Donna M. McDonald-McGinn, MS, CGC

Donna M. McDonald-McGinn, MS, CGC

Donna M. McDonald-McGinn, MS, CGC, is Chief of the Section of Genetic Counseling,Director of the 22q and You Center and Associate Director of Clinical Genetics Center at Children's Hospital of Philadelphia.

Areas of Expertise: Educating medical professionals and the public, Participation in clinical research, especially as it pertains to diagnoses involving cleft palate and craniofacial disorders, Providing appropriate genetic counseling to patients and their families
Locations: Main Campus
Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)

Education and Training

Additional Training

MS, Human Genetics, Sarah Lawrence College

Board Certification

Genetic Counseling
Certified Genetic Counselor (CGC)

Undergraduate Degree

BA in Biology and Sociology - Rosemont College, Bryn Mawr, PA

Graduate Degree

MS in Human Genetics - Sarah Lawrence College, Bronxville, NY

Titles and Academic Titles

Chief, Section of Genetic Counseling

Director, 22q and You Center

Associate Director, Clinical Genetics Center

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

Departments and Services

Publications

Papers

2017

Edmondson AC, Bedoukian EC, Deardorff MA, McDonald-McGinn DM, Li X, He M, Zackai EH. A human case of SLC35A3-related skeletal dysplasia. Am J Med Genet A. 2017 Aug 4. doi: 10.1002/ajmg.a.38374. [Epub ahead of print]

Gur RE, Bassett AS, McDonald-McGinn DM, Bearden CE, Chow E, Emanuel BS, Owen M, Swillen A, Van den Bree M, Vermeesch J, Vorstman JAS, Warren S, Lehner T, Morrow B. A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium. Mol Psychiatry. 2017 Aug 1. doi: 10.1038/mp.2017.161. [Epub ahead of print]

Bassett AS, Lowther C, Merico D, Costain G, Chow EWC, van Amelsvoort T, et al. Schizophrenia in 22q11.2 Deletion Syndrome. Am J Psychiatry. 2017 Jul 28:appiajp201716121417. doi: 10.1176/appi.ajp.2017.16121417. [Epub ahead of print]

Tang SX, Moore TM, Calkins ME, Yi JJ, McDonald-McGinn DM, Zackai EH, Emanuel BS, Gur RC, Gur RE. Emergent, remitted and persistent psychosis-spectrum symptoms in 22q11.2 deletion syndrome. Transl Psychiatry. 2017 Jul 25;7(7):e1180. doi: 10.1038/tp.2017.157.

Barry JC, Crowley TB, Jyonouchi S, Heimall J, Zackai EH, Sullivan KE, McDonald-McGinn DM. Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency. J Clin Immunol. 2017 Jul;37(5):476-485. doi: 10.1007/s10875-017-0403-9. Epub 2017 May 24.

Schultz AH, Ittenbach RF, Gerdes M, Jarvik GP, wernovsky G, Bernbaum J, Solot C, Clancy RR, Nicolson SC, Spray TL, McDonald-McGinn D, Zackai E, Gaynor JW. Effect of congenital heart disease on 4-year neurodevelopment within multiple-gestation births. J Thorac Cardiovasc Surg. 2017 Jul;154(1):273-281.e2. doi: 10.1016/j.jtcvs.2017.02.022. Epub 2017 Feb 21.

Tang SX, Moore TM, Calkins ME, Yi JJ, Savitt A, Kohler CG, Souders MC, Zackai EH, McDonald-McGinn DM, Emanuel BS, Gur RC, Gur RE. The Psychosis Spectrum in 22q11.2 Deletion Syndrome Is Comparable to That of Nondeleted Youths. Biol Psychiatry. 2017 Jul 1;82(1):17-25. doi: 10.1016/j.biopsych.2016.08.034. Epub 2016 Sep 8.

Sacca R, Zur KB, Crowley TB, Zackai EH, Valverde KD, McDonald-McGinn DM. Association of airway abnormalities with 22q11.2 deletion syndrome. Int J Pediatr Otorhinolaryngol. 2017 May;96:11-14. doi: 10.1016/j.ijporl.2017.02.012. Epub 2017 Feb 21.

Kolman SE, Ohara SY, Bhatia A, Feygin T, Colo D, Baldwin KD, McDonald-McGinn DM, Spiegel DA. The clinical utility of flexion-extension cervical spine MRI in 22q11.2 deletion syndrome. J Pediatr Orthop. 2017 Apr 24. doi: 10.1097/BPO.0000000000000994. [Epub ahead of print]

Kruszka P, Addissie Y, McGinn D, Porras A, Biggs E, Share M, et al. 22q11.2 deletion syndrome in diverse populations. Am J Med Genet A. 2017 Apr;173(4):879-888. doi: 10.1002/ajmg.a.38199.

Bean Jaworski JL, Flynn T, Burnhamn N, Chittams JL, Sammarco T, Gerdes M, Bernbaum JC, Clancy RR, Solot CB, Zackai EH, McDonald-McGinn DM, Gaynor JW. Rates of autism and potential risk factors in children with congenital heart defects. Congenit Heart Dis. 2017 Jul;12(4):421-429. doi: 10.1111/chd.12461. Epub 2017 Mar 16.

Weisman O, Guri Y, Gur RE, McDonald-McGinn DM, Calkins ME, Tang SX, Emanuel B, Zackai EH, Eliez S, Schneider M, Scaer M, Kates WR, Antshel KM, Fremont W, Shashi V, Hooper SR, Armando M, Vicari S, Pontillo M, Kushan L, Jalbrzikowski M, Bearden CE, Niendam TA, van den Bree MBM, Gothelf D, International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome. Subthreshold psychosis in 22q11.2 deletion syndrome: multisite naturalistic study. Schizophr Bull. 2017 Feb 13. doi: 10.1093/schbul/sbx005. [Epub ahead of print]

Lopez-Rivera E, Liu YP, Verbitsky M, Anderson BR, Capone VP, Otto EA, et al. Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. N Engl J Med. 2017 Feb 23;376(8):742-754. doi: 10.1056/NEJMoa1609009. Epub 2017 Jan 25.

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. doi: 10.1002/ajmg.a.37980. Epub 2016 Sep 28.

Dugoff L, Mennuti MT, McDonald-McGinn DM. The benefits and limitations of cell-free DNA screening for 22q11.2 deletion syndrome. Prenat Diagn. 2017 Jan;37(1):53-60. doi: 10.1002/pd.4864. Epub 2016 Jul 25.

Wenger TL, Dahl J, Bhoj E, Rosen A, McDonald-McGinn D, Zackai E, Jacobs I, Heike CL, Hing A, Inglis AF, Sie KC, Cunningham M, Perkins J. Tracheal cartilaginous sleeves in children with syndromic craniosynostosis. Genet Med. 2017 Jan;19(1):62-68. doi: 10.1038/gim.2016.60. Epub 2016 May 26.

2016

Hestand MS, Nowakowska BA, Vergaelen E, Van Houdt J, Dehaspe L, Suhl JA, Del-Favero J, Mortier G, Zackai E, Swillen A, Devriendt K, Gur RE, McDonald-McGinn DM, Warren ST, Emanuel BS, Vermeesch JR. (2016). A catalog of hemizygous variation in 127 22q11 deletion syndrome patients. Hum Genome Var. Jan 14; 3: 15065. PMCID: PMC4892188

Wenger TL, Kao C, McDonald-McGinn DM, Zackai EH, Bailey A, Schultz RT, Morrow BE, Emanuel BS, Hakonarson H. (2016). The role of mGluR copy number variation in genetic and environmental forms of syndromic autism spectrum disorder. Sci Rep. Jan 19; 6: 19372. PMCID: PMC4726047

Gross SJ, Stosic M, McDonald-McGinn DM, Bassett AS, Norvez A, Dhamankar R, Kobara K, Kirkizlar E, Zimmermann B, Wayham N, Babiarz JE, Ryan A, Jinnett KN, Demko Z, Benn P. (2016). Clinical Experience with Single-Nucleotide Polymorphism-Based Noninvasive Prenatal Screening for 22q11.2 Deletion Syndrome. Ultrasound Obstet Gynecol. Feb; 47(2): 177-183. PCMID: PMC26396068

Mlynarski EE, Xie M, Taylor D, Sheridan MB, Guo T, Racedo SE, McDonald-McGinn DM, Chow EW, 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-Suñer D, Goldmuntz E, Bassett AS, Morrow BE, Emanuel BS. (2016). Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome. Hum Genet. Mar; 135(3): 273-85. PMCID: PMC4896312

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

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. (2016). 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 Thorac Cardiovasc Surg Apr; 151(4): 1147-51. PMCID: PMC4801686

Wenger TL, Miller JS, DePolo LM, de Marchena AB, Clements CC, Emanuel BS, Zackai EH, McDonald-McGinn DM, Schultz RT. (2016). 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening. Mol Autism May; 7: 27. PMID: PMC4859984

Sullivan KE, Burrows E, McDonald-McGinn DM. (2016). Healthcare utilization in chromosome 22q11.2 deletion patients with cardiac disease and low T cell counts. Am J Med Genet. A. Jun; 170(6): 1630-4.

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

Fenwick AL, Kliszczak M, Cooper F, Murray J, Sanchez-Pulido L, Twigg SRF, 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 MJV, Koopmans M, McDonald-McGinn DM, Santen GWE, Savarirayan R, de Silva D, Vanakker O, Wall SA, Wilson LC, Yuregir OO, Zackai EH, Ponting CP, Jackson AP, Wilkie AOM, Niedzwiedz W, Bicknell LS. (2016). Mutations in CDC45, encoding an esstential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostrosis. Am J Hum Genet. Jul 7; 99(1): 125-38. PMCID: PMC5005452

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

Schmitt JE, Yi J, Calkins ME, Ruparel K, Roalf DR, Cassidy A, Souders MC, Satterthwaite TD, McDonald-McGinn DM, Zackai EH, Gur RC, Emanuel BS, Gur RE. (2016). Disrupted anatomic networks in the 22q11.2 deletion syndrome. Neuroimage Clin. Aug 25; 12: 420-428. PMCID: PMC5008050

Weinberger R, Yi J, Calkins M, Guri Y, McDonald-McGinn DM, Emanuel BS, Zackai EH, Ruparel K, Carmel M, Michaelovsky E, Weizman A, Gur RC, Gur RE, Gothelf D. (2016). Neurocognitive profile in psychotic versus nonpsychotic individuals with 22q11.2 deletion syndrome. Eur Neuropsychopharmacol. Oct; 26(10): 1610-8.

Mekori-Domachevsky E, Guri Y, Weisman O, Calkins ME, Tang SX, Gross R, McDonald-McGinn DM, Emanuel BS, Zackai EH, Zalsman G, Weizman A, Gur RC, Gur RE, Gothelf D. (2016). Negative subthreshold psychotic symptoms distinguish 22q11.2 deletion syndrome from other neurodevelopmental disorders: A two site study. Schizophr Res. Dec 29. [e-pub ahead of print].

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 (2015) 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 Feb; 52(2): 104-110. PMCID: PMC4393015

Racedo SE, McDonald-McGinn D, Chung JH, Goldmuntz E, Zackai E, Emanuel BS, Zhou B, Funke B, Morrow BE (2015) Mouse and Human CRKL is Dosage Sensitive for Cardiac Outflow Tract Formation. Am J Hum Genet Feb 5; 96(2):235-244. PMCID: PMC: 2063919

Stransky C, Basta M, McDonald-McGinn DM, Solot CB, Drummond D, Zackai E, Larossa D, Kirschner R, Jackson O (2015) Perioperative risk factors in patients with 22q11.2 deletion syndrome requiring surgery for velopharyngeal dysfunction. Cleft Palate Craniofac J Mar; 52(2): 183-91. PMID: 24805875

Vorstman JA, Breetvelt EJ, Duijff SN, Eliez S, Schneider M, Jalbrzikowski M, Armando M, Vicari S, Shashi V, Hooper SR, Chow EW, Fung WL, Butcher NJ, Young DA, McDonald-McGinn DM, Vogels A, van Amelsvoort T, Gothelf D, Weinberger R, Weizman A, Klaassen PW, Koops S, Kates

WR, Antshel KM, Simon TJ, Ousley OY, Swillen A, Gur RE, Bearden CE, Kahn RS, Bassett AS; for the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome (2015) A cognitive decline precedes the onset of psychosis in patients with the 22q11.2 deletion syndrome. JAMA Psychiatry Apr 1; 72(4): 377-385. PMCID: PMC4383767

Wenger TL, Bhoj E, Wetmore RF, Mennuti MT, Bartlett SP, Mollen TJ, McDonald-Mcginn DM, Zackai EH (2015) Beare-Stevenson syndrome: two new patients, including a novel finding of tracheal cartilaginous sleeve. Am J Med Genet A. Apr; 167A(4): 852-7. PMID: 25706251

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 (2015) Copy-number variation of the glucose transporter gene SLC2A3 and congenital heart defects in the 22q11.2 deletion syndrome. Am J Hum Genet May 7; 96(5): 753-764. PMID: 25892112

Swillen A, McDonald-McGinn DM (2015). Developmental trajectories in 22q11 deletion. Am J Hum Genet C Semin Med Genet Jun; 169(2): 172-181. PMID: 25989227

Tahiri Y, Bastidas N, McDonald-McGinn DM, Birgfeld C, Zackai EH, Taylor J, Bartlett SP (2015) New pattern of sutural synostosis associated with TWIST gene mutation and Saethre-Chotzen syndrome: peace sign synostosis. J Craniofac Surg Jul; 26(5): 1564-7.

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 (2015) Aberrant cortical morphometry in the 22q11.2 deletion syndrome. Biol Psychiatry Jul 15; 78(2): 135-43.

Fung WL, Butcher NJ, Costain G, Andrade DM, Boot E, Chow EW, Chung B, Cytrynbaum C, Faghfoury H, Fishman L, García-Miñaúr S, George S, Lang AE, Repetto G, Shugar A, Silversides C, Swillen A, van Amelsvoort T, McDonald-McGinn DM, Bassett AS (2015) Practical guidelines for managing adults with 22q11.2 deletion syndrome. Genet Med. Aug; 17(8): 599–609. PMCID: PMC4526275

Yi J, Calkins M, Tang S, Kohler C, McDonald-McGinn DM, Zackai EH, Savitt AP, Bilker WB, Whinna DA, Souders MC, Emanuel BS, Gur RC, Gur RE. (2015). Impact of psychiatric comorbidity and cognitive deficit on function in 22q11.2 deletion syndrome. J Clin Psychiatry Oct; 76(10): e1262-70.

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. (2015). 22q11.2 deletion syndrome. Nat Rev Dis Primers Nov 19; 1: 15071. PMCID: PMC4900471

Guo T, Chung JH, Wang T, McDonald-McGinn DM, Coleman K, Zackai EH, Emanuel BS, Morrow BE. (2015) Histone modifier genes alter conotruncal heart phenotypes in 22q11.2 deletion syndrome. Am J Hum Genet Dec 3; 97(6): 869-877. PMCID: PMC4678435

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.  Journal of the American Academy of Child and Adolescent Psychiatry 53(9): 991-1000, 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.  American Journal of Psychiatry  171(16): 627-539, 2014.

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.  American Journal of Medical Genetics 161A(12): 3012-3017, 2014.

Gaynor JW, Ittenbach RF, Gerdes M, Bernbaum J, Clancy RR, McDonald-McGinn DM, Zackai E, Wernovsky G, Nicolson SC, Spray TL: Neurodevelopmental outcomes in preschool survivors of the Fontan procedure.  The Journal of Thoracic and Cardiovascular Surgery 147(4): 1276-1283. e5, 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.  2(73): S130-5, Dec  2014.

Schmitt JE, 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 Rediologic Findings in the 22q11.2 Deletion Sydndrome.  American Journal of Neuroradiology  3511: 2186-2191, Nov-Dec 2014.

Gur R E, Yi JJ, McDonald-McGinn DM, Tang SX, Calkins ME, Whinna D, Souders MC, Savitt A, Zackai EH, Mober 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): 1205-1211, November 2014.

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.  164A(10): 2557-2566, October 21 2014.

Kennedy WP, Mudd PA, Maguire MA, 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. International Journal of Pediatric Otorhinolaryngology  78(8): 1360-1364, Aug 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.   The Annals of Thoracic Sugery 98(1): 104-111, July 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. Psychological Medicine  44(6): 1267-1277, 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 Neuropsychiatr Genet Part B  165B(2): 137-147, March 28-31 2014.

2013

Pasick C, McDonald-McGinn DM, Simbolon C, Low D, Zackai E, Jackson O : Asymmetric Crying Facies in the 22q11. 2 Deletion Syndrome Implications for Future Screening.  Clinical Pediatrics  52(12): 1144-1148, 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.: Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes. American Journal of Human Genetics 92(3): 439-47, 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  5(4): 235-245, 2013.

Bhoj, Elizabeth; Halbach, Sara; McDonald-McGinn, Donna; Tan, Christopher; Lande, Rachel;Waggoner, Darrel; Zackai, Elaine: 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. American Journal of Medical Genetics  Part A(161): 2327-2333, 2013.

McDonald-McGinn Donna M, Fahiminiya Somayyeh, Revil Timothée, Nowakowska Beata A, Suhl Joshua, Bailey Alice, Mlynarski Elisabeth, Lynch David R, Yan Albert C, Bilaniuk Larissa T, Sullivan Kathleen E, Warren Stephen T, Emanuel Beverly S, Vermeesch Joris R, Zackai Elaine H, Jerome-Majewska Loydie A: Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS. Journal of Medical Genetics 50(2): 80-90, Feb 2013.

Widdershoven Josine C C, Bowser Mark, Sheridan Molly B, McDonald-McGinn Donna M, Zackai Elaine H, Solot Cynthia B, Kirschner Richard E, Beemer Frits A, Morrow Bernice E, Devoto Marcella, Emanuel Beverly S: A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients. International journal of Pediatric Otorhinolaryngology 77(1): 123-7, Jan 2013.

2012

Herman, S.B., Guo, T., McDonald-McGinn, D.,  Blonska, A.,  Shanske, A.L., Bassett, A.S., Chow, E.W.C., Bowser, M.,  Sheridan, M., Beemer, F., Devriendt,, K., Swillen. A,, Breckpot, J., Digilio, M.C., Marino, B., Dallapiccola, B., Carpenter, C., Zheng, X., Johnson, J., Chung, J., Higgins, A.M.,  Philip, N.,  Simon, T., Coleman, K., Heine-Suner, D., Rosell, J., Kates, W., Devoto, M., Zackai, E., Wang, T., Shprintzen, R., Emanuel, B., Morrow, B.E. and the International Chromosome 22q11.2 Consortium: : Overt cleft palate phenotye and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Am J Med Genet  158A(11): 2781-87, Nov 2012.

Habel A., McGinn M.-J., Zackai, E.,, Unanue, N., McDonald-McGinn D.M.: Syndrome-specific growth charts for 22q11.2 deletion syndrome in Caucasian children. American journal of medical genetics. Part A 158A(11): 2665-71, Nov 2012.

Heimall J, Keller M, Saltzman R, Bunin N, McDonald-McGinn D, Zackai E, de Villartay J-P, 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. Journal of clinical immunology 32(5): 1141-4, Oct 2012.

Goldenberg P.C., Calkins M.E., Richard, J., McDonald-McGinn D., Zackai, E., Mitra N., Emanuel, B., Devoto, M., Borgmann-Winter, K., Kohler, C., Conroy, C.G., Gur R.C., Gur, R.E.: Computerized neurocognitive profile in young people with 22q11.2 deletion syndrome compared to youths with schizophrenia and at-risk for psychosis. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 159B(1): 87-93, Jan 2012.

2011

Jawad, A.F., Prak, E.L., Boyer, J., McDonald-McGinn, D.M., Zackai, E., McDonald, K.,, Sullivan, K.E.: A prospective study of influenza vaccination and a comparison of immunologic parameters in children and adults with chromosome 22q11.2 deletion syndrome (digeorge syndrome/velocardiofacial syndrome). Journal of clinical immunology 31(6): 927-35, Dec 2011.

Guo, T., McDonald-McGinn, D., Blonska, A., Shanske, A., Bassett, A.S., Chow, E., Bowser, M., Sheridan, M., Beemer, F.,, Devriendt, K., Swillen, A., Breckpot, J., Digilio, M.C., Marino, B., Dallapiccola, B., Carpenter, C., Zheng, X., Johnson, J., Chung, J., Higgins, A.M., Philip, N., Simon T.J., Coleman, K., Heine-Suner, D., Rosell, J., Kates, W., Devoto, M., Goldmuntz, E., Zackai, E., Wang, T., Shprintzen, R., Emanuel, B., Morrow, B.: Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Human Mutation 32(11): 1278-89, Nov 2011.

Bassett Anne S, McDonald-McGinn Donna M, Devriendt Koen, Digilio Maria Cristina, Goldenberg Paula, Habel Alex, Marino Bruno, Oskarsdottir Solveig, Philip Nicole, Sullivan Kathleen, Swillen Ann, Vorstman Jacob: Practical guidelines for managing patients with 22q11.2 deletion syndrome. The Journal of pediatrics 159(2): 332-9.e1, Aug 2011.

McDonald-McGinn Donna M, Sullivan Kathleen E: Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine 90(1): 1-18, Jan 2011.

2010

Gaynor J William, Gerdes Marsha, Nord Alex S, Bernbaum Judy, Zackai Elaine, Wernovsky Gil, Clancy Robert R, Heagerty Patrick J, Solot Cynthia B, McDonald-McGinn Donna, Jarvik Gail P: Is cardiac diagnosis a predictor of neurodevelopmental outcome after cardiac surgery in infancy? The Journal of thoracic and cardiovascular surgery 140(6): 1230-7, Dec 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). Clinical immunology (Orlando, Fla.) 136(3): 409-18, Sep 2010.

McDonald-McGinn Donna M, Feret Holly, Nah Hyun-Duck, Bartlett Scott P, Whitaker Linton A, Zackai Elaine H: Metopic craniosynostosis due to mutations in GLI3: A novel association. American journal of medical genetics. Part A 152A(7): 1654-60, Jul 2010.

Girirajan Santhosh, Rosenfeld Jill A, Cooper Gregory M, Antonacci Francesca, Siswara Priscillia, Itsara Andy, Vives Laura, Walsh Tom, McCarthy Shane E, Baker Carl, Mefford Heather C, Kidd Jeffrey M, Browning Sharon R, Browning Brian L, Dickel Diane E, Levy Deborah L, Ballif Blake C, Platky Kathryn, Farber Darren M, Gowans Gordon C, Wetherbee Jessica J, Asamoah Alexander, Weaver David D, Mark Paul R, Dickerson Jennifer, Garg Bhuwan P, Ellingwood Sara A, Smith Rosemarie, Banks Valerie C, Smith Wendy, McDonald Marie T, Hoo Joe J, French Beatrice N, Hudson Cindy, Johnson John P, Ozmore Jillian R, Moeschler John B, Surti Urvashi, Escobar Luis F, El-Khechen Dima, Gorski Jerome L, Kussmann Jennifer, Salbert Bonnie, Lacassie Yves, Biser Alisha, McDonald-McGinn Donna M, Zackai Elaine H, Deardorff Matthew A, Shaikh Tamim H, Haan Eric, Friend Kathryn L, Fichera Marco, Romano Corrado, Gécz Jozef, DeLisi Lynn E, Sebat Jonathan, King Mary-Claire, Shaffer Lisa G, Eichler Evan E: A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nature genetics 42(3): 203-9, Mar 2010.

2009

Jolin Edith M, Weller Ronald A, Jessani Naushad R, Zackai Elaine H, McDonald-McGinn Donna M, Weller Elizabeth B: Affective disorders and other psychiatric diagnoses in children and adolescents with 22q11.2 Deletion Syndrome. Journal of affective disorders 119(1-3): 177-80, Dec 2009.

Foo Roy, Guo Yifan, McDonald-McGinn Donna M, Zackai Elaine H, Whitaker Linton A, Bartlett Scott P: The natural history of patients treated for TWIST1-confirmed Saethre-Chotzen syndrome. Plastic and reconstructive surgery 124(6): 2085-95, Dec 2009.

Haldeman-Englert Chad R, Gai Xiaowu, Perin Juan Carlos, Ciano Melissa, Halbach Sara S, Geiger Elizabeth A, McDonald-McGinn Donna M, Hakonarson Hakon, Zackai Elaine H, Shaikh Tamim H: A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay. European journal of medical genetics 52(4): 265-8, Jul-Aug 2009.

Stankiewicz Paweł, Sen Partha, Bhatt Samarth S, Storer Mekayla, Xia Zhilian, Bejjani Bassem A, Ou Zhishuo, Wiszniewska Joanna, Driscoll Daniel J, Maisenbacher Melissa K, Bolivar Juan, Bauer Mislen, Zackai Elaine H, McDonald-McGinn Donna, Nowaczyk Małgorzata M J, Murray Mitzi, Hustead Virginia, Mascotti Kristin, Schultz Regina, Hallam Lavinia, McRae Duncan, Nicholson Andrew G, Newbury Robert, Durham-O'Donnell Jane, Knight Gail, Kini Usha, Shaikh Tamim H, Martin Vicki, Tyreman Matthew, Simonic Ingrid, Willatt Lionel, Paterson Joan, Mehta Sarju, Rajan Diana, Fitzgerald Tomas, Gribble Susan, Prigmore Elena, Patel Ankita, Shaffer Lisa G, Carter Nigel P, Cheung Sau Wai, Langston Claire, Shaw-Smith Charles: Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. American journal of human genetics 84(6): 780-91, Jun 2009.

Lacbawan F, Solomon B D, Roessler E, El-Jaick K, Domené S, Vélez J I, Zhou N, Hadley D, Balog J Z, Long R, Fryer A, Smith W, Omar S, McLean S D, Clarkson K, Lichty A, Clegg N J, Delgado M R, Levey E, Stashinko E, Potocki L, Vanallen M I, Clayton-Smith J, Donnai D, Bianchi D W, Juliusson P B, Njølstad P R, Brunner H G, Carey J C, Hehr U, Müsebeck J, Wieacker P F, Postra A, Hennekam R C M, van den Boogaard M-J H, van Haeringen A, Paulussen A, Herbergs J, Schrander-Stumpel C T R M, Janecke A R, Chitayat D, Hahn J, McDonald-McGinn D M, Zackai E H, Dobyns W B, Muenke M: Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. Journal of medical genetics 46(6): 389-98, Jun 2009.

Jyonouchi Soma, McDonald-McGinn Donna M, Bale Sherri, Zackai Elaine H, Sullivan Kathleen E: CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features. Pediatrics 123(5): e871-7, May 2009.

John Anitha S, McDonald-McGinn Donna M, Zackai Elaine H, Goldmuntz Elizabeth: Aortic root dilation in patients with 22q11.2 deletion syndrome. American journal of medical genetics. Part A 149A(5): 939-42, May 2009.

Coppinger Justine, McDonald-McGinn Donna, Zackai Elaine, Shane Kate, Atkin Joan F, Asamoah Alexander, Leland Robert, Weaver David D, Lansky-Shafer Susan, Schmidt Karen, Feldman Heidi, Cohen William, Phalin Judy, Powell Berkley, Ballif Blake C, Theisen Aaron, Geiger Elizabeth, Haldeman-Englert Chad, Shaikh Tamim H, Saitta Sulagna, Bejjani Bassem A, Shaffer Lisa G: Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region. Human molecular genetics 18(8): 1377-83, Apr 2009.

Goldmuntz Elizabeth, Driscoll Deborah A, Emanuel Beverly S, McDonald-McGinn Donna, Mei Minghua, Zackai Elaine, Mitchell Laura E: Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome. Birth defects research. Part A, Clinical and molecular teratology 85(2): 125-9, Feb 2009.

Bearden Carrie E, van Erp Theo G M, Dutton Rebecca A, Lee Agatha D, Simon Tony J, Cannon Tyrone D, Emanuel Beverly S, McDonald-McGinn Donna, Zackai Elaine H, Thompson Paul M: Alterations in midline cortical thickness and gyrification patterns mapped in children with 22q11.2 deletions. Cerebral cortex (New York, N.Y. : 1991) 19(1): 115-26, Jan 2009.

2008

McDonald-McGinn Donna M, Zackai Elaine H: Genetic counseling for the 22q11.2 deletion. Developmental disabilities research reviews 14(1): 69-74, 2008.

Selber Jesse, Reid Russell R, Chike-Obi Chuma J, Sutton Leslie N, Zackai Elaine H, McDonald-McGinn Donna, Sonnad Seema S, Whitaker Linton A, Bartlett Scott P: The changing epidemiologic spectrum of single-suture synostoses. Plastic and reconstructive surgery 122(2): 527-33, Aug 2008.

Lin Angela E, Basson Craig T, Goldmuntz Elizabeth, Magoulas Pilar L, McDermott Deborah A, McDonald-McGinn Donna M, McPherson Elspeth, Morris Colleen A, Noonan Jacqueline, Nowak Catherine, Pierpont Mary Ella, Pyeritz Reed E, Rope Alan F, Zackai Elaine, Pober Barbara R: Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management. Genetics in medicine : official journal of the American College of Medical Genetics 10(7): 469-94, Jul 2008.

Dobyns William B, Mirzaa Ghayda, Christian Susan L, Petras Kristin, Roseberry Jessica, Clark Gary D, Curry Cynthia J R, McDonald-McGinn Donna, Medne Livija, Zackai Elaine, Parsons Julie, Zand Dina J, Hisama Fuki M, Walsh Christopher A, Leventer Richard J, Martin Christa L, Gajecka Marzena, Shaffer Lisa G: Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. American journal of medical genetics. Part A 146A(13): 1637-54, Jul 2008.

Kapadia Chirag R, Kim Yuran E, McDonald-McGinn Donna M, Zackai Elaine H, Katz Lorraine E Levitt: Parathyroid hormone reserve in 22q11.2 deletion syndrome. Genetics in medicine : official journal of the American College of Medical Genetics 10(3): 224-8, 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 and 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, Brailey Lisa L, 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.

Simon T J, Takarae Y, DeBoer T, McDonald-McGinn D M, Zackai E H, Ross J L: Overlapping numerical cognition impairments in children with chromosome 22q11.2 deletion or Turner syndromes. Neuropsychologia 46(1): 82-94, 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.

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 143A(24): 3204-15, Dec 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 : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and 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 2007.

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 : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and 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 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 : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 10(5): 435-44, Oct 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. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 43(4): 446-56, 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. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 43(4): 435-41, Jul 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 2006.

McDonald-McGinn Donna M, Reilly Anne, Wallgren-Pettersson Carina, Hoyme H Eugene, Yang Samuel P, Adam Margaret P, Zackai Elaine H, Sullivan Kathleen E: Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). American journal of medical genetics. Part A 140(8): 906-9, Apr 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. The Journal of thoracic and 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. Development and 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. The Journal of thoracic and cardiovascular surgery 130(6): 1511-6, Dec 2005.

Fine Sarah E, Weissman Alison, Gerdes Marsha, Pinto-Martin Jennifer, Zackai Elaine H, McDonald-McGinn Donna M, Emanuel Beverly S: Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome. Journal of autism and developmental disorders 35(4): 461-70, Aug 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 and immunology : official publication of the European Society of Pediatric Allergy and Immunology 16(3): 226-30, May 2005.

Simon TJ, Bearden CE, McGinn DM, Zackai E: Visuospatial and numerical cognitive deficits in children with chromosome 22q11.2 deletion syndrome. Cortex 41(2): 145-55, April 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 2005.

Simon Tony J, Ding Lijun, Bish Joel P, McDonald-McGinn Donna M, Zackai Elaine H, Gee James: Volumetric, connective, and morphologic changes in the brains of children with chromosome 22q11.2 deletion syndrome: an integrative study. NeuroImage 25(1): 169-80, Mar 2005.

Bearden Carrie E, Jawad Abbas F, Lynch David R, Monterossso John R, Sokol Set, 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 COMT genotype on behavioral symptomatology in the 22q11.2 Deletion Syndrome. Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence 11(1): 109-17, Feb 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. Developmental science 8(1): 36-43, Jan 2005.

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.

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. The American journal of psychiatry 161(9): 1700-2, Sep 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. The Journal of bone and joint surgery. American volume 86-A(8): 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 129A(1): 29-34, Aug 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. American journal of medical genetics. Part A 126A(3): 261-6, Apr 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 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 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 124A(3): 313-7, Jan 2004.

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. The Journal of thoracic and 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. American journal of medical genetics. Part A 123A(1): 84-90, Nov 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.

Lawrence Scott, McDonald-McGinn Donna M, Zackai Elaine, Sullivan Kathleen E: Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome. The Journal of pediatrics 143(2): 277-8, Aug 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? The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 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. The Journal of Urology 168(6): 2564-5, Dec 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 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. Nature genetics 32(2): 285-9, 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 and diagnostic laboratory immunology 9(5): 1129-31, Sep 2002.

Simon TJ, Bearden CE, Moss ED, McDonald McGinn D, Zackai E, Wang PP: Cognitive development in VCFS. Prog in Pediatr Cardiol 15(2): 109-17, August 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, 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 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.

Jawad A F, McDonald-Mcginn D M, Zackai E, Sullivan K E: Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). The Journal of pediatrics 139(5): 715-23, 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 and experimental neuropsychology 23(4): 447-64, Aug 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 2001.

McElhinney D B, Clark B J, 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 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 : official journal of the American College of Medical Genetics 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 : Official journal of the American College of Medical Genetics 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 : Official journal of the American College of Medical Genetics 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 : official journal of the American College of Medical Genetics 3(1): 40-4, Jan-Feb 2001.

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. The Journal of pediatrics 137(2): 158-64, Aug 2000.

Solot C B, Knightly C, Handler S D, Gerdes M, McDonald-McGinn D M, Moss E, Wang P, Cohen M, Randall P, Larossa D, Driscoll D A: Communication disorders in the 22Q11.2 microdeletion syndrome. Journal of Communication Disorders 33(3): 187-203; quiz 203-4, May-Jun 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 2000.

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 (Geneva, Switzerland) 10(1): 11-24, 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 and diagnostic laboratory immunology 6(6): 906-11, Nov 1999.

Gerdes M, Solot C, Wang P P, Moss E, LaRossa D, Randall P, Goldmuntz E, Clark B J, 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 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. The Journal of pediatrics 134(2): 193-8, Feb 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 1999.

1998

Bingham P M, Lynch D, McDonald-McGinn D, Zackai E: Polymicrogyria in chromosome 22 delection syndrome. Neurology 51(5): 1500-2, Nov 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. Journal of the American College of Cardiology 32(2): 492-8, Aug 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 and 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. The 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 and immunopathology 86(2): 141-6, Feb 1998.

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, 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.

Keenan GF, Sullivan KE, McDonald-McGinn DM, Zackai EH: Arthritis associated with deletion 22q11.2: more common than previously suspected. Am J Med Genet 71(4): 488, 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 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 and experimental neurology 56(10): 1147-57, Oct 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 1997.

McDonald-McGinn D M, Driscoll D A, Emanuel B S, Goldmuntz E, Clark B J, 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.

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 and rheumatism 40(3): 430-6, Mar 1997.

Muenke M, Gripp K W, McDonald-McGinn D M, Gaudenz K, Whitaker L A, Bartlett S P, Markowitz R I, Robin N H, Nwokoro N, Mulvihill J J, Losken H W, Mulliken J B, Guttmacher A E, Wilroy R S, Clarke L A, Hollway G, Adès L C, Haan E A, Mulley J C, Cohen M M, Bellus G A, Francomano C A, Moloney D M, Wall S A, Wilkie A O: A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. American Journal of Human Genetics 60(3): 555-64, Mar 1997.

Wright T J, Ricke D O, Denison K, Abmayr S, Cotter P D, Hirschhorn K, Keinänen 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.

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.

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

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 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 1995.

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.

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. The 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.

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 1993

Reid C S, McMorrow L E, McDonald-McGinn D M, Grace K J, Ramos F J, Zackai E H, Cohen M M, Jabs E W: Saethre-Chotzen syndrome with familial translocation at chromosome 7p22. American journal of medical genetics 47(5): 637-9, Oct 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: 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 and strabismus 30(5): 337-9, Sep-Oct 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 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. Journal of the American Academy of Dermatology 28(2 Pt 2): 364-70, Feb 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

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: Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. American journal of medical genetics 44(2): 261-8, Sep 1992.

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 1991.

1990

Muenke M, McDonald DM, Cronister A, Stewart JM, Gorlin RJ, Zackai EH : Oral-facial-digital syndrome type VI (Varadi syndrome):  further clinical delineation.  Am J Med Genet  35(3): 360-369, 1990.

Kronwith SD, Quinn G, McDonald DM, Cardonick E, Onyx P, LaRossa D, Borns P, Stambolian DE, Zackai EH: Stickler syndrome in the cleft palate clinic.   J Pediatr Ophthal and Strabismus  27(5): 265-267, 1990.

1988

Neidich JA, Whitaker L, Natowitz M, McDonald DM, Schnur R, Zackai EH: Aglossia with congenital absence of the mandibular rami and other craniofacial abnormalities.   Am J Med Genet  4: 161-166, 1988.

1987

Donnenfeld AE, Zackai EH, McDonald DM, Aquino R, Emanuel BS: Denovo 2q+ masquerading as Smith-Lemli-Opitz syndrome.   Am J Med Genet  24(7): 436-439, 1987.

1986

Eunpu DL, McDonald DM, Zackai EH: Trisomy 21:  rate in second-degree relatives.   Am J Med Genet 25(2): 361-363, 1986.

Abstracts

2016

Wenger T, Dahl J, Bhoj E, McDonald-McGinn DM, Zackai EH, Santani A, Hing A, Hopper R, Cunningham M, Perkins J. : Tracheal cartilaginous sleeves in syndromic craniosynostosis.  David W. Smith Workshop,Lake Arrowhead, California. September 2016.

Skraban C, Bhoj E, Li D, Hakonarson H, McDonald-McGinn DM, Unolt M, Lund ICB, Vergano S, Zackai EH: Rare Syndromic Causes of Congenital Diaphragmatic Hernia: Merely the tip of the neural 'crest'? David W. Smith Workshop, Lake Arrowhead, California September  2016.

Chung JH, Guo T, McDonald-McGinn DM, Zackai EH, Silverides CK, Cutler DJ, Zwick ME, Warrem ST, Bassett AS, Emanuel BS, Morrow BE.: Genes in the noncanonical Wnt signaling pathway serve as genetic modifiers of conotruncal defects in 22q11.2 deletion syndrome. Weinstrein Cardiovascular Development and Regeneration Conference, Durham, North Carolina May 2016.

Emanuel BS, Mlynarski MB, Sherdan T, Guo S, Racedo D, McDonald-McGinn DM, Bowser M, Xie M, Gai X, Bassett A, Chow E, Blonska A, Spanske A, Beemer F, Devriendt K, Digilio MC, Marino B, Dallapiccola B, Higgins AM, Philip N, Simon T, Coleman K, Kates W, Devoto M, Zackai EH, Shen T, Ott J, Heine-Sunar D, Shailk T, Spintzen R, Morrow B, and the International Chromosome 22q11.2 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 (OGH) and the Swiss Society of Medical Genetics, Lubeck, Germany March 2016.

Books

2003

McDonald-McGinn DM, Finucane B, Zackai EH (2000) Faces of Sunshine: The 22q11.2 Deletion: A Handbook for Parents & Professionals.

Chapters
2016

Butcher NJ, Boot E, Loo JCY, McDonald-McGinn DM, Bassett AS, Fung WLA (2015) “22q11.2 Deletion Syndrome” in A Comprehensive Guide to Intellectual and Developmental Disabilities , 2nd edition. Brooks Publishing Co., 2016.

Morrow, BE, McDonald-McGinn, DM, Emanuel, BS. (2016). “The 22q11.2 Deletion Syndrome and TBX1” in Epstein’s Inborn Errors of Development the Molecular Basis of Clinical Disorders of Morphogenesis. Third Edition. Oxford Monographs on Medical Genetics.

2015

Basset A, McDonald-McGinn DM (2015) “22q11.2 Deletion Syndrome” in Five-Minute Pediatric Consult, 7th Edition. Lippincott Williams and Wilkins, eds. Michael Cabana. TRD. May 1, 2015.
McDonald-McGinn DM and Zackai EH (2015) “The 22q11.2 Deletion” in Comprehensive Cleft Care, 2nd Edition. Losee and Kirschener, Wiley Press, Boca Raton, FL.

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

2014

Sullivan KE and McDonald-McGinn DM (2014) DiGeorge Syndrome: A Serendipitous Discovery In: Primary Immunodeficiency Disorders Elsevier, Amsterdam, Netherlands

McDonald-McGinn DM (2014) Primary Immunodeficiency Disorders, a Historic and Scientific Perspective, eds. Etzioni & Ochs. 229-240. November 3, 2014.

2009

McDonald-McGinn DM and Zackai EH (2009) 22q11.2 deletion syndrome. In: Management of Genetic Syndromes, Third Edition. Cassidy SB and Allanson JE, eds. John Wiley and Sons, Inc., Hoboken, NJ

2008

McDonald-McGinn DM and Zackai, EHZ (2008) “The 22q11.2 Deletion” in Comprehensive Cleft Care, Losee and Kirschner, eds. Wiley Press, Boca Raton, FL.

McDonald-McGinn DM, Matthews, M, Driscoll, D (2008) “Prenatal and Genetic Counseling” in Comprehensive Cleft Care, Losee and Kirschner, Wiley Press, Boca Raton, FL.

McDonald-McGinn DM and Zackai EH (2008) Genetic counseling for the 22q11.2 deletion. Developmental Disabilities Research Reviews 14:69-74.

2005

McDonald-McGinn DM and Zackai EH (2005) “Genetic Counseling” in Velo-Cardio-Facial Syndrome A Model for Understanding Microdeletion Disorders, Murphy and Scambler, eds. Cambridge University Press, Cambridge, UK.

2003

McDonald-McGinn DM and Zackai EH (2003) Genetic Counseling. Eds: Murphy K and Scambler P. Velocardiofacial syndrome.

1998

Neidich J, Whitaker LA, Natowitz M, McDonald DM, Schnur R, Zackai E (1988) 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. Alan R. Liss, Inc., New York.

1997

Ming, JE, McDonald-McGinn DM, Zackai EH (1997) 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. W.B. Saunders Company.

1993

Emanuel BS, Driscoll D, Goldmuntz E, Baldwin S, Biegel J, Zackai EH, McDonald-McGinn D, Sellinger B, Gorman N, Williams S, Budarf ML (1993) Molecular and phenotypic analysis of the chromosome 22 microdeletion syndromes. In: The Phenotypic Mapping of Down Syndrome and Other Aneuploid Conditions, Edited by C.J. Epstein. Wiley-Liss, Inc.

Posters and Presentations

2016

McDonald-McGinn DM, Crowley BT, Unolt M, Grand K, McGinn D, Moss E, Katz L, Goldmuntz E, Emanuel ES, Zackai EH. : Common medical comorbidities have no impact on cognitive or behavioral outcome in children with 22q11.2 deletion syndrome. Poster presentation, The American Society of Human Genetics, Vancouver, BC October 2016.

McDonald-McGinn DM, Crowley BT, Unolt M, Grand K, McGinn D, Moss E, Katz L, Goldmuntz E, Emanuel ES, Zackai EH. : Common medical comorbidities have no impact on cognitive and/or behavioral outcomes in children with 22q11.2 deletion syndrome. Poster presentation, The Society for the Study of Behavioural Phenotypes, Siena, Italy. September 2016.

Wootton G, McDonald-McGinn DM, Morrow B, Zackai EH, Binenbaum G, Forbes FJ : Ocular findings associated with chromosome 22q11.2 duplication. Poster presentation, The 10th Biennial International 22q11.2 Conference, Sirmione, Italy. July 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 nonpsychotic individuals with 22q11 deletion syndrome. Poster presentation. The 10th Biennial International 22q11.2 Conference, Sirmione, Italy July 2016.

Unolt M, Gaynor JW, Crowley TB, 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 with full scale IQ scores.   Platform presentation, The 10th Biennial International 22q11.2 Conference, Sirmione, Italy. July 2016.

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

Unolt M, Barry J, Digilio MC, Marino B, Bassett AS, Oechlin E, Low D, Belasco J, Kallish S, Sullivan KE, Zackai EH, McDonald-McGinn DM.: Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome.   Poster presentation, The 10th Biennial International 22q11.2 Conference, Sirmione, Italy. July 2016.

Tomita-Mitchell A, Berger S, McDonald-McGinn DM, Mitchell M. : Early diagnosis of 22q11.2DS can decrease morbidity and likely mortality- a plea for universal newborn screening. Platform presentation, The 10th Biennial International 22q11.2 Conference, Sirmione, Italy. July 2016.

Sullivan KE, Crowley TB, Goldmuntz E, McDonald-McGinn DM.: T cell lymphopenia and cardiac anomalies in 22q11.2DS. Platform presentation. The 10th Biennial International 22q11.2 Conference, Sirmione, Italy. July 2016.

Sullivan KE, Burrows E, McDonald-McGinn DM. : Healthcare cost analysis of patients with 22q11.2DS. Platform presentation. The 10th Biennial International 22q11.2 Conference, Sirmione, Italy.  July 2016.

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

Solot CB, Sharkus R, Crowley TB, Jackson O, Emanuel B, Zackai E, McDonald-McGinn DM.: Speech and language development in patients with 22q11.2 deletion syndrome. Platform presentation, The 10th Biennial International 22q11.2 Conference, Sirmione, Italy July 2016.

Solot CB, Sharkus R, Crowley TB, Jackson O, Emanuel B, Zackai E, McDonald-McGinn DM.: Speech and language development in 37 patients with 22q11.2 duplication syndrome. Platform presentation, The 10th Biennial International 22q11.2 Conference, Sirmione, Italy. July 2016.

Sharkus R, Unolt M, Crowley TB, McGinn DE, Lucas AR, Melchiorre AJ, Emanuel VS, Zackai EH, McDonald-McGinn DM : Somatic and germline mosaicism confers an important recurrence risk in 22q11.2 deletion and duplication syndromes. Poster presentation, The 10th Biennial International 22q11.2 Conference, Sirmione, Italy.  July 2016.

Schindewolf EM, Coleman B, Khalek N, Johnson MP, Crowley TB, Zackai E, McDonald-McGinn DM, Moldenhauer JS : Prenatal sonographic findings and perinatal outcomes in a cohort of confirmed 22q11.2 deletion patients. Platform presentation, The 10th Biennial International 22q11.2 Conference, Sirmione, Italy. July 2016.

Saitta SC, Fox M, Wong D, Lee H, Dorrani N, Nelson S, Pierson T, Tavyev J, Zackai EH, McDonald-McGinn DM, Dipple K. : Use of exome sequencing in chromosome 22q deletion syndrome in patients with atypical phenotypic features.  Poster presentation. The 10th Biennial International 22q11.2 Conference, Sirmione, Italy.  July 2016.

Sacca R, Zur KB, Valverde K, McDonald-McGinn DM: Association of airway abnormalities with 22q11.2 deletion syndrome. Platform presentation. The 10th Biennial International 22q11.2 Conference, Sirmione, Italy.  July 2016.

Palmer LD, Butcher NJ, Heung T, Guna A, Ogura L, Boot E, Crowley TB, Zackai E, McDonald-McGinn D, Bassett AS : 22q11.2 deletion syndrome:  Elucidating the diagnostic odyssey. Platform presentation, The 10th Biennial International 22q11.2 Conference, Sirmione, Italy. July 2016.

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

Maguire MA, Jackson OA, Ierardi K, Vietze C, Solot C, McDonald-McGinn DM: Application of practical guidelines for managing patients with 22q11.2 deletion syndrome in a pediatric surgical specialty practice.  Poster presentation. The 10th Biennial International 22q11.2 Conference, Sirmione, Italy.  July 2016.

Lucas AR, Crowley TB, Sharkus R, Unolt M, McGinn DE, Silverman A, Emanuel BS, Zackai EH, Moss E, McDonald-McGinn DM : Perinatal outcomes have little influence on FSIQ in children with 22q11.2DS. Poster presentation, The 10th Biennial International 22q11.2 Conference, Sirmione, Italy. July 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.  Platform presentation, The 10th Biennial International 22q11.2 Conference, Sirmione, Italy. July 2016.

Lambert MP, Moldenhauer JS, Friedman D, Crowley TB, Jobes D, Zackai E, McDonald-McGinn DM : The frequency of transfusion during surgery for congenital heart disease in patients with 22q11.2 deletion. Platform presentation, The 10th Biennial International 22q11.2 Conference, Sirmione, Italy. July 2016.

Kallish S, Unolt M, Crowley TB, Zackai EH, McDonald-McGinn DM: Healthcare transitions from pediatrics to the adult medical setting for patients with 22q11.2 deletion syndrome.   Platform presentation, The 10th Biennial International 22q11.2 Conference, Sirmione, Italy.  July 2016.

Jackson, OA, Chang, B, Ivanova K, Solot C, Maguire MA, McDonald-McGinn DM, Souders M, Elden L: Polysomnographic screening of patients with 22q11.2 deletion syndrome before and after posterior pharyngeal flap surgery for velopharngeal dysfunction.  Platform presentation. The 10th Biennial International 22q11.2 Conference, Sirmione, Italy.  July 2016.

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

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

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

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

Duijff S, Members of the IBBC-Junior: IBBC-Junior: The International Brain Behavior Consortium on 22q11DS for 0-8 year olds. Platform presentation. The 10th Biennial International 22q11.2 Conference, Sirmione, Italy.  July 2016 Notes: Member of IBBC Junior.

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

Crowley TB, Garcia-Minaur S, McDonald-McGinn DM: The death of paper charts: underscoring the necessity for a 22q11.2DS worldwide registry. Poster presentation. The 10th Biennial International 22q11.2 Conference, Sirmione, Italy. July 2016.

Cohen M, Lulis L, Knightley C, Crowley TB, Sharkus R, Zackai EH, Emanuel BS, McDonald-McGinn DM : Audiologic findings in 22q11.2 deletion syndrome. Platform presentation, The 10th Biennial International 22q11.2 Conference, Sirmione, Italy. July  2016.

Barry JC, Crowley TB, Jyonouchi S, Heimall J, Zackai EH, Sullivan KE, McDonald-McGinn DM : Identification of the 22q11.2 deletion syndrome via abnormal newborn screening for SCID. Platform presentation, The 10th Biennial International 22q11.2 Conference, Sirmione, Italy July 2016.

Fox M, Wong D, Lee H, Dorrani N, Nelson S, Pierson T, Tavyev J, Zackai E, McDonald-McGinn D, Dipple K. : Use of Exome Sequencing in Chromosome 22q Deletion Syndrome in Patients with Atypical Phenotypic Features. Poster presentation. American College of Medical Genetics and Genomics, Tampa, Florida March 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.  Platform Presentation, American Academy of child & Adolescent Psychiatry 62nd Annual Meeting October 26 - 31, San Antonia, TX. 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.  Platform Presentation, Society of Biological Psychiatry May 16, Toronto, Canada 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. Poster, American Society of Human Genetics Annual Meeting, October 6-10, Baltimore, MD.  2015.

Racedo SE, McDonald-McGinn DM, Chung J, Bailey A, Meyer N, Goldmuntz E, Zhou B, Zackai EH, Emanuel BS, Funke B, Morrow BE : Mouse and Human CRKL is Dosage Sensitive for Heart Morphogenesis. Platform Presentation, The 9th Biennial International 22q11.2 Deletion Syndrome Meeting, June 19-21, Mallorca, Balearic Islands, Spain. 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. Platform Presentation, American Association for Thoracic Surgery Annual Meeting, April 25-29, Seattle, WA. 2015.

Guo T, Chung J, McDonald-Mcginn D, Kates W, Wang T, Emanuel B, Morrow B (: Identification of Second-hit Mutatins in known CHDs Causative genes in 22q11DS Patients with Conotruncal Heart Defects by Whole Exome Sequencing. Poster, American Society of Human Genetics Annual Meeting October 6 - 10, Baltimore, MD. 2015.

Racedo S, McDonald-McGinn D, Chung J, Guo T, Goldmuntz E, Emanuel B, Morrow B : TBX1 and CRKL define two critical regions required for heart development on chromosome 22q11.2.  Platform Presentation, Society For Developmental Biology, Northeast Regional Meeting April 10-12, Woods Hole, MA. 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, UK. September 3-5 2015.

McDonald-McGinn DM, Skraban C, Whitaker L, Zackai EH,: 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. September 14-18 2015.

Guo T, Chung J, McDonald-McGinn DM, Goldmuntz E, Bassett AS, Swillen A, Repetto G, Emanuel BS, Morrow BW, International Chromosome 22q11.2 Consortium: Second Hit Genetic Modifiers in Known Congenetial Heart Defects Loci Identified byGenome Wide Association in 22q11DS Patients. Poster, Weinstein Conference, Boston, MA.  May 1 2015.

Chung JH, Guo T, McDonald-McGinn DM, Silversides CK, Cutler DJ, Zwick ME, Warren ST, Bassett AS, Emanuel BS, Morrow BW : Genes in the noncanonical Wnt signaling pathway serve as genetic modifiers of conotruncal defects in 22q11.2 deletion syndrome.  Poster, Weinstein Conference, Boston, MA.  May 1 2015.

Lectures by Invitation

2017

McDonald DM. “Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome.” Invited Presentation, American Cleft Palate-Craniofacial Association 74th Annual Meeting, Colorado Springs, CO, March 13-18, 2017.

2016

McDonald DM. “Professional Development” Invited Presentation, Arcadia Genetic Counseling Panel Discussion, Glenside, PA, December 5, 2016

McDonald DM. “How To Set Up A 22q11.2DS Multidisciplinary Clinic in Hong Kong” Panel Discussion, Two Day Workshop on 22q11.2 Deletion Syndrome, Hong Kong, China, December 1-2, 2016.

McDonald DM. “22q11.1 Deletion Syndrome As A Model for Understanding Common Illness With Potential For Translational Research” Invited Presentation, Two Day Workshop on 22q11.2 Deletion Syndrome, Hong Kong, China, December 1-2, 2016.

McDonald DM. “A Tiny Piece- The 22q11.2 Deletion Syndrome A Comprenhensive Overview Talk” Invited Presentation, Two Day Workshop on 22q11.2 Deletion Syndrome, Hong Kong, China, December 1-2, 2016.

McDonald DM. “Practical Guidelines for Managing Patients With 22q11.2 Deletion Syndrome” Invited Presentation, American Speech-Language-Hearing Association Annual Convention, Philadelphia, PA, November 17, 2016.

McDonald DM. “22q: Prenatal Clues and Commercial Data Review” Vendor-Sponsored Presentations, National Society of Genetic Counselors, Seattle, Washington, September 28-October 1, 2016.

McDonald DM. “The 22q11.2 Deletion Syndrome” Keynote Speaker, The Fred Burke Guest Lecture at The Joint Irish Paediatric Association/ Irish & American Paediatric Society Annual Meeting, Dublin, Ireland, September 24, 2016.

McDonald DM. “22q11.2 Deletion Syndrome- The CHOP Approach to Providing Care to Children” Invited Presentation, 22q Ireland Family Meeting, Dublin, Ireland, September 23, 2016.

McDonald DM. “22q and You Center at The Children’s Hospital of Philadelphia- A Model for Multidisciplinary Care” Invited Presentation, Our Lady’s Children Hospital, Crumlin, Ireland, September 22, 2016.

McDonald DM. “From DiGeorge Syndrome to 22q11.2DS” Keynote Address, 22q11.2 Caregiver’s Meeting, Sirmione, Italy, July 22-23, 2016.

McDonald DM. “Caring for patients with 22q11.2 duplications and distal 22q11.2 deletions in the setting of a 22q11.2 clinic”, The 10th Biennial International 22q11.2 Conference, Platform Presentation, Sirmione, Italy, July 20-22, 2016

McDonald DM. “Back to the Future- The Philadelphia Story: Findings in 1305 patients with the 22q11.2 deletion syndrome”, The 10th Biennial International 22q11.2 Conference, Platform Presentation, Sirmione, Italy, July 20-22, 2016

McDonald DM. “The Impact of Genetics on Neurodevelopmental Outcome – Neruodevelopmental Outcome in Children with CHD Due to a Chromosome 22q11.2 Deletion”, 5th Annual Cardiac Neruodevelopmental Symposium, The Children’s Hospital of Philadelphia, Philadelphia, PA, June 2-3, 2016

McDonald DM. “22q11.2 Deletion Syndrome”- Pediatric Grand Rounds, Invited Presentation, Children’s Hospital of Richmond at Virginia Commonwealth University, Richmond, VA, March 1, 2016.

2015

McDonald DM. “Identification of Second-hit Mutations in Known CHDs Causative genes in 22q11.2DS Patients with Conotruncal Heart Defects by Whole-exome Sequencing”-4th Annual Isabelle Rapin Conference on Communitcation Disorders: 22q11.2, Invited Presentation, Albert Einstein College of Medicine, Bronx, NY, December 2-4, 2015.

McDonald DM. “Identification of Second-hit Mutations in Known CHDs Causative genes in 22q11.2DS Patients with Conotruncal Heart Defects by Whole-exome Sequencing”-4th Annual Isabelle Rapin Conference on Communitcation Disorders: 22q11.2, Invited Presentation, Albert Einstein College of Medicine, Bronx, NY, December 2-4, 2015.

McDonald DM. “The 22q11.2 Deletion Syndrome- From DiGeorge Syndrome to VCFS to CTAF- An Etiological Journey”- Invited Presentation, 22q Heart Club, Tokyo, Japan, September 20, 2015.

McDonald DM. “The 22q11.2 Deletion Syndrome-A Review” – Cardiology Grand Rounds, Children’s Hospital at Montefiore and the Albert Einstein College of Medicine, Bronx, NY, July 20, 2015.

McDonald DM. “Contemporary Counseling for the Most Common Microdeletion: 22q11.2”, International Society for Prenatal Diagnosis, Washington, DC, USA, July 14, 2015.

McDonald DM. “22q11.2 Setting the Stage – What are the 22q11.2 Deletion and Duplicaiton Syndromes? Hoes Does a Deletion or Duplication Happen? What is the Chance that the Duplicaiton or Deletion will Happen Again?”- Keynote Speaker, International Brain Behavior Consortium Meeting, Philadephia, PA, June 29-30, 2015.

McDonald DM. “Why, When, and How Clefting and Craniofacial Conditions Occur: a Review of the Basic Genetics Related to Oral-Facial Conditions” – Temple University Cleft-Craniofacial Speech Course, Philadelphia, PA, June 5, 2015.

McDonald DM. “What’s new with 22q” – Update on Fetal Diagnosis and Treatment, Philadelphia, PA, May 14, 2015

McDonald DM. “What’s New in 22q?” – 2015 Update in Fetal Diagnosis and Treatment CME Review Course, Philadelphia, PA, May 14, 2015

McDonald DM. “22q11.2DS – Potentail Benefits Associated with Prenatal Detection” – Society for Maternal Fetal Medicine, San Diego, CA, USA, March 2, 2015.

McDonald DM. “Deletions, Duplications and Atypicals”, 17th Society for the Study of Behavioral Phenotypes Research Symposium, New York, New York, October, 21, 2014.

Awards and Honors

2012, The Angelo DiGeorge Memorial Medal of Honor, The 8th Biennial International 22q11.2 Deletion Syndrome Conference

2007, The Dean's Award for Excellence in Medical Student Teaching by an Allied Health Care Professional, The University of Pennsylvania School of Medicine

Editorial and Academic Positions

Reviewer

2016-present, Nature Index
2015-present, Journal of Neonatal-Perinatal Medicine
2015-present, Italian Journal of Pediatrics
2014-present, International Journal of Padeiatric Otolarnygology
2011-present, Prenatal Diagnosis
2011-present, Journal of Pediatric Hematology/Oncology
2009-present, European Journal of Human Genetics
2008-present, Journal of Pediatrics
2004-present, Pediatrics
2000-present, Genetics in Medicine
2000-present, Genetic Counseling
2000-present, Journal of Neonatal Biology
1995-present, Journal of Medical Genetics
1987-present, Cleft Palate and Craniofacial Journal

Leadership and Memberships

Memberships in Professional Organizations

International

2006-present, The International 22q11.2 DS Foundation, Inc., Founding Board Member
2003-present, The International 22q11.2 Foundation, Inc., Founding Board Member

National

2013-present, The 22q11.2 Society, Founding Member
 - 2013-present, Secretary 
 - 2013-present, Board Member
 - 2013-present, Education Committee
2008-present, Research Committee American Cleft Palate and Craniofacial Association
2004-present, American Cleft Palate and Craniofacial Association
 - 2008-present, Research Committee
 - 2004-present, Membership Committee
1985-present, Society for the Study of Behavioral Phenotypes
1985-present, National Society of Genetic Counselors
1985-present, American College of Medical Genetics
1985-present, American Society of Human Genetics
1985-present, American Craniofacial Society