donna M. Maisenbacher, Melissa K. Brooks-Kayal, Amy R. Zackai, Elaine H. Lynch, David R.: Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion. American Journal of Medical Genetics. Part A 129(1): 29-34, Aug 15 2004.

Bearden, Carrie E. van Erp, Theo G M. Monterosso, John R. Simon, Tony J. Glahn, David C. Saleh, Peter A. Hill, Nicole M. McDonald-McGinn, Donna M. Zackai, Elaine. Emanuel, Beverly S. Cannon, Tyrone D.: Regional brain abnormalities in 22q11.2 deletion syndrome: association with cognitive abilities and behavioral symptoms. Neurocase 10(3): 198-206, Jun 2004.

Zand, Dina J. Huff, Dale. Everman, David. Russell, Karen. Saitta, Sulagna. McDonald-McGinn, Donna. Zackai, Elaine H.: Autosomal dominant inheritance of infantile myofibromatosis. [Review] [26 refs] American Journal of Medical Genetics. Part A 126(3): 261-6, Apr 30 2004.

Shalev, Stavit A. Clarke, Lorne A. Koehn, David. Langlois, Sylvie. Zackai, Elaine H. Hall, Judith G. McDonald McGinn, Donna M.: Long-term follow-up of three individuals with Kabuki syndrome. American Journal of Medical Genetics. Part A 125(2): 191-200, Mar 1 2004.

Saitta, Sulagna C. Harris, Stacy E. Gaeth, Ann P. Driscoll, Deborah A. McDonald-McGinn, Donna M. Maisenbacher, Melissa K. Yersak, Jill M. Chakraborty, Prabir K. Hacker, April M. Zackai, Elaine H. Ashley, Terry. Emanuel, Beverly S.: Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. Human Molecular Genetics 13(4): 417-28, Feb 15 2004.

Piliero, Lisa M. Sanford, Amy N. McDonald-McGinn, Donna M. Zackai, Elaine H. Sullivan, Kathleen E.: T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome. Blood 103(3): 1020-5, Feb 1 2004.

Kato, Mitsuhiro. Das, Soma. Petras, Kristin. Kitamura, Kunio. Morohashi, Ken-ichirou. Abuelo, Diane N. Barr, Mason. Bonneau, Dominique. Brady, Angela F. Carpenter, Nancy J. Cipero, Karen L. Frisone, Francesco. Fukuda, Takayuki. Guerrini, Renzo. Iida, Eri. Itoh, Masayuki. Lewanda, Amy Feldman. Nanba, Yukiko. Oka, Akira. Proud, Virginia K. Saugier-Veber, Pascale. Schelley, Susan L. Selicorni, Angelo. Shaner, Rachel. Silengo, Margherita. Stewart, Fiona. Sugiyama, Noriyuki. Toyama, Jun. Toutain, Annick. Vargas, Ana Lia. Yanazawa, Masako. Zackai, Elaine H. Dobyns, William B.: Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Human Mutation 23(2): 147-59, Feb 2004.

Venditti, Charles P. Hunt, Piper. Donnenfeld, Alan. Zackai, Elaine. Spinner, Nancy B.: Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies. American Journal of Medical Genetics. Part A 124(3): 274-9, Jan 30 2004.

Stevenson, David A. Anaya, Theresa M. Clayton-Smith, Jill. Hall, Bryan D. Van Allen, Margot I. Zori, Roberto T. Zackai, Elaine H. Frank, Gary. Clericuzio, Carol L.: Unexpected death and critical illness in Prader-Willi syndrome: report of ten individuals. American Journal of Medical Genetics. Part A 124(2): 158-64, Jan 15 2004.

Saitta, Sulagna C. Harris, Stacy E. McDonald-McGinn, Donna M. Emanuel, Beverly S. Tonnesen, Melissa K. Zackai, Elaine H. Seitz, Suzanne C. Driscoll, Deborah A.: Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome. American Journal of Medical Genetics. Part A 124(3): 313-7, Jan 30 2004.

2003

Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang Q, Gu Z, Lu F, Zeesman S, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Dohner H, Dohner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC : Human chromosome 7: DNA sequence and biology. Science 300: 767-772, 2003.

Morrissette, Jennifer J D. Laufer-Cahana, Ayala. Medne, Livija. Russell, Karen L. Venditti, Charles P. Kline, Rochelle. Zackai, Elaine H. Spinner, Nancy B.: Patient with trisomy 9p and a hypoplastic left heart with a tricentric chromosome 9. American Journal of Medical Genetics. Part A 123(3): 279-84, Dec 15 2003.

Ming, Jeffrey E. Russell, Karen L. Bason, Lynn. McDonald-McGinn, Donna M. Zackai, Elaine H.: Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association. American Journal of Medical Genetics. Part A 123(3): 249-52, Dec 15 2003.

Gaynor, J William. Gerdes, Marsha. Zackai, Elaine H. Bernbaum, Judy. Wernovsky, Gil. Clancy, Robert R. Newman, Mark F. Saunders, Ann M. Heagerty, Patrick J. D'Agostino, Jo Ann. McDonald-McGinn, Donna. Nicolson, Susan C. Spray, Thomas L. Jarvik, Gail P.: Apolipoprotein E genotype and neurodevelopmental sequelae of infant cardiac surgery. Journal of Thoracic & Cardiovascular Surgery 126(6): 1736-45, Dec 2003.

Toriello, Helga V. Carey, John C. Addor, Marie-Claude. Allen, William. Burke, Leah. Chun, Nicole. Dobyns, William. Elias, Ellen. Gallagher, Renata. Hordijk, Roel. Hoyme, Gene. Irons, Mira. Jewett, Tamison. LeMerrer, Martine. Lubinsky, Mark. Martin, Rick. McDonald-McGinn, Donna. Neumann, Luitgard. Newman, William. Pauli, Richard. Seaver, Laurie. Tsai, Anna. Wargowsky, David. Williams, Marc. Zackai, Elaine.: Toriello-Carey syndrome: delineation and review. [Review] [19 refs] American Journal of Medical Genetics. Part A 123(1): 84-90, Nov 15 2003.

Perez, Elena E. Bokszczanin, Aleksandra. McDonald-McGinn, Donna. Zackai, Elaine H. Sullivan, Kathleen E.: Safety of live viral vaccines in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Pediatrics 112(4): e325, Oct 2003.

Zweier, C. Temple, I K. Beemer, F. Zackai, E. Lerman-Sagie, T. Weschke, B. Anderson, C E. Rauch, A.: Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome.[comment]. Journal of Medical Genetics 40(8): 601-5, Aug 2003.

Lawrence, Scott. McDonald-McGinn, Donna M. Zackai, Elaine. Sullivan, Kathleen E.: Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome. Journal of Pediatrics 143(2): 277-8, Aug 2003.

Gripp, Karen W. Zackai, Elaine H. Cohen, M Michael Jr.: Clinical and molecular diagnosis should be consistent.[see comment][comment]. American Journal of Medical Genetics. Part A 121(2): 188-9, Aug 30 2003.

DeBerardinis, Ralph J. Conforto, Danielle. Russell, Karen. Kaplan, Jennifer. Kollros, Peter R. Zackai, Elaine H. Emanuel, Beverly S.: Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21. American Journal of Medical Genetics. Part A 121(1): 31-6, Aug 15 2003.

Clericuzio, Carol L. Chen, Emily. McNeil, Dawn Elizabeth. O'Connor, Timothy. Zackai, Elaine H. Medne, Livija. Tomlinson, Gail. DeBaun, Michael.: Serum alpha-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia. Journal of Pediatrics 143(2): 270-2, Aug 2003.

Zackai, Elaine H. McDonald-McGinn, Donna M. Stolle, Catherine. Huff, Dale S.: Craniosynostosis with tracheal sleeve: a patient with Pfeiffer syndrome, tracheal sleeve and additional malformations in whom an FGFR2 mutation was found. Clinical Dysmorphology 12(3): 209, Jul 2003.

Wang, Lisa L. Gannavarapu, Anu. Kozinetz, Claudia A. Levy, Moise L. Lewis, Richard A. Chintagumpala, Murali M. Ruiz-Maldanado, Ramon. Contreras-Ruiz, Jose. Cunniff, Christopher. Erickson, Robert P. Lev, Dorit. Rogers, Maureen. Zackai, Elaine H. Plon, Sharon E.: Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. Journal of the National Cancer Institute 95(9): 669-74, May 7 2003.

Zand, Dina J. Carpentieri, David. Huff, Dale. Medne, Livija. Napierala, Dobrawa. Lee, Brendan. Zackai, Elaine.: Crane-Heise syndrome: a second familial case report with elaboration of phenotype. American Journal of Medical Genetics. Part A 118(3): 223-8, Apr 30 2003.

Kamnasaran, Deepak. O'Brien, Patricia C. Zackai, Elaine H. Muenke, Maximilian. Ferguson-Smith, Malcolm A. Cox, Diane W.: Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome. European Journal of Human Genetics 11(4): 315-24, Apr 2003.

Kirschner, Richard E. Low, David W. Randall, Peter. Bartlett, Scott P. McDonald-McGinn, Donna M. Schultz, Patricia J. Zackai, Elaine H. LaRossa, Don.: Surgical airway management in Pierre Robin sequence: is there a role for tongue-lip adhesion?[see comment]. Cleft Palate-Craniofacial Journal 40(1): 13-8, Jan 2003.

2002

Wu, Hsi-Yang. Rusnack, Susan L. Bellah, Richard D. Plachter, Natalie. McDonald-McGinn, Donna M. Zackai, Elaine H. Canning, Douglas A.: Genitourinary malformations in chromosome 22q11.2 deletion. Journal of Urology 168(6): 2564-5, Dec 2002.

McElhinney, Doff B. Straka, Michele. Goldmuntz, Elizabeth. Zackai, Elaine H.: Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndrome.[see comment]. American Journal of Medical Genetics 113(3): 238-41, Dec 1 2002.

Dyce, Orville. McDonald-McGinn, Donna. Kirschner, Richard E. Zackai, Elaine. Young, Kathleen. Jacobs, Ian N.: Otolaryngologic manifestations of the 22q11.2 deletion syndrome. Archives of Otolaryngology -- Head & Neck Surgery 128(12): 1408-12, Dec 2002.

McElhinney, Doff B. Jacobs, Ian. McDonald-McGinn, Donna M. Zackai, Elaine H. Goldmuntz, Elizabeth.: Chromosomal and cardiovascular anomalies associated with congenital laryngeal web. International Journal of Pediatric Otorhinolaryngology 66(1): 23-27, Oct 21 2002.

Martin, C L. Waggoner, D J. Wong, A. Uhrig, S. Roseberry, J A. Hedrick, J F. Pack, S D. Russell, K. Zackai, E. Dobyns, W B. Ledbetter, D H.: "Molecular rulers" for calibrating phenotypic effects of telomere imbalance. Journal of Medical Genetics 39(10): 734-40, Oct 2002.

Kondo, Shinji. Schutte, Brian C. Richardson, Rebecca J. Bjork, Bryan C. Knight, Alexandra S. Watanabe, Yoriko. Howard, Emma. de Lima, Renata L L Ferreira. Daack-Hirsch, Sandra. Sander, Achim. McDonald-McGinn, Donna M. Zackai, Elaine H. Lammer, Edward J. Aylsworth, Arthur S. Ardinger, Holly H. Lidral, Andrew C. Pober, Barbara R. Moreno, Lina. Arcos-Burgos, Mauricio. Valencia, Consuelo. Houdayer, Claude. Bahuau, Michel. Moretti-Ferreira, Danilo. Richieri-Costa, Antonio. Dixon, Michael J. Murray, Jeffrey C.: Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.[see comment]. Nature Genetics 32(2): 285-9, Oct 2002.

Ion, Andra. Tartaglia, Marco. Song, Xiaoling. Kalidas, Kamini. van der Burgt, Ineke. Shaw, Adam C. Ming, Jeffrey E. Zampino, Giuseppe. Zackai, Elaine H. Dean, John C S. Somer, Mirja. Parenti, Giancarlo. Crosby, Andrew H. Patton, Michael A. Gelb, Bruce D. Jeffery, Steve.: Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome. Human Genetics 111(4-5): 421-7, Oct 2002.

Sullivan, Kathleen E. McDonald-McGinn, Donna. Zackai, Elaine H.: CD4(+) CD25(+) T-cell production in healthy humans and in patients with thymic hypoplasia. Clinical & Diagnostic Laboratory Immunology 9(5): 1129-31, Sep 2002.

Venditti, Charles P. Farmer, Jennifer. Russell, Karen L. Friedrich, Christopher A. Alter, Craig. Canning, Douglas. Whitaker, Linton. Mennuti, Michael T. Driscoll, Deborah A. Zackai, Elaine H.: Omodysplasia: an affected mother and son. American Journal of Medical Genetics 111(2): 169-77, Aug 1 2002.

Lin, Angela E. Grossfeld, Paul D. Hamilton, Robert M. Smoot, Leslie. Gripp, Karen W. Proud, Virginia. Weksberg, Rosanna. Wheeler, Patricia. Picker, Jonathan. Irons, Mira. Zackai, Elaine. Marino, Bradley. Scott, Charles I Jr. Nicholson, Linda.: Further delineation of cardiac abnormalities in Costello syndrome. [Review] [87 refs] American Journal of Medical Genetics 111(2): 115-29, Aug 1 2002.

Slavotinek, A M. Searby, C. Al-Gazali, L. Hennekam, R C M. Schrander-Stumpel, C. Orcana-Losa, M. Pardo-Reoyo, S. Cantani, A. Kumar, D. Capellini, Q. Neri, G. Zackai, E. Biesecker, L G.: Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. Human Genetics 110(6): 561-7, Jun 2002.

Kan, Shih-hsin. Elanko, Navaratnam. Johnson, David. Cornejo-Roldan, Laura. Cook, Jackie. Reich, Elsa W. Tomkins, Susan. Verloes, Alain. Twigg, Stephen R F. Rannan-Eliya, Sahan. McDonald-McGinn, Donna M. Zackai, Elaine H. Wall, Steven A. Muenke, Maximilian. Wilkie, Andrew O M.: Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. American Journal of Human Genetics 70(2): 472-86, Feb 2002.

Gripp, Karen W. Scott, Charles I Jr. Nicholson, Linda. McDonald-McGinn, Donna M. Ozeran, J Daniel. Jones, Marilyn C. Lin, Angela E. Zackai, Elaine H.: Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol. American Journal of Medical Genetics 108(1): 80-7, Feb 15 2002.

2001

McElhinney, D B. McDonald-McGinn, D. Zackai, E H. Goldmuntz, E.: Cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond 6 months of age. Pediatrics 108(6): E104, Dec 2001.

Gong, W. Gottlieb, S. Collins, J. Blescia, A. Dietz, H. Goldmuntz, E. McDonald-McGinn, D M. Zackai, E H. Emanuel, B S. Driscoll, D A. Budarf, M L.: Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects. Journal of Medical Genetics 38(12): E45, Dec 2001.

Emanuel, B S. McDonald-McGinn, D. Saitta, S C. Zackai, E H.: The 22q11.2 deletion syndrome. Advances in Pediatrics 48: 39-73, 2001.

Cassileth, L B. Bartlett, S P. Glat, P M. Gripp, K W. Muenke, M. Zackai, E H. Whitaker, L A.: Clinical characteristics of patients with unicoronal synostosis and mutations of fibroblast growth factor receptor 3: a preliminary report. Plastic & Reconstructive Surgery 108(7): 1849-54, Dec 2001.

Jawad, A F. McDonald-Mcginn, D M. Zackai, E. Sullivan, K E.: Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Journal of Pediatrics 139(5): 715-23, Nov 2001.

Faivre, L. Le Merrer, M. Baumann, C. Polak, M. Chatelain, P. Sulmont, V. Cousin, J. Bost, M. Cordier, M P. Zackai, E. Russell, K. Finidori, G. Pouliquen, J C. Munnich, A. Maroteaux, P. Cormier-Daire, V.: Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance. Journal of Medical Genetics 38(11): 745-9, Nov 2001.

Bearden, C E. Woodin, M F. Wang, P P. Moss, E. McDonald-McGinn, D. Zackai, E. Emannuel, B. Cannon, T D.: The neurocognitive phenotype of the 22q11.2 deletion syndrome: selective deficit in visual-spatial memory. Journal of Clinical & Experimental Neuropsychology: Official Journal of the International Neuropsychological Society 23(4): 447-64, Aug 2001.

Rode, M E. Mennuti, M T. Giardine, R M. Zackai, E H. Driscoll, D A.: Early ultrasound diagnosis of Neu-Laxova syndrome. Prenatal Diagnosis 21(7): 575-80, Jul 2001.

Markowitz, R I. Zackai, E.: A pragmatic approach to the radiologic diagnosis of pediatric syndromes and skeletal dysplasias. [Review] [6 refs] Radiologic Clinics of North America 39(4): 791-802, xi, Jul 2001.

Gripp, K W. McDonald-McGinn, D M. La Rossa, D. McGain, D. Federman, N. Vlachos, A. Glader, B E. McKenzie, S E. Lipton, J M. Zackai, E H.: Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia. American Journal of Medical Genetics 101(3): 268-74, Jul 1 2001.

McElhinney, D B. Clark, B J 3rd. Weinberg, P M. Kenton, M L. McDonald-McGinn, D. Driscoll, D A. Zackai, E H. Goldmuntz, E.: Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching. Journal of the American College of Cardiology 37(8): 2114-9, Jun 15 2001.

Gripp, K W. Kasparcova, V. McDonald-McGinn, D M. Bhatt, S. Bartlett, S P. Storm, A L. Drumheller, T C. Emanuel, B S. Zackai, E H. Stolle, C A.: A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: fluorescence in situ hybridization and dosage-sensitive Southern blot analysis. Genetics in Medicine 3(2): 102-8, Mar-Apr 2001.

Barlow, G M. Chen, X N. Shi, Z Y. Lyons, G E. Kurnit, D M. Celle, L. Spinner, N B. Zackai, E. Pettenati, M J. Van Riper, A J. Vekemans, M J. Mjaatvedt, C H. Korenberg, J R.: Down syndrome congenital heart disease: a narrowed region and a candidate gene. Genetics in Medicine 3(2): 91-101, Mar-Apr 2001.

Morrissette, J D. Celle, L. Owens, N L. Shields, C L. Zackai, E H. Spinner, N B.: Boy with bilateral retinoblastoma due to an unusual ring chromosome 13 with activation of a latent centromere. American Journal of Medical Genetics 99(1): 21-8, Feb 15 2001.

Woodin, M. Wang, P P. Aleman, D. McDonald-McGinn, D. Zackai, E. Moss, E.: Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion. Genetics in Medicine 3(1): 34-9, Jan-Feb 2001.

Solot, C B. Gerdes, M. Kirschner, R E. McDonald-McGinn, D M. Moss, E. Woodin, M. Aleman, D. Zackai, E H. Wang, P P.: Communication issues in 22q11.2 deletion syndrome: children at risk. Genetics in Medicine 3(1): 67-71, Jan-Feb 2001.

McDonald-McGinn, D M. Tonnesen, M K. Laufer-Cahana, A. Finucane, B. Driscoll, D A. Emanuel, B S. Zackai, E H.: Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!. Genetics in Medicine 3(1): 23-9, Jan-Feb 2001.

Gerdes, M. Solot, C. Wang, P P. McDonald-McGinn, D M. Zackai, E H.: Taking advantage of early diagnosis: preschool children with the 22q11.2 deletion. Genetics in Medicine 3(1): 40-4, Jan-Feb 2001.

2000

Solot C, Knightly C, Handler S, McDonald-McGinn D, Gerdes M, Moss E, Wang P, Cohen M, Randall P, LaRossa D, Driscoll D, Emanuel B, Zackai E: Communication disorders in the 22q11.2 microdeletion syndrome. J Communication Disorders 33:187-204. 33: 187-204, 2000.

Gripp, K W. Zackai, E H. Stolle, C A.: Mutations in the human TWIST gene. Human Mutation 15(2): 150-5, 2000.

Kurahashi, H. Shaikh, T H. Zackai, E H. Celle, L. Driscoll, D A. Budarf, M L. Emanuel, B S.: Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22). American Journal of Human Genetics 67(3): 763-8, Sep 2000.

Anbari, K K. Ierardi-Curto, L A. Silber, J S. Asada, N. Spinner, N. Zackai, E H. Belasco, J. Morrissette, J D. Dormans, J P.: Two primary osteosarcomas in a patient with Rothmund-Thomson syndrome. Clinical Orthopaedics & Related Research(378), 213-23, Sep 2000.

Eicher, P S. McDonald-Mcginn, D M. Fox, C A. Driscoll, D A. Emanuel, B S. Zackai, E H.: Dysphagia in children with a 22q11.2 deletion: unusual pattern found on modified barium swallow. Journal of Pediatrics 137(2): 158-64, Aug 2000.

Hodes, M E. Woodward, K. Spinner, N B. Emanuel, B S. Enrico-Simon, A. Kamholz, J. Stambolian, D. Zackai, E H. Pratt, V M. Thomas, I T. Crandall, K. Dlouhy, S R. Malcolm, S.: Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome. American Journal of Human Genetics 67(1): 14-22, Jul 2000.

Gripp, K W. Wotton, D. Edwards, M C. Roessler, E. Ades, L. Meinecke, P. Richieri-Costa, A. Zackai, E H. Massague, J. Muenke, M. Elledge, S J.: Mutations in TGIF cause holoprosencephaly and link NODAL signaling to human neural axis determination. Nature Genetics 25(2): 205-8, Jun 2000.

Zackai, E H. Gripp, K W. Stolle, C A.: Craniosynostosis: molecular testing-a necessity for counseling.[ American Journal of Medical Genetics 92(2): 157, May 15 2000.

Ming, J E. Blagowidow, N. Knoll, J H. Rollings, L. Fortina, P. McDonald-McGinn, D M. Spinner, N B. Zackai, E H.: Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprinting. American Journal of Medical Genetics 92(1): 19-24, May 1 2000.

Shaikh, T H. Kurahashi, H. Saitta, S C. O'Hare, A M. Hu, P. Roe, B A. Driscoll, D A. McDonald-McGinn, D M. Zackai, E H. Budarf, M L. Emanuel, B S.: Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Human Molecular Genetics 9(4): 489-501, Mar 1 2000.

1999

Zackai EH, Stolle CA : A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome. Am J Hum Genet 63: 1277-1281, 1999.

Shaikh, T H. Budarf, M L. Celle, L. Zackai, E H. Emanuel, B S.: Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families. American Journal of Human Genetics 65(6): 1595-607, Dec 1999.

McDonald-McGinn, D M. Kirschner, R. Goldmuntz, E. Sullivan, K. Eicher, P. Gerdes, M. Moss, E. Solot, C. Wang, P. Jacobs, I. Handler, S. Knightly, C. Heher, K. Wilson, M. Ming, J E. Grace, K. Driscoll, D. Pasquariello, P. Randall, P. Larossa, D. Emanuel, B S. Zackai, E H.: The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genetic Counseling 10(1): 11-24, 1999.

Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM Jr., Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Tolmie JL, Trembath R, Winter RM, Zackai EH, Zori RT, Weng L-P, Dahia PLM, Eng C : PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet 8: 1461-1472, 1999.

Sullivan, K E. McDonald-McGinn, D. Driscoll, D A. Emanuel, B S. Zackai, E H. Jawad, A F.: Longitudinal analysis of lymphocyte function and numbers in the first year of life in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clinical & Diagnostic Laboratory Immunology 6(6): 906-11, Nov 1999.

Bohring, A. Lewin, S O. Reynolds, J F. Voigtlander, T. Rittinger, O. Carey, J C. Kopernik, M. Smith, R. Zackai, E H. Leonard, N J. Gritter, H L. Bamforth, J S. Okun, N. McLeod, D R. Super, M. Powell, P. Mundlos, S. Hennekam, R C. van Langen, I M. Viskochil, D H. Wiedemann, H R. Opitz, J M.: Polytopic anomalies with agenesis of the lower vertebral column. American Journal of Medical Genetics 87(2): 99-114, Nov 19 1999.

Zackai, E H.: Deletion 4q34.2. American Journal of Medical Genetics 86(2): 197-8, Sep 10 1999.

Saitta, S C. McGrath, J M. Mensch, H. Shaikh, T H. Zackai, E H. Emanuel, B S.: A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects. American Journal of Human Genetics 65(2): 562-6, Aug 1999.

Gerdes, M. Solot, C. Wang, P P. Moss, E. LaRossa, D. Randall, P. Goldmuntz, E. Clark, B J 3rd. Driscoll, D A. Jawad, A. Emanuel, B S. McDonald-McGinn, D M. Batshaw, M L. Zackai, E H.: Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion. American Journal of Medical Genetics 85(2): 127-33, Jul 16 1999.

Wallis, D E. Roessler, E. Hehr, U. Nanni, L. Wiltshire, T. Richieri-Costa, A. Gillessen-Kaesbach, G. Zackai, E H. Rommens, J. Muenke, M.: Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nature Genetics 22(2): 196-8, Jun 1999.

Krantz, I D. Smith, R. Colliton, R P. Tinkel, H. Zackai, E H. Piccoli, D A. Goldmuntz, E. Spinner, N B.: Jagged1 mutations in patients ascertained with isolated congenital heart defects. American Journal of Medical Genetics 84(1): 56-60, May 7 1999.

Gripp, K W. Zackai, E H. Cohen, M M Jr.: Not Antley-Bixler syndrome. American Journal of Medical Genetics 83(1): 65-8, Mar 5 1999.

Oldridge, M. Zackai, E H. McDonald-McGinn, D M. Iseki, S. Morriss-Kay, G M. Twigg, S R. Johnson, D. Wall, S A. Jiang, W. Theda, C. Jabs, E W. Wilkie, A O.: De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. American Journal of Human Genetics 64(2): 446-61, Feb 1999.

Moss, E M. Batshaw, M L. Solot, C B. Gerdes, M. McDonald-McGinn, D M. Driscoll, D A. Emanuel, B S. Zackai, E H. Wang, P P.: Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern.[see comment]. Journal of Pediatrics 134(2): 193-8, Feb 1999.

Gripp, K W. Barr, M Jr. Anadiotis, G. McDonald-McGinn, D M. Zderic, S A. Zackai, E H.: Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother. American Journal of Medical Genetics 82(5): 363-7, Feb 19 1999.

Gripp, K W. Stolle, C A. Celle, L. McDonald-McGinn, D M. Whitaker, L A. Zackai, E H.: TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. American Journal of Medical Genetics 82(2): 170-6, Jan 15 1999.

Gecz, J. Baker, E. Donnelly, A. Ming, J E. McDonald-McGinn, D M. Spinner, N B. Zackai, E H. Sutherland, G R. Mulley, J C.: Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Borjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient. Human Genetics 104(1): 56-63, Jan 1999.

1998

Zackai, E H. Stolle, C A.: A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome. American Journal of Human Genetics 63(5): 1277-81, Nov 1998.

Bingham, P M. Lynch, D. McDonald-McGinn, D. Zackai, E.: Polymicrogyria in chromosome 22 delection syndrome. Neurology 51(5): 1500-2, Nov 1998.

Wang, P P. Solot, C. Moss, E M. Gerdes, M. McDonald-McGinn, D M. Driscoll, D A. Emanuel, B S. Zackai, E H.: Developmental presentation of 22q11.2 deletion (DiGeorge/velocardiofacial syndrome). Journal of Developmental & Behavioral Pediatrics 19(5): 342-5, Oct 1998.

Ming, J E. Katowitz, J. McDonald-McGinn, D M. Schnur, R E. Hunter, J V. Zackai, E H.: Hemifacial microsomia in a newborn with hypoplastic skin lesions, an eyelid skin tag, and microphthalmia: an unusual presentation of Delleman syndrome. Clinical Dysmorphology 7(4): 279-83, Oct 1998.

Ramos, F J. Kaplan, B S. Bellah, R D. Zackai, E H. Kaplan, P.: Further evidence that the Hajdu-Cheney syndrome and the "serpentine fibula-polycystic kidney syndrome" are a single entity. American Journal of Medical Genetics 78(5): 474-81, Aug 6 1998.

Gripp, K W. Zimmerman, R A. Wang, Z J. Rorke, L B. Duhaime, A C. Schut, L. Molloy, P T. Tucker, S H. Zackai, E H. Muenke, M.: Imaging studies in a unique familial dysmyelinating disorder. American Journal of Neuroradiology 19(7): 1368-72, Aug 1998.

Goldmuntz, E. Clark, B J. Mitchell, L E. Jawad, A F. Cuneo, B F. Reed, L. McDonald-McGinn, D. Chien, P. Feuer, J. Zackai, E H. Emanuel, B S. Driscoll, D A.: Frequency of 22q11 deletions in patients with conotruncal defects.[see comment]. Journal of the American College of Cardiology 32(2): 492-8, Aug 1998.

Gripp, K W. Stolle, C A. McDonald-McGinn, D M. Markowitz, R I. Bartlett, S P. Katowitz, J A. Muenke, M. Zackai, E H.: Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III. American Journal of Medical Genetics 78(4): 356-60, Jul 24 1998.

Weinzimer, S A. McDonald-McGinn, D M. Driscoll, D A. Emanuel, B S. Zackai, E H. Moshang, T Jr.: Growth hormone deficiency in patients with 22q11.2 deletion: expanding the phenotype. Pediatrics 101(5): 929-32, May 1998.

Smith, C A. Driscoll, D A. Emanuel, B S. McDonald-McGinn, D M. Zackai, E H. Sullivan, K E.: Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clinical & Diagnostic Laboratory Immunology 5(3): 415-7, May 1998.

Gripp, K W. McDonald-McGinn, D M. Gaudenz, K. Whitaker, L A. Bartlett, S P. Glat, P M. Cassileth, L B. Mayro, R. Zackai, E H. Muenke, M.: Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3. Journal of Pediatrics 132(4): 714-6, Apr 1998.

Sullivan, K E. Jawad, A F. Randall, P. Driscoll, D A. Emanuel, B S. McDonald-McGinn, D M. Zackai, E H.: Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes. Clinical Immunology & Immunopathology 86(2): 141-6, Feb 1998.

Du, J S. Bason, L. Woffendin, H. Zackai, E. Kenwrick, S.: Somatic and germ line mosaicism and mutation origin for a mutation in the L1 gene in a family with X-linked hydrocephalus. American Journal of Medical Genetics 75(2): 200-2, Jan 13 1998.

1997

Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Markowitz RI, Robin NH, Nwokoro N, Mulvihill JJ, Losken W, Mulliken JB, Guttmacher AE, Wilroy RS, Clarke LA, Hollway G, Ades LC, Haan EA, Mulley JC, Cohen MM Jr, Bellus GA, Francomano CA, Moloney DM, Wall SA, Wilkie AOM, Zackai EH: A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet 60: 555-564, 1997.

Ming, J E. McDonald-McGinn, D M. Markowitz, R I. Ruchelli, E. Zackai, E H.: Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: expanding the phenotype of Cumming syndrome. American Journal of Medical Genetics 73(4): 419-24, Dec 31 1997.

McDonald-McGinn, D M. LaRossa, D. Goldmuntz, E. Sullivan, K. Eicher, P. Gerdes, M. Moss, E. Wang, P. Solot, C. Schultz, P. Lynch, D. Bingham, P. Keenan, G. Weinzimer, S. Ming, J E. Driscoll, D. Clark, B J 3rd. Markowitz, R. Cohen, A. Moshang, T. Pasquariello, P. Randall, P. Emanuel, B S. Zackai, E H.: The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genetic Testing 1(2): 99-108, 1997.

Needle, M N. Cnaan, A. Dattilo, J. Chatten, J. Phillips, P C. Shochat, S. Sutton, L N. Vaughan, S N. Zackai, E H. Zhao, H. Molloy, P T.: Prognostic signs in the surgical management of plexiform neurofibroma: the Children's Hospital of Philadelphia experience, 1974-1994. Journal of Pediatrics 131(5): 678-82, Nov 1997.

Ming, J E. McDonald-McGinn, D M. Megerian, T E. Driscoll, D A. Elias, E R. Russell, B M. Irons, M. Emanuel, B S. Markowitz, R I. Zackai, E H.: Skeletal anomalies and deformities in patients with deletions of 22q11. American Journal of Medical Genetics 72(2): 210-5, Oct 17 1997.

McDonald-McGinn, D M. Zackai, E H. Low, D.: What's in a name? The 22q11.2 deletion. American Journal of Medical Genetics 72(2): 247-9, Oct 17 1997.

Feldman, G J. Ward, D E. Lajeunie-Renier, E. Saavedra, D. Robin, N H. Proud, V. Robb, L J. Der Kaloustian, V. Carey, J C. Cohen, M M Jr. Cormier, V. Munnich, A. Zackai, E H. Wilkie, A O. Price, R A. Muenke, M.: A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22. Human Molecular Genetics 6(11): 1937-41, Oct 1997.

Del Bigio, M R. Greenberg, C R. Rorke, L B. Schnur, R. McDonald-McGinn, D M. Zackai, E H.: Neuropathological findings in eight children with cerebro-oculo-facio-skeletal (COFS) syndrome. Journal of Neuropathology & Experimental Neurology 56(10): 1147-57, Oct 1997.

Keenan, G F. Sullivan, K E. McDonald-McGinn, D M. Zackai, E H.: Arthritis associated with deletion of 22q11.2: more common than previously suspected.[comment]. American Journal of Medical Genetics 71(4): 488, Sep 5 1997.

Bingham, P M. Zimmerman, R A. McDonald-McGinn, D. Driscoll, D. Emanuel, B S. Zackai, E.: Enlarged Sylvian fissures in infants with interstitial deletion of chromosome 22q11. American Journal of Medical Genetics 74(5): 538-43, Sep 19 1997.

Gripp, K W. Scott, C I Jr. Hughes, H E. Wallerstein, R. Nicholson, L. States, L. Bason, L D. Kaplan, P. Zderic, S A. Duhaime, A C. Miller, F. Magnusson, M R. Zackai, E H.: Lateral meningocele syndrome: three new patients and review of the literature. [Review] [11 refs] American Journal of Medical Genetics 70(3): 229-39, Jun 13 1997.

Pellegrino, J E. McDonald-McGinn, D M. Schneider, A. Markowitz, R I. Zackai, E H.: Further clinical delineation and increased morbidity in males with osteopathia striata with cranial sclerosis: an X-linked disorder?. American Journal of Medical Genetics 70(2): 159-65, May 16 1997.

McDonald-McGinn, D M. Driscoll, D A. Emanuel, B S. Goldmuntz, E. Clark, B J 3rd. Solot, C. Cohen, M. Schultz, P. LaRossa, D. Randall, P. Zackai, E H.: Detection of a 22q11.2 deletion in cardiac patients suggests a risk for velopharyngeal incompetence. Pediatrics 99(5): E9, May 1997.

Zackai, E H. Robin, N H. McDonald-McGinn, D M.: Sibs with cleidocranial dysplasia born to normal parents: germ line mosaicism?. [Review] [30 refs] American Journal of Medical Genetics 69(4): 348-51, Apr 14 1997.

Sullivan, K E. McDonald-McGinn, D M. Driscoll, D A. Zmijewski, C M. Ellabban, A S. Reed, L. Emanuel, B S. Zackai, E H. Athreya, B H. Keenan, G.: Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome). Arthritis & Rheumatism 40(3): 430-6, Mar 1997.

Schnur, R E. Zackai, E H.: Circumferential ringed creases ("Michelin tire babies") with specific histologic findings and/or karyotype abnormalities: clues to molecular pathogenesis?[comment]. American Journal of Medical Genetics 69(2): 221, Mar 17 1997.

Holmes, S E. Riazi, M A. Gong, W. McDermid, H E. Sellinger, B T. Hua, A. Chen, F. Wang, Z. Zhang, G. Roe, B. Gonzalez, I. McDonald-McGinn, D M. Zackai, E. Emanuel, B S. Budarf, M L.: Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation. Human Molecular Genetics 6(3): 357-67, Mar 1997.

Gripp, K W. McDonald-McGinn, D M. Driscoll, D A. Reed, L A. Emanuel, B S. Zackai, E H.: Nasal dimple as part of the 22q11.2 deletion syndrome. American Journal of Medical Genetics 69(3): 290-2, Mar 31 1997.

Wright, T J. Ricke, D O. Denison, K. Abmayr, S. Cotter, P D. Hirschhorn, K. Keinanen, M. McDonald-McGinn, D. Somer, M. Spinner, N. Yang-Feng, T. Zackai, E. Altherr, M R.: A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. Human Molecular Genetics 6(2): 317-24, Feb 1997.

Gripp, K W. Donnai, D. Clericuzio, C L. McDonald-McGinn, D M. Guttenberg, M. Zackai, E H.: Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance. American Journal of Medical Genetics 68(4): 441-4, Feb 11 1997.

Oldridge, M. Lunt, P W. Zackai, E H. McDonald-McGinn, D M. Muenke, M. Moloney, D M. Twigg, S R. Heath, J K. Howard, T D. Hoganson, G. Gagnon, D M. Jabs, E W. Wilkie, A O.: Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. Human Molecular Genetics 6(1): 137-43, Jan 1997.

1996

Trivier, E. De Cesare, D. Jacquot, S. Pannetier, S. Zackai, E. Young, I. Mandel, J L. Sassone-Corsi, P. Hanauer, A.: Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. Nature 384(6609): 567-70, Dec 12 1996.

Wilson, M C. McDonald-McGinn, D M. Quinn, G E. Markowitz, G D. LaRossa, D. Pacuraru, A D. Zhu, X. Zackai, E H.: Long-term follow-up of ocular findings in children with Stickler's syndrome. American Journal of Ophthalmology 122(5): 727-8, Nov 1996.

Li, M. Zackai, E H. Niikawa, N. Kaplan, P. Driscoll, D A.: Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2. American Journal of Medical Genetics 65(2): 101-3, Oct 16 1996.

Gorlin, R J. Zellweger, H. Curtis, M W. Wiedemann, H R. Warburg, M. Majewski, F. Gillessen-Kaesbach, G. Prahl-Andersen, B. Zackai, E.: Blepharo-cheilo-dontic (BCD) syndrome. American Journal of Medical Genetics 65(2): 109-12, Oct 16 1996.

Bellus, G A. Gaudenz, K. Zackai, E H. Clarke, L A. Szabo, J. Francomano, C A. Muenke, M.: Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nature Genetics 14(2): 174-6, Oct 1996.

Ludlow, L B. Schick, B P. Budarf, M L. Driscoll, D A. Zackai, E H. Cohen, A. Konkle, B A.: Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome. Journal of Biological Chemistry 271(36): 22076-80, Sep 6 1996.

Bingham, P M. Spinner, N B. Sovinsky, L. Zackai, E H. Chance, P F.: Infantile spasms associated with proximal duplication of chromosome 15q. Pediatric Neurology 15(2): 163-5, Sep 1996.

McDonald-McGinn, D M. Emanuel, B S. Zackai, E H.: Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.[comment]. American Journal of Medical Genetics 64(3): 525-6, Aug 23 1996.

Ahmad, N N. McDonald-McGinn, D M. Dixon, P. Zackai, E H. Tasman, W S.: PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome. Journal of Medical Genetics 33(8): 678-81, Aug 1996.

Pellegrino, J E. Schnur, R E. Boghosian-Sell, L. Strathdee, G. Overhauser, J. Spinner, N B. Stump, T. Grace, K. Zackai, E H.: Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q. Human Genetics 97(4): 532-6, Apr 1996.

Mahr, R N. Moberg, P J. Overhauser, J. Strathdee, G. Kamholz, J. Loevner, L A. Campbell, H. Zackai, E H. Reber, M E. Mozley, D P. Brown, L. Turetsky, B I. Shapiro, R M.: Neuropsychiatry of 18q- syndrome. American Journal of Medical Genetics 67(2): 172-8, Apr 9 1996.

Pellegrino, J E. Pellegrino, L. Spinner, N B. Sladky, J. Chance, P F. Zackai, E H.: Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy. American Journal of Medical Genetics 61(4): 377-81, Feb 2 1996.

Robin, N H. Neidich, J A. Bason, L D. Whitaker, L A. McDonald-McGinn, D. Hunter, J. Snyder, H M 3rd. Zackai, E H.: Frontonasal malformation and cloacal exstrophy: a previously unreported association. American Journal of Medical Genetics 61(1): 75-8, Jan 2 1996.

1995

Strathdee, G. Zackai, E H. Shapiro, R. Kamholz, J. Overhauser, J.: Analysis of clinical variation seen in patients with 18q terminal deletions. American Journal of Medical Genetics 59(4): 476-83, Dec 4 1995.

McDonald-McGinn DM, Driscoll DA, Bason L, Christensen K, Lynch D, Sullivan K, Canning D, Zavod W, Quinn N, Rome J, Paris Y, Weinberg P, Clark BJ, Emanuel BS, Zackai EH : Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion. Am J Med Genet 59: 103-113, 1995.

Overhauser, J. Mitchell, H F. Zackai, E H. Tick, D B. Rojas, K. Muenke, M.: Physical mapping of the holoprosencephaly critical region in 18p11.3. American Journal of Human Genetics 57(5): 1080-5, Nov 1995.

Pellegrino, J.E. Schnur, R.E. Kline, R. Zackai, E.H. Spinner, N B.: Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene?. Human Genetics 96(4): 485-9, Oct 1995.

Molloy, P T. Bilaniuk, L T. Vaughan, S N. Needle, M N. Liu, G T. Zackai, E H. Phillips, P C.: Brainstem tumors in patients with neurofibromatosis type 1: a distinct clinical entity. Neurology 45(10): 1897-902, Oct 1995.

Lynch, D R. McDonald-McGinn, D M. Zackai, E H. Emanuel, B S. Driscoll, D A. Whitaker, L A. Fischbeck, K H.: Cerebellar atrophy in a patient with velocardiofacial syndrome. Journal of Medical Genetics 32(7): 561-3, Jul 1995.

DiPaolo, D P. Zimmerman, R A. Rorke, L B. Zackai, E H. Bilaniuk, L T. Yachnis, A T.: Neurofibromatosis type 1: pathologic substrate of high-signal-intensity foci in the brain. Radiology 195(3): 721-4, Jun 1995.

Spinner, N.B. Zackai, E., Cheng, S D. Knoll, J H.: Supernumerary inv dup(15) in a patient with Angelman syndrome and a deletion of 15q11-q13. American Journal of Medical Genetics 57(1): 61-5, May 22 1995.

Feldman, G J. Robin, N H. Brueton, L A. Robertson, E. Thompson, E M. Siegel-Bartelt, J. Gasser, D L. Bailey, L C. Zackai, E H. Muenke, M.: A gene for cleidocranial dysplasia maps to the short arm of chromosome 6. American Journal of Human Genetics 56(4): 938-43, Apr 1995.

Budarf, M L. Konkle, B A. Ludlow, L B. Michaud, D. Li, M. Yamashiro, D J. McDonald-McGinn, D. Zackai, E H. Driscoll, D A.: Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2. Human Molecular Genetics 4(4): 763-6, Apr 1995.

Spinner, N B. Grace, K R. Owens, N L. Sovinsky, L. Pellegrino, J E. McDonald-McGinn, D. Zackai, E.: Mosaicism for a chromosome 8-derived minute marker chromosome in a patient with manifestations of trisomy 8 mosaicism. American Journal of Medical Genetics 56(1): 22-4, Mar 13 1995.

Schell, U. Hehr, A. Feldman, G J. Robin, N H. Zackai, E H. de Die-Smulders, C. Viskochil, D H. Stewart, J M. Wolff, G. Ohashi, H. et al.: Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. Human Molecular Genetics 4(3): 323-8, Mar 1995.

Robin, N H. Sellinger, B. McDonald-McGinn, D. Zackai, E H. Emanuel, B S. Driscoll, D A.: Classical Noonan syndrome is not associated with deletions of 22q11. American Journal of Medical Genetics 56(1): 94-6, Mar 13 1995.

Kaplan, P. Ramos, F. Zackai, E H. Bellah, R D. Kaplan, B S.: Cystic kidney disease in Hajdu-Cheney syndrome. [Review] [28 refs] American Journal of Medical Genetics 56(1): 25-30, Mar 13 1995.

Janss, A J. Grundy, R. Cnaan, A. Savino, P J. Packer, R J. Zackai, E H. Goldwein, J W. Sutton, L N. Radcliffe, J. Molloy, P T. et al.: Optic pathway and hypothalamic/chiasmatic gliomas in children younger than age 5 years with a 6-year follow-up. Cancer 75(4): 1051-9, Feb 15 1995.

Cirillo-Hyland, V A. Zackai, E H. Honig, P J. Grace, K R. Schnur, R E.: Reevaluation of a kindred with congenital absence of dermal ridges, syndactyly, and facial milia. Journal of the American Academy of Dermatology 32(2 Pt 2): 315-8, Feb 1995.

Aqua, M S. Rizzu, P. Lindsay, E A. Shaffer, L G. Zackai, E H. Overhauser, J. Baldini, A.: Duplication 3q syndrome: molecular delineation of the critical region. American Journal of Medical Genetics 55(1): 33-7, Jan 2 1995.

1994

Robin, N H. Feldman, G J. Mitchell, H F. Lorenz, P. Wilroy, R S. Zackai, E H. Allanson, J E. Reich, E W. Pfeiffer, R A. Clarke, L A. et al.: Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity. Human Molecular Genetics 3(12): 2153-8, Dec 1994.

Robin, N H. Curtis, M T. Mulla, W. Reynolds, C A. Anday, E. Rorke, L B. Zackai, E H.: Non-immune hydrops fetalis associated with impaired fetal movement: a case report and review. American Journal of Medical Genetics 53(3): 251-4, Nov 15 1994.

Lee, S T. Nicholls, R D. Schnur, R E. Guida, L C. Lu-Kuo, J. Spinner, N B. Zackai, E H. Spritz, R A.: Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). Human Molecular Genetics 3(11): 2047-51, Nov 1994.

Cheng, S D. Spinner, N B. Zackai, E H. Knoll, J H.: Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients. American Journal of Human Genetics 55(4): 753-9, Oct 1994.

Boghosian-Sell, L. Mewar, R. Harrison, W. Shapiro, R M. Zackai, E H. Carey, J. Davis-Keppen, L. Hudgins, L. Overhauser, J.: Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18. American Journal of Human Genetics 55(3): 476-83, Sep 1994.

Robin, N H. Zackai, E H.: Unusual craniofacial dysmorphia due to prenatal alcohol and cocaine exposure. Teratology 50(2): 160-4, Aug 1994.

Bergoffen, J. Kant, J. Sladky, J. McDonald-McGinn, D. Zackai, E H. Fischbeck, K H.: Paternal transmission of congenital myotonic dystrophy. Journal of Medical Genetics 31(7): 518-20, Jul 1994.

Smullen, S. Willcox, T. Wetmore, R. Zackai, E.: Otologic manifestations of neurofibromatosis. Laryngoscope 104(6 Pt 1): 663-5, Jun 1994.

Boggs, S. Harris, M C. Hoffman, D J. Goel, R. McDonald-McGinn, D. Langston, C. Zackai, E. Ruchelli, E.: Misalignment of pulmonary veins with alveolar capillary dysplasia: affected siblings and variable phenotypic expression. Journal of Pediatrics 124(1): 125-8, Jan 1994.

1993

Robin, N H. Magnusson, M. McDonald-McGinn, D. Zackai, E H. Spinner, N B.: De novo interstitial deletion of the long arm of chromosome 3: 46,XX,del(3)(q25.1q26.1). Clinical Genetics 44(6): 335-7, Dec 1993.

Emanuel, B S. Driscoll, D. Goldmuntz, E. Baldwin, S. Biegel, J. Zackai, E H. McDonald-McGinn, D. Sellinger, B. Gorman, N. Williams, S. et al.: Molecular and phenotypic analysis of the chromosome 22 microdeletion syndromes. [Review] [52 refs] Progress in Clinical & Biological Research 384: 207-24, 1993.

Robin, N H. Grace, K. DeSouza, T G. McDonald-McGinn, D. Zackai, E H.: New finding of Schinzel-Giedion syndrome: a case with a malignant sacrococcygeal teratoma. American Journal of Medical Genetics 47(6): 852-6, Nov 1 1993.

Robin, N H. Adewale, O O. McDonald-McGinn, D. Nadeau, J H. Zackai, E H. Bucan, M.: Human malformations similar to those in the mouse mutation disorganization (Ds). Human Genetics 92(5): 461-4, Nov 1993.

Reid, C S. McMorrow, L E. McDonald-McGinn, D M. Grace, K J. Ramos, F J. Zackai, E H. Cohen, M M Jr. Jabs, E W.: Saethre-Chotzen syndrome with familial translocation at chromosome 7p22. American Journal of Medical Genetics 47(5): 637-9, Oct 1 1993.

Goldmuntz, E. Driscoll, D. Budarf, M L. Zackai, E H. McDonald-McGinn, D M. Biegel, J A. Emanuel, B S.: Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. Journal of Medical Genetics 30(10): 807-12, Oct 1993.

Driscoll, D A. Salvin, J. Sellinger, B. Budarf, M L. McDonald-McGinn, D M. Zackai, E H. Emanuel, B S.: Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counseling and prenatal diagnosis. Journal of Medical Genetics 30(10): 813-7, Oct 1993.

Callen, D F. Eyre, H. Lane, S. Shen, Y. Hansmann, I. Spinner, N. Zackai, E. McDonald-McGinn, D. Schuffenhauer, S. Wauters, J. et al.: High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype. Journal of Medical Genetics 30(10): 828-32, Oct 1993.

Bacal, D A. Nelson, L B. Zackai, E H. Lavrich, J B. Kousseff, B G. McDonald-McGinn, D.: Ankyloblepharon filiforme adnatum in trisomy 18. Journal of Pediatric Ophthalmology & Strabismus 30(5): 337-9, Sep-Oct 1993.

Kline, A D. White, M E. Wapner, R. Rojas, K. Biesecker, L G. Kamholz, J. Zackai, E H. Muenke, M. Scott, C I Jr. Overhauser, J.: Molecular analysis of the 18q- syndrome--and correlation with phenotype. [Review] [39 refs] American Journal of Human Genetics 52(5): 895-906, May 1993.

Spinner, N B. Biegel, J A. Sovinsky, L. McDonald-McGinn, D. Rehberg, K. Parmiter, A H. Zackai, E H.: 46,XX,15p+ documented as dup (17p) by fluorescence in situ hybridization. American Journal of Medical Genetics 46(1): 95-7, Apr 1 1993.

Bergoffen, J. Punnett, H. Campbell, T J. Ross, A J 3rd. Ruchelli, E. Zackai, E H.: Diaphragmatic hernia in tetrasomy 12p mosaicism. Journal of Pediatrics 122(4): 603-6, Apr 1993.

Schnur, R E. Herzberg, A J. Spinner, N. Kant, J A. Magnusson, M. McDonald-McGinn, D. Rehberg, K. Honig, P J. Zackai, E H.: Variability in the Michelin tire syndrome. A child with multiple anomalies, smooth muscle hamartoma, and familial paracentric inversion of chromosome 7q. [Review] [21 refs] Journal of the American Academy of Dermatology 28(2 Pt 2): 364-70, Feb 1993.

Biegel, J A. White, P S. Marshall, H N. Fujimori, M. Zackai, E H. Scher, C D. Brodeur, G M. Emanuel, B S.: Constitutional 1p36 deletion in a child with neuroblastoma. American Journal of Human Genetics 52(1): 176-82, Jan 1993.

Ahmad, N N. McDonald-McGinn, D M. Zackai, E H. Knowlton, R G. LaRossa, D. DiMascio, J. Prockop, D J.: A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon. American Journal of Human Genetics 52(1): 39-45, Jan 1993.

1992

Ramos, F J. McDonald-McGinn, D M. Emanuel, B S. Zackai, E H.: Tricho-rhino-phalangeal syndrome type II (Langer-Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletion. American Journal of Medical Genetics 44(6): 790-4, Dec 1 1992.

Driscoll DA, Spinner NB, Budarf ML, McDonald-McGinn DM, Zackai EH, Goldberg RB, Shprintzen RJ, Saal HM, Zonana J, Jones MC, Mascarello JT, Emanuel BS: Deletions and microdeletions of 22q11.2 in Velo-Cardio-Facial syndrome. Am J Med Genet 44: 261-268, 1992.

Driscoll, D A. Spinner, N B. Budarf, M L. McDonald-McGinn, D M. Zackai, E H. Goldberg, R B. Shprintzen, R J. Saal, H M. Zonana, J. Jones, M C. et al.: Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J Med Genet 44(2): 261-268, Sep 15 1992.

Rose, N C. Menacker, S J. Schnur, R E. Jackson, L. McDonald-McGinn, D M. Stump, T. Emanuel, B S. Zackai, E H.: Ocular albinism in a male with del (6)(q13-q15): candidate region for autosomal recessive ocular albinism?. American Journal of Medical Genetics 42(5): 700-5, Mar 1 1992.

Gutmann DH, Zackai EH, Emanuel BS: Letter to the Editor: Congenital nystagmus in a 46,XX/45,X mosaic woman from a family with X-linked congenital nystagmus. Am J Med Genet 43: 897, 1992)

1991

Muenke, M. Ruchelli, E D. Rorke, L B. McDonald-McGinn, D M. Orlow, M K. Isaacs, A. Craparo, F J. Dunn, L K. Zackai, E H.: On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome. American Journal of Medical Genetics 41(4): 548-56, Dec 15 1991.

Gutmann, D H. Zackai, E H. McDonald-McGinn, D M. Fischbeck, K H. Kamholz, J.: Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter. American Journal of Medical Genetics 41(1): 18-20, Oct 1 1991.

Weiss, B J. Kamholz, J. Ritter, A. Zackai, E H. McDonald-McGinn, D M. Emanuel, B. Fischbeck, K H.: Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion. Annals of Neurology 30(3): 419-23, Sep 1991.

Rose, N C. Schneider, A. McDonald-McGinn, D M. Caserta, C. Emanuel, B S. Zackai, E H.: Interstitial deletion of 4(q21q25) in a liveborn male. American Journal of Medical Genetics 40(1): 77-9, Jul 1 1991.

Gutmann, D H. Brooks, M L. Emanuel, B S. McDonald-McGinn, D M. Zackai, E H.: Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus.[see comment]. American Journal of Medical Genetics 39(2): 167-9, May 1 1991.

1990

Punnett HH, Zackai EH : Old syndromes and new cytogenetics. Annotations to Devel Med Child Neurol 32: 820-831, 1990.

Kronwith, S D. Quinn, G. McDonald, D M. Cardonick, E. Onyx, P. LaRossa, D. Borns, P. Stambolian, D E. Zackai, E H.: Stickler's syndrome in the Cleft Palate Clinic. Journal of Pediatric Ophthalmology & Strabismus 27(5): 265-7, Sep-Oct 1990.

Rasmussen, S A. Frias, J L. Lafer, C Z. Eunpu, D L. Zackai, E H.: Partial duplication 1q: report of four patients and review of the literature. American Journal of Medical Genetics 36(2): 137-43, Jun 1990.

Munke, M. McDonald, D M. Cronister, A. Stewart, J M. Gorlin, R J. Zackai, E H.: Oral-facial-digital syndrome type VI (Varadi syndrome): further clinical delineation.[see comment]. American Journal of Medical Genetics 35(3): 360-9, Mar 1990.

1989

Glauser, T A. Zackai, E. Weinberg, P. Clancy, R.: Holt-Oram syndrome associated with the hypoplastic left heart syndrome. Clinical Genetics 36(1): 69-72, Jul 1989.

Obringer, A C. Meadows, A T. Zackai, E H.: The diagnosis of neurofibromatosis-1 in the child under the age of 6 years. American Journal of Diseases of Children 143(6): 717-9, Jun 1989.

Spinner, N B. Eunpu, D L. Schmickel, R D. Zackai, E H. McEldrew, D. Bunin, G R. McDermid, H. Emanuel, B S.: The role of cytologic NOR variants in the etiology of trisomy 21. American Journal of Human Genetics 44(5): 631-8, May 1989.

Donnenfeld, A E. Packer, R J. Zackai, E H. Chee, C M. Sellinger, B. Emanuel, B S.: Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome. American Journal of Medical Genetics 32(4): 461-7, Apr 1989.

Robins, D B. Ladda, R L. Thieme, G A. Boal, D K. Emanuel, B S. Zackai, E H.: Prenatal detection of Roberts-SC phocomelia syndrome: report of 2 sibs with characteristic manifestations. [Review] [20 refs] American Journal of Medical Genetics 32(3): 390-4, Mar 1989.

1988

Packer, R J. Bilaniuk, L T. Cohen, B H. Braffman, B H. Obringer, A C. Zimmerman, R A. Siegel, K R. Sutton, L N. Savino, P J. Zackai, E H. et al.: Intracranial visual pathway gliomas in children with neurofibromatosis. Neurofibromatosis 1(4): 212-22, 1988.

Obringer, A C. Zackai, E H. Meadows, A T.: The Neurofibromatosis Clinic of the Children's Hospital of Philadelphia. Neurofibromatosis 1(3): 179-81, 1988.

Neidich, J A. Whitaker, L A. Natowicz, M. McDonald, D M. Schnur, R. Zackai, E H.: Aglossia with congenital absence of the mandibular rami and other craniofacial abnormalities. American Journal of Medical Genetics - Supplement 4: 161-6, 1988.

Natowicz M, Chatten J, Clancy R, Conard K, Glauser TA, Huff D, Kelley R, Lin A, Norwood W, Rorke L, Uri A, Weinberg P, Zackai EH: Genetic disorders and major extracardiac anomalies associated with the hypoplastic left heart syndrome. Pediatr 82: 698-706, 1988.

Stambolian, D. Quinn, G. Emanuel, B S. Zackai, E.: Congenital glaucoma associated with a chromosomal abnormality. American Journal of Ophthalmology 106(5): 625-7, Nov 15 1988.

Munke, M. Page, D C. Brown, L G. Armson, B A. Zackai, E H. Mennuti, M T. Emanuel, B S.: Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male. Human Genetics 80(3): 219-23, Nov 1988.

Munke, M. Emanuel, B S. Zackai, E H.: Holoprosencephaly: association with interstitial deletion of 2p and review of the cytogenetic literature. American Journal of Medical Genetics 30(4): 929-38, Aug 1988.

Marion, R W. Chitayat, D. Hutcheon, R G. Neidich, J A. Zackai, E H. Singer, L P. Warman, M.: Trisomy 18 score: a rapid, reliable diagnostic test for trisomy 18. Journal of Pediatrics 113(1 Pt 1): 45-8, Jul 1988.

Kelley, R I. Mennuti, M T. Hickey, W F. Zackai, E H.: X-linked recessive aqueductal stenosis without macrocephaly. Clinical Genetics 33(5): 390-4, May 1988.

Stambolian, D. Zackai, E H.: Gene location in neurofibromatosis. American Journal of Medical Genetics 29(4): 963-5, Apr 1988.

Gorski, J L. Kistenmacher, M L. Punnett, H H. Zackai, E H. Emanuel, B S.: Reproductive risks for carriers of complex chromosome rearrangements: analysis of 25 families. American Journal of Medical Genetics 29(2): 247-61, Feb 1988.

Cronk, C. Crocker, A C. Pueschel, S M. Shea, A M. Zackai, E. Pickens, G. Reed, R B.: Growth charts for children with Down syndrome: 1 month to 18 years of age. Pediatrics 81(1): 102-10, Jan 1988.

1987

Schnur, R E. Eunpu, D L. Zackai, E H.: Thrombocytopenia with absent radius in a boy and his uncle. [Review] [24 refs] American Journal of Medical Genetics 28(1): 117-23, Sep 1987.

Lin, A E. Chin, A J. Devine, W. Park, S C. Zackai, E.: The pattern of cardiovascular malformation in the CHARGE association. American Journal of Diseases of Children 141(9): 1010-3, Sep 1987.

Neidich, J. Zackai, E. Aronson, M. Emanuel, B S.: Deletion of 2p: a cytogenetic and clinical update. American Journal of Medical Genetics 27(3): 707-10, Jul 1987.

Donnenfeld, A E. Zackai, E H. McDonald, D M. Aquino, R. Emanuel, B S.: De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome. Journal of Medical Genetics 24(7): 436-9, Jul 1987.

Donnenfeld, A E. Conard, K A. Roberts, N S. Borns, P F. Zackai, E H.: Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome. American Journal of Medical Genetics 27(1): 159-73, May 1987.

Boden, S D. Kaplan, F S. Fallon, M D. Ruddy, R. Belik, J. Anday, E. Zackai, E. Ellis, J.: Metatropic dwarfism. Uncoupling of endochondral and perichondral growth. Journal of Bone & Joint Surgery - American Volume 69(2): 174-84, Feb 1987.

1986

Gorski, J L. Emanuel, B S. Zackai, E H. Mennuti, M.: Complex chromosomal rearrangement and multiple spontaneous abortions. Human Genetics 74(3): 326, Nov 1986.

Eunpu, D L. McDonald, D M. Zackai, E H.: Trisomy 21: rate in second-degree relatives. American Journal of Medical Genetics 25(2): 361-3, Oct 1986.

Schneider, M. Obringer, A C. Zackai, E. Meadows, A T.: Childhood neurofibromatosis: risk factors for malignant disease. Cancer Genetics & Cytogenetics 21(4): 347-54, Apr 15 1986.

Lin, A E. Bernar, J. Chin, A J. Sparkes, R S. Emanuel, B S. Zackai, E H.: Congenital heart disease in supernumerary der(22),t(11;22) syndrome. Clinical Genetics 29(4): 269-75, Apr 1986.

Kelley, R I. Datta, N S. Dobyns, W B. Hajra, A K. Moser, A B. Noetzel, M J. Zackai, E H. Moser, H W.: Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. [Review] [79 refs] American Journal of Medical Genetics 23(4): 869-901, Apr 1986.

1985

Belik, J. Anday, E K. Kaplan, F. Zackai, E.: Respiratory complications of metatropic dwarfism. Clinical Pediatrics 24(9): 504-11, Sep 1985.

1984

Steinberg, C. Zackai, E H. Eunpu, D L. Mennuti, M T. Emanuel, B S.: Recurrence rate for de novo 21q21q translocation Down syndrome: a study of 112 families. American Journal of Medical Genetics 17(2): 523-30, Feb 1984.

Long, W S. Mennuti, M T. Emanuel, B S. Zackai, E H.: Prenatal diagnosis of mosaicism 46,XX/46,XX,-21,+t(21q21q). Prenatal Diagnosis 4(1): 73-7, Jan-Feb 1984.

1983

Van Dyke, D C. Zackai, E H. Diamond, G R.: Clinical observation: ocular abnormalities in a patient with Pfeiffer syndrome (acrocephalosyndactyly, type V). Journal of Clinical Dysmorphology 1(4): 2-5, 1983.

Kelley, R I. Borns, P F. Nichols, D. Zackai, E H.: Osteoglophonic dwarfism in two generations. Journal of Medical Genetics 20(6): 436-40, Dec 1983.

Emanuel, B S. Zackai, E H. Tucker, S H.: Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X;9 translocation in a female with DMD. Journal of Medical Genetics 20(6): 461-3, Dec 1983.

Eunpu, D L. Zackai, E H. Mennuti, M T.: Neural tube defects, diabetes, and serum alpha-fetoprotein screening. American Journal of Obstetrics & Gynecology 147(6): 729-30, Nov 15 1983.

1982

Kelley RI, Zackai EH, Mennuti MT, Hickey WF : Treatment of fetal hydrocephalus. N Eng J Med 307: 1211, 1982.

Kelley, R I. Zackai, E H. Emanuel, B S. Kistenmacher, M. Greenberg, F. Punnett, H H.: The association of the DiGeorge anomalad with partial monosomy of chromosome 22. Journal of Pediatrics 101(2): 197-200, Aug 1982.

Kelley, R I. Zackai, E H. Charney, E B.: Congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation: the Schinzel-Giedion syndrome. Journal of Pediatrics 100(6): 943-6, Jun 1982.

1981

Mitchell, J A. Packman, S. Loughman, W D. Fineman, R M. Zackai, E. Patil, S R. Emanual, B. Bartley, J A. Hanson, J W.: Deletions of different segments of the long arm of chromosome 4. American Journal of Medical Genetics 8(1): 73-89, 1981.

Schneider, A S. Mennuti, M T. Zackai, E H.: High cesarean section rate in trisomy 18 births: a potential indication for late prenatal diagnosis. American Journal of Obstetrics & Gynecology 140(4): 367-70, Jun 15 1981.

1980

Zackai, E H. Emanuel, B S.: Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction. American Journal of Medical Genetics 7(4): 507-21, 1980.

1979

Emanuel, B S. Zackai, E H. Van Dyke, D C. Swallow, D M. Allen, F H. Mellman, W J.: Deletion mapping: further evidence for the location of acid phosphatase (ACP1) within 2p23. American Journal of Medical Genetics 4(2): 167-72, 1979.

Emanuel, B S. Zackai, E H. Moreau, L. Coates, P. Orrechio, E.: Interstitial deletion 13q33 resulting from maternal insertional translocation. Clinical Genetics 16(5): 340-6, Nov 1979.

1978

Zackai, E H. Spielman, R S. Mellman, W J. Ames, M. Bodurtha, J.: The risk of neural tube defects to first cousins of affected individuals. UCLA Forum in Medical Sciences 20: 99-102, 1978.

Sprigz, R A. Doughty, R A. Spackman, T J. Murane, M J. Coates, P M. Koldovsky, O. Zackai, E H.: Neonatal presentation of I-cell disease. Journal of Pediatrics 93(6): 954-8, Dec 1978.

Spielman RS, Mennuti MT, Zackai EH, Mellman WJ: Aneuploidy and the older gravida: which risk to quote. Lancet 1: 130-1307, 1978.

Mennuti MT, Zackai EH: Indications for karyotyping amniotic fluid obtained in follow up of elevated maternal serum alphafetoprotein values. In: Proceedings of Neural Tube Defect Symposium-National Foundation/March of Dimes. Haddow, J.E., Marci, J.N., editors. (eds.). The Foundation for Blood Research at Pilot Press, Inc., Portland, ME. 1978.

Emanuel, B S. Zackai, E. Mellman, W J. Aronson, M M. Greene, A E. Coriell, L L.: A (14;20) translocation, unbalanced, from a subject with severe congenital anomalies. Repository identification No. GM-981. Cytogenetics & Cell Genetics 21(3): 173, 1978.

Emanuel, B S. Zackai, E. Mellman, W J. Aronson, M M. Greene, A E. Coriell, L L.: A (14;20) balanced translocation, 46, XX. Repository identification No. GM-982. Cytogenetics & Cell Genetics 21(3): 174, 1978.

Mulivor, R A. Mennuti, M. Zackai, E H. Harris, H.: Prenatal diagnosis of hypophosphatasia; genetic, biochemical, and clinical studies. American Journal of Human Genetics 30(3): 271-82, May 1978.

1977

Zackai, E. Emanuel, B. Mellman, W J. Aronson, M M. Bozarth, B. Greene, A E. Coriell, L L.: Deletion of the short arm of chromosome 2 from a subject with congenital anomalies. Repository identification no. GM-1138. Cytogenetics & Cell Genetics 18(2): 108, 1977.

Emanuel, B. Zackai, E H. Mellman, W J. Aronson, M M. Greene, A E. Coriell, L L.: A culture with a derivative chromosome 10 from a paternal (10;16) translocation. Repository identification no. GM-1396. Cytogenetics & Cell Genetics 19(4): 240, 1977.

Zackai, E.H.: Atlas of the face in genetic disorders Am J Hum Genet. 1977 Nov; 29(6): 645. 29(6): 645, Nov 1977.

1976

Zackai, E H. Moreno-Fuenmayer, H. Mellman, W J. Aronson, M M. Greene, A E. Coriell, L L.: A (10;17) translocation, 46 chromosomes. Repository identification No. GM-959. Cytogenetics & Cell Genetics 17(5): 302-3, 1976.

Emanuel, B S. Zackai, E H. Aronson, M M. Mellman, W J. Moorhead, P S.: Abnormal chromosome 22 and recurrence of trisomy-22 syndrome. Journal of Medical Genetics 13(6): 501-506, Dec 1976.

1975

Zackai, E. Mellman, W. Aronson, M. Miller, R C. Greene, A E. Coriell, L L.: A (10;17) translocation, unbalanced, 46 chromosomes. Repository identification No. GM-217. Cytogenetics & Cell Genetics 14(1): 90-1, 1975.

Zackai, E. Mellman, W. Aronson, M. Miller, R C. Greene, A E. Coriell, L L.: A (10;17) translocation, balanced, 46 chromosomes. Repository identification No. GM-216. Cytogenetics & Cell Genetics 14(1): 88-9, 1975.

Aronson, M. Zackai, E. Mellman, W. Miller, R C. Greene, A E. Coriell, L L.: A (13) terminal deletion, 46 chromosomes. Repository identification no. GM-250. Cytogenetics & Cell Genetics 15(1): 57-8, 1975.

Moreno-Fuenmayor, H. Zackai, E H. Mellman, W J. Aronson, M.: Familial partial trisomy of the long arm of chromosome 10 (q24-26). Pediatrics 56(5): 756-61, Nov 1975.

Zackai, E H. Mellman, W J. Neiderer, B. Hanson, J W.: The fetal trimethadione syndrome. Journal of Pediatrics 87(2): 280-4, Aug 1975.

1974

Moreno HC, Zackai EH, Kaufman HJ, Mellman WJ : Congenital gigantism with skeletal dysplasia - case report 18. In: Syndrome Identification. The National Foundation/March of Dimes. D. Bergsma, editor. (eds.). II(1): 22, 1974.

1973

Zackai, E H. Breg, W R.: Ring chromosome 7 with variable phenotypic expression. Cytogenetics & Cell Genetics 12(1): 40-8, 1973.

1972

Zackai, E H. Sly, W S. McAlister, W G.: Microcephaly, mild mental retardation, short stature, and skeletal anomalies in siblings. American Journal of Diseases of Children 124(1): 111-5, Jul 1972.

Bilchik, R C. Zackai, E H. Smith, M E. Williams, J D.: Anomalies with ring D chromosome. American Journal of Ophthalmology 73(1): 83-9, Jan 1972.

Abstracts

2016

Chung, J.H., Guo, T., McDonald-McGinn, D.M., Zackai, E.J., Silversides, C.K., Cutler, D.J., Zwick, M.E., Warren, S.T., Bassett, A.S., Emanuel, B.S., Morrow, B.E.: : Genes in the noncanonical Wnt signaling pathway serve as genetic modifiers of conotruncal defects in 22q11.2 deletion syndrome. Weinstein Cardiovascular Development and Regeneration Conference, Durham, NC May 19-21 2016.

Emanuel, B.S., Mlynarski, M.B., Sherdan, T., Guo, S., Racedo, D., McDonald-McGinn, M.S., Bowser, M., Xie, M., Gai, X., Perin, J.C., Bassett, A., Chow, E., Blonska, A., Spanske, A., Beemer, F., Devriendt, K., Digilio, M.C., Marino, B., Dallapiccola, B., Higgins, A-M., Philip, N., Simon, T., Coleman, K., Kates, W., Devoto, M., Zackai, E., Shen, T., Ott, J., Heine-Suner, D., Shailk, T., Sprintzen, R., Morrow, B. and the International Chromosome 2211.2 Consortium: : CNVs as Modifiers of the Cardiovascular Phenotype in 22q11.2 Deletion syndrome. 27th Annual Meeting of the German Society of Humangenetics together with Austrian Society of Humangenetics (ÖGH) and the Swiss Society of Medical Genetics. Lübeck, Germany March 16-18 2016.

2015

Yi J, Calkins M, Tang S, Gao L, McDonald-McGinn D, Zackai E, Souders M, Sullivan K, Gur R, Emanuel B, Gur R: Association of immunological disorders to psychopathology and psychotic features in 22q11.2 deletion syndrome. American Academy of Child & Adolescent Psychiatry 62nd Annual Meeting, San Antonia, Texas. Oct 26-31 2015.

Schott A, Valverde K, Kalish JM, Lambert M, Morissett J, Emanuel BS, Zackai EH, McDonald-McGinn DM: Increased Prevalence of Malignancy in Twins with 22q11.2 Deletion Syndrome. American Society of Human Genetics Annual Meeting, Baltimore, Maryland. Oct 6-10 2015.

Tang SX, Moore TM, Calkins ME, Savitt A, Yi JJ,. Kohler CG, Souders MC, Zackai EH, McDonald-McGinn DM, Emanuel BS, Gur RC, Gur RE: Direct comparison of psychosis-proneness between youths with 22q11.2 deletion syndrome and non-deleted controls. Society of Biological Psychiatry, Toronto, Canada. May 16 2015.

Kim DS, Kim JH, Burt AA, Crosslin DR, Burnham N, McDonald-McGinn DM, Zackai EH, Nicolson SC, Spray TL, Stanaway IB, Nickerson DA, Heagerty PJ, Hakonarson H, Jarvik GP, Gaynor JW : Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted long-term survival. American Association for Thoracic Surgery Annual Meeting, Seattle, Washington. Apr 25-29 2015.

Books

Chapters

2016

Haldeman-Englert, C, Saitta SC, Zackai EH: Evaluation of the Dysmorphic Infant. Avery's Disease of the Newborn, 10th Edition. Gleason (eds.). Elsevier, 2016.

Haldeman-Englert C, Saitta SC, Zackai EH: Specific Chromosome Disorders in Newborns. Avery's Disease of the Newborn, 10th Edition. Gleason (eds.). Elsevier, 2016.

2015

McDonald-McGinn DM and Zackai EH: The 22q11.2 Deletion. Comprehensive Cleft Care, 2nd Edition. Losee and Kirschener, Wiley Press, Boca Raton, FL. 2015.

McDonald-McGinn DM and Zackai EH: Prenatal and Genetic Counseling. Comprehensive Cleft Care, 2nd Edition, Losee and Kirschner, Wiley Press, Boca Raton, FL. 2015.

2012

Wenger TL, McDonald-McGinn DM, Zackai EH: Genetics of Common Congenital Syndromes of the Head and Neck. Congenital Malformations of the Head and Neck. Elden L and Zur K (eds.). Springer, 2012.

2003

Gripp KW and Zackai EH: Craniosynostosis Syndromes. In: Management of Genetic Syndromes, Second Edition. Cassidy SB and Allanson JE, eds. (eds.). John Wiley and Sons, Inc., Hoboken, NJ, 2003.

2000

Emanuel BS, Goldmuntz E, Budarf ML, Shaikh T, McGrath J, McDonald-McGinn D, Zackai EH, et al.: Blocks of duplicated sequence define the endpoints of DGS/VCFS 22q11.2. deletions. In: Etiology and Morphogenesis of Congenital Heart Disease: Twenty Years of Progress in Genetics and Developmental Biology. Clark, E.B., Nakazawa, M., Takao, A. (eds.) (eds.). Futura Publishing Co., Armonk, NY, Page: 335-339, 2000.

1998

Zackai EH, Robin NH: Clinical Genetics. In: Pediatric Surgery, Fifth Edition. J.A. O'Neill, Jr. M.I. Rowe, J.L. Grosteld, E.W. Fonkalsrud, and A.G. Coran, editors. (eds.). Mosby-Year Book, Inc. 1998.

1997

Ming, JE, McDonald-McGinn DM, Zackai EH: Application of "New Genetics" to Old Neonatal Problems. In: Gellis & Kagan's Current Pediatric Therapy 16, Edited by F.D. Burg, J.R. Ingelfinger, E.R. Wald, R.A. Polin. (eds.). W.B. Saunders Company. 1997.

1996

Donnenfeld AE, Bergoffen J, Zackai EH, Ming J: Genetics. In: Pediatric Secrets. R.A. Polin, M.F. Ditmar, eds. (eds.). W.B. Saunders. 1996.

1995

Eunpu DL, Zackai EH: Primary Care Pediatrics. Year Book Medical Talking with parents: Down syndrome. Principles & Practice of Clinical Pediatrics. M.W. Schwartz, E.B. Charney, T.A. Curry, S. Ludwig, editors. (eds.). Publishers, Inc. Page: 801-803, 1995.

Eunpu DL, Zackai EH: Talking with parents: Down syndrome. Primary Care Pediatrics. Principles & Practice of Clinical Pediatrics. M.W. Schwartz, E.B. Charney, T.A. Curry, S. Ludwig, editors. (eds.). Year Book Medical Publishers, Inc. Page: 894-896, 1995.

1994

Donnenfeld A, Bergoffen J, Zackai EH: Genetics. In: Pediatric Secrets. Ditmar, M. and Polin, R., eds. (eds.). W.B. Saunders. 1994.

1993

Bergoffen J, Zackai EH: The infant with multiple anomalies. In: Workbook in Practical Neonatology. Yoder, M. and Polin, R., eds. (eds.). W.B. Saunders. 1993.

1990

Donnenfeld AE, Zackai EH, Emanuel BS: Supernumerary der (22) t (11;22). In: Birth Defects Encyclopedia, Fourth Edition. Edited by M.L. Buyse. (eds.). Blackwell Scientific Publications, Page: 394, 1990.

Donnenfeld AE, Zackai EH, Emanuel BS: Chromosome 11, partial trisomy 11q. In: Birth Defects Encyclopedia,Fourth Edition. Edited by M.L. Buyse. (eds.). Blackwell Scientific Publications. Page: 362, 1990.

Donnenfeld AE, Zackai EH: Osteodysplasty. In: Birth Defects Encyclopedia, Fourth Edition, Edited by M.L. Buyse. (eds.). Blackwell Scientific Publications, Page: 1318, 1990.

1989

Donnenfeld AE, Zackai EH: Genetics. In: Pediatric Secrets. R.A. Polin, M.F. Ditmar, editors. (eds.). Page: 121-136, 1989.

1988

Neidich J, Whitaker LA, Natowicz M, McDonald DM, Schnur R, Zackai E: Aglossia with congenital absence of the mandibular rami and other craniofacial abnormalities. In Neural Crest and Craniofacial Disorders: Genetic Aspects. Opitz, J.M., Gorlin, R.J., eds. (eds.). Alan R. Liss, Inc., New York. 1988.

1984

Goldman AS, Zackai EH, Fishman MC, Jaffe SJ: Fetal Trimethadione Syndrome. Alan R. Liss, Teratogen Update Series. 1984.

1982

Zackai EH: Genetic disorders. In: Core Textbook of Pediatrics. R. Kaye, F. Oski, L.A. Barness, editors. (eds.). J.B. Lippincott, Page: 8-23, 1982.

1978

Zackai EH, Mellman WJ: Genetic disorders. In: Core Textbook of Pediatrics. R. Kaye, L. Barness, F. Oski, editors. (eds.). J.B. Lippincott, Page: 10-30, 1978.

1974

Zackai EH, Mellman WJ: Human peripheral blood leukocyte cultures. In: Human Chromosome Methodology. Y. Yunis, editor. (eds.). Academic Press, New York, 2nd edition. 1974.

Posters and Presentations

2016

Keen C, Samango-Sprouse C, Dubbs H, Zackai EH : 10-year-old female with KANSL1 mutation and first reported case of normal intelligence. Presentation, 65th Annual Meeting of the American Society of Human Genetics, Baltimore, MD. October 6-10 2016.

Weinberger R, Yi J, Guri Y, McDonald-McGinn DM, Emanuel BS, Ruparel K, Carmel M, Gur R, Gur RE, Gothelf D: : Neurocognitive profile in psychotic versus nnpsychotic individuals with 22qw11 deletion syndrome. 10th Biennial International 22q11.2 Conference, Sermione, Italy, Platform Presentation July 20-22 2016.

Unolt M, Gaynor W, Crowley B, Sharkus R, Baxter M, Lucas A, Goldmuntz E, Emanuel BS, Zackai EH, Moss E, McDonald-McGinn DM: : Prevalence of congenital heart disease in patients with 22q11.2 deletion syndrome and correlation of CHD severity of full scale IQ scores. 10th Biennial International 22q11.2 Conference, Sermione, Italy, Platform Presentation July 20-22 2016.

Unolt M, Crowley TB, Sharkus R, Lucas AR, Goldmuntz E, Gaynor JW, Huff D, Jacobs I, Zur K, Emanuel BS, Zackai EH, and McDonald-McGinn DM: Mortality associated with 22q11.2 deletion syndrome. 10th Biennial International 22q11.2 Conference, Sermione, Italy, Platform Presentation July 20-22 2016.

Souders MC, McDonald-McGinn DM, Tang S, Maguire MA, Jackson O, Solot C, Elden L, Gur R, Gur R, Emanuel BS, Zackai EH: : High prevalence of sleep disorders in 22q11.2 deletion syndrome. 10th Biennial International 22q11.2 Conference, Sermione, Italy, Platform Presentation July 20-22 2016.

Solot CV, Sharkus R, Crowley TB, Jaskson O, Emanuel B, Zackai E, McDonald-McGinn D: Speech and language development in patients with 22q11.2 deletion syndrome. 10th Biennial International 22q11.2 Conference, Sermione, Italy, Platform Presentation July 20-22 2016.

Solot CB, Sharkus R, Crowley TB, Jackson I, Emanuel B, Zackai E, McDonald-McGinn D: : Speech and language development in 37 patients with 22q11.2 duplication syndrome. 10th Biennial International 22q11.2 Conference, Sermione, Italy, Platform Presentation July 20-22 2016.

Sharkus R, Unolt M, Crowley TB, McGinn DE, Lucas AR, Melchiorre AJ, Emanuel BS, Zackai EH, and McDonald-McGinn DM: : Somatic and germline mosaicism confers and important recurrence risk in 22qw11.2 deletion duplication syndromes. 10th Biennial International 22q11.2 Conference, Sermione, Italy, Platform Presentation July 20-22 2016.

Moss E, Crowley TB, Butcher , Sharkus R, Solot C, Xie HM, Emanuel B, Zackai EH, McDonald-McGinn DM: : Early identification of cognitive and language impairments in children with 22q11.2 deletion syndrome may predict later outcome. 10th Biennial International 22q11.2 Conference, Sermione, Italy, Platform Presentation July 20-22 2016.

Morrow BE, Guo T, Wang T, McDonald-McGinn DM, Kates WR, Coleman K, Hawula W, Zackai E, Emanuel BS: Histone modifier genes alter conotruncal heart phenotypes in 22q11.2 deletion syndrome. 10th Biennial International 22q11.2 Conference, Sermione, Italy, Platform Presentation July 20-22 2016.

McGinn DE, Crowley TB, Sharkus R, Unolt M, Lucas AR, Emanuel BS, Zackai EH, Moss E, and McDonald-McGinn DM: : Maternal origin of familial 22q11.2 deletions negatively impacts FSIQ scores. 10th Biennial International 22q11.2 Conference, Sermione, Italy, Platform Presentation July 20-22 2016.

McDonald-McGinn DM, Crowley TB, Moss E, Katz L, Jackson O, Mascarenhas M, Lambert M, Hopkins S, Emanuel BS, Sullivan KE, Zackai EH: Back to the Future - The Philadelphia Story: Findings in 1305 Patients with 22q11.2 deletion syndrome. 10th Biennial International 22q11.2 Conference, Sermione, Italy, Platform Presentation July 20-22 2016.

Lucads AR, Crowley TB, Sharkus R, Unold M, McGinn DE, Silverman A, Emanuel BS, Zackai EH, Moss E, and McDonald-McGinn DM: : Perinatal outcomes have little influence on FSIQ in children with 22q.11.2 DS. 10th Biennial International 22q11.2 Conference, Sermione, Italy, Platform Presentation July 20-22 2016.

Levitt Katz LE, Crowley TB, Scarano I, Lessig M, Bamba V, Grand K, Zackai EH, Emanuel BS, McDonald-McGinn DM: Hypocalcemia and congenital heart disease in youth with 22q11.2 deletion syndrome. 10th Biennial International 22q11.2 Conference, Sermione, Italy, Platform Presentation July 20-22 2016.

Lambert MP, Kalish JM, Sullivan KE, Crowley TB, Schott A, Valverde K, Morrissett J, Emanuel BS, Zackai EH, McDonald-McGinn DM: Increased prevalence of malignancy in twins with 22q11.2 deletion syndrome. 10th Biennial International 22q11.2 Conference, Sermione, Italy, Platform Presentation July 20-22 2016.

Hopkins SE, Crowley TB, Emanuel B, Zackai E, McDonald-McGinn DM: Imaging and neurologic sequelae in children with 22q11.2 deletion syndrome. 10th Biennial International 22q11.2 Conference, Sermione, Italy, Platform Presentation July 20-22 2016.

Hestand MS, Nowakowska BA, Vergaelen E, Van Houdt J, Dehaspe L, Suhi JA, Del-Favero J, Mortier G, Zackai E, Swillen A, Devriendt K, Gur RE, McDonald-McGinn DM, Warren ST, Emanuel BS, Vermeesch JR: : Sequence based evaluation of the remaining allele in 22q11.2 deletion patients. 10th Biennial International 22q11.2 Conference, Sermione, Italy, Platform Presentation July 20-22 2016.

Gur RE, Yi JJ, Tang SX, Calkins ME, Moore TM, McDonald-McGinn DM, Gothelf D, Weinberger, Zackai EH, Emanuel BS, Gur RE: Neurocognitive performance in 22q11 deletion syndrome measured with a brief computerized battery. 10th Biennial International 22q11.2 Conference, Sermione, Italy, Platform Presentation July 20-22 2016.

Gur RE, Yi JJ, Tang SX, Calkins ME, Moore TM, Kohler CG, McDonald-McGinn DM, Souders MC, Zackai EH, Gur RC, Emanuel BS: Psychosis risk in 22q11.2 deletion syndrome: findings from the Philadelphia sample and implication for IBBC. 10th Biennial International 22q11.2 Conference, Sermione, Italy, Platform Presentation July 20-22 2016.

Grand KL, Levitt Katz LE, Crowley TB, Valverde K, Moss E, Lessig M, Bamba V, Zackai EH, Emanuel B, McDonald-McGinn DM : Hypocalcemia and full scale IQ in 22q11.2 deletion syndrome. 10th Biennial International 22q11.2 Conference, Sermione, Italy, Platform Presentation July 20-22 2016.

Emanuel BS, Franconi CP, Zackai EH, McNamara MA, Salmons IV H, Moss E, Gur RE, McDonald-McGinn DM, Devoto M: IQ and hemizygosity for the Val168Met functional polymorphism of COMT in 22q11DS. 10th Biennial International 22q11.2 Conference, Sermione, Italy, Platform Presentation July 20-22 2016.

Crowley TB, McDonald-McGinn DM, Salmons H, Goldmuntz E, Gaynor E, Zackai EH, Emanuel BS, Katz L, Mascarenhas D, Mascarenhas MR: Understanding gastrointestinal manifestations in 22q11 deletion syndrome. 10th Biennial International 22q11.2 Conference, Sermione, Italy, Platform Presentation July 20-22 2016.

Cohen M, Lulis L, Knightleu C, Crowley TB, Sharkus R, Zackai EH, Emanuel BS, McDonald-McGinn DM: Audiological findings in 22q11.2 deletion syndrome. 10th Biennial International 22q11.2 Conference, Sermione, Italy, Platform Presentation July 20-22 2016.

Juusola J, Copenheaver D, Retterer K, Marth A, Butler E, Deardorff M, Krantz I, Zackai E, Medne L, Bedoukian E, Wilkins A, Lehman A, McKinnon M, Van Allen M, Clarke L, Van Kamebeek C, Niyazov D, Graham J, Kucuk Z, Nalepa G, Willing M, Bernat J, Vats D, Massingham L, Sorrentino S, Stoler J, Chung W, Hamosh A, Slavotinek A, Richard G, Bale S: WES in a week: Rapid exome testing for critical care. Platform presentation, ACMG Annual Clinical Genetics Meeting, Tampa, FL. March 8-12 2016.

Akgumus G, Biegel J, Zackai E, Deardorff M, Conlin L, Fan J, Wertheim G, Mulchandani S, Zelley K, Nichols K, Wilmoth D, Gleason A, Spinner N, Li M, Luo M: Mosaic monosomy 7: A new syndrome with increased risk of hematologic disease. Poster presentation, ACMG Annual Clinical Genetics Meeting, Tampa, FL. March 8-12 2016.

Ahrens-Nicklas R, Zackai E, Deardorff M, Woyciechowski S, Garbarini J, D'Alessandro L, Kahn S, Goldmuntz E : Utility of genetic evaluation in infants with congenital heart defects admitted to the cardiac intensive care unit. Poster presentation, ACMG Annual Clinical Genetics Meeting, Tampa, FL. March 8-12 2016.

2015

Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MRF, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers L, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BWM, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Inness AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, the DDD study, Dijkstra S, Schieving J, Giltay J, van Gassen KLI, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, K. Keating K, Burton BK, Kim KH, Charrow J, J. Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalscheuer V, Mehta SG, Katsanis N, Kleefstra T: Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling. Presentation, 65th Annual Meeting of the American Society of Human Genetics, Baltimore, MD. October 6-10 2015.

Nesbitt AI, Denenberg E, Yu Z, Baker SW, Pechter KB, Dechene E, Dubbs H, Bedoukian E, Wilkens A, Medne L, Ortiz-Gonzalez X, Zackai E, Krantz I, Deardorff M, Santani A : The hunt for rare disease diagnosis: Utilization of social media, model organisms, and pathway analysis in pediatric exome sequencing. Presentation, 65th Annual Meeting of the American Society of Human Genetics, Baltimore, MD. October 6-10 2015.

Lynch DC, Tooley M, Bhoj EJ, Lemire EG, Chodirker BN, Taylor JP, Grange DK, Zackai EH, Kirk EP, Hoover-Fong J, Fleming L, Savarirayan R, Smithson SF, Innes AM, Parboosingh JS, Bernier FP : Cerebro-costo-mandicular syndrome revisited: Phenotype and outcome of twenty molecularly confirmed individuals. Presentation, 65th Annual Meeting of the American Society of Human Genetics, Baltimore, MD. October 6-10 2015.

Li D, Bhoj EJ, Tian L, Harr MH, Dubbs HA, Hou C, Kim CE, Mentch FD, Chiavacci R, McCormick E, Falk MJ, Zackai EH, Hakonarson H : De novo mutations in novel histone and epigenetic regulator genes cause multiple genetic syndromes. Presentation, 65th Annual Meeting of the American Society of Human Genetics, Baltimore, MD. October 6-10 2015.

Copenheaver D, Juusola J, Retterer K, Vitazka P, Gibellini F, Marth A, Butler E, Deardorff M, Zackai E, Bedoukian E, Wilkens A, Medne L, Lehman A, Niyazov D, Graham J, Kucuk Zy, Nalepa G, Griffin C, Willing M, Bernat J, Vats D, Massingham L, Poduri A, Chung W, Richard G, Bale S : Clinical rapid whole exome sequencing experience. Presentation, 65th Annual Meeting of the American Society of Human Genetics, Baltimore, MD. October 6-10 2015.

Bhoj EJ, Li D, Harr MH, Tian L, Wang T, Zhao Y, Qiu H, Mentch F, Kim C, Zackai EH, Hakonarson H : Novel gene discovery across a large cohort of patients with syndromic craniofacial anomalies. Presentation, 65th Annual Meeting of the American Society of Human Genetics, Baltimore, MD. October 6-10 2015.

McDonald-McGinn DM, Wenger T, DiCairano L, Schlechtweg K, Grand K, Krajewski A, McGinn D, Schultz R, Emanuel B, Zackai EH: 22q11.2 duplication syndrome - another important CNV window into understanding behavioral phenotypes. Platform Presentation, The Society of the Study of Behavioral Phenotypes 18th International Research Symposium, London, United Kingdom. Sep 3-5 2015.

McDonald-McGinn DM, Skraban C, Whitaker L, Zackai EH, Bartlett SP: Crouzon syndrome + acanthosis nigricans: an important identifiable cause of craniosynostosis prior to derm changes. Platform Presentation, The International Society of Craniofacial Surgery 16th International Congress, Tokyo Bay Area, Japan. Sep 14-18 2015.

Zackai EH, Harr MH, Deardorff MA : Of meis and men: MEIS2 plays an integral role in palate, cardiac and brain development. Presentation, 36th David W. Smith Workshop on Malformations and Morphogenesis, St. Michaels, Maryland. Aug 14-19 2015.

Reynoso FJ, Horton Harr M, Kesewa A, Kalish J, Li D, Hakonarson H, Book K, Burton BK, Bucher J, He M, Zackai EH : Expanding the phenotype of patients with PIGN mutations. Three unrelated patients presenting with hypotonia, intractable seizures and congenital anomalies. Presentation, 36th David W. Smith Workshop on Malformations and Morphogenesis, St. Michaels, Maryland. Aug 14-19 2015.

Pyle LC, Taylor JA, Javia LR, Zackai EH: Infant of diabetic mother with complete tracheal rings: New report and review of the literature. Presentation, 36th David W. Smith Workshop on Malformations and Morphogenesis, St. Michaels, Maryland. Aug 14-19 2015.

Krantz I, Noon S, Edmondson A, Kaur M, Zackai E, Zhang Z, Shirahige K, Izumi K: CHOPS syndrome: A novel genetic disorder of cognitive impairment, heart defects, obesity, pulmonary involvement and short stature with skeletal dysplasia. Presentation, 36th David W. Smith Workshop on Malformations and Morphogenesis, St. Michaels, Maryland. Aug 14-19 2015.

Bhoj E, Li D, Harr M, Tan L, Hoffman J, Hakonarson H, Zackai E: Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome. Presentation, 36th David W. Smith Workshop on Malformations and Morphogenesis, St. Michaels, Maryland. Aug 14-19 2015.

Wenger TL, Miller J, DePolo LM, de Marchena A, Emanuel B, Zackai EH, McDonald-McGinn DM, Schultz RT: High rate of autism spectrum disorder and need for prospective medical screening in 22q11.2 duplication syndrome. Presentation, ACMG Annual Clinical Genetics Meeting, Salt Lake City, Utah. Mar 24-28 2015.

McDonald-McGinn DM, Kevriendt K, DiCairano L, Digilio MC, Emanuel B, Fernandez L, Garcia-Minaur S, Krajewski A, Marino B, McGinn DE, Racedo S, Smith K, Swillen A, Bassett AS, Morrow B, Zackai EH: The perplexing prevalence of familial nested 22q11.2 deletions. Presentation, ACMG Annual Clinical Genetics Meeting, Salt Lake City, Utah. Mar 24-28 2015.

Gripp KW, Robbins KM, Sobreira N, Witmer PD, Bird LM, Avela K, Makitie O, Alves D, Hogue JS, Zackai EH, Doheny KF, Stabley D, Sol-Church K: Lateral meningocele syndrome is caused by truncating mutations in the last exon of NOTCH3 and has a recognizable facial phenotype. Presentation, ACMG Annual Clinical Genetics Meeting, Salt Lake City, Utah. Mar 24-28 2015.

Fan J, Mulchandani S, Gleason AG, Mascioli KJ, Shafiq M, Dipatri D, Skorski ML, Lewis-Bunch L, Szymanski A, Zackai EH, Luo M, Spinner N, Conlin L: Submicroscopic genomic imbalance at breakpoints of apparently balanced reciprocal chromosomal translocations. Presentation, ACMG Annual Clinical Genetics Meeting, Salt Lake City, Utah. Mar 24-28 2015.

Bhoj E, Matthijs G, Van-Dyck M, Li, D, Hakonarson H, Zackai EH, Schrier Vergano SA: Hardikar syndrome, a rare syndrome of cleft lip/palate, and urogenital abnormalities, may result from variants in myelin gene regulatory factor. Presentation, ACMG Annual Clinical Genetics Meeting, Salt Lake City, Utah. Mar 24-28 2015.

2015, Richard D. Wood Distinguished Alumni Award, Outstanding Alumna of the Year, The Children's Hospital of Philadelphia

2007, Master Clinician Award presented by the Department of Pediatrics, The Children's Hospital of Philadelphia

2003, Recipient of the Letitia and Alice Scott Endowed Chair in Genetics and Molecular Biology

2002, Received Blockley-Osler Award presented by the Blockley Section of the College of Physicians for excellence in teaching clinical medicine at the bedside in the tradition of Sir William Osler and other who taught at Philadelphia General Hospital

1996, Named "Alumni of the Year" by Alpha Omega Alpha, New York University School of Medicine

1991, Fellow College of Physicians, Philadelphia, PA

1968, Alpha Omega Alpha, Alumni Key Pin (Outstanding Woman Graduate Medical School)

1964, Phi Beta Kappa, Josephine P. McTavish Medal (Highest Achievement Pre-Med), Sigma Pi Sigma Prize in Physics, Magna Cum Laude, B.A., Honors in Biology

Academic and Institutional Committees

2006-present, Clinical Affairs Committee

2000-present, Academic Review Committee

1999-present, Fetal Therapy Advisory Committee

1998-present, Medical Ethics Sub-Committee on Genetic Testing

1997-present, Pediatric Fellowship Executive Committee

1984-present, Medical Library Committee

Memberships in Professional Organizations

American Cleft Palate-Craniofacial Association

American College of Medical Genetics

American Society of Human Genetics

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