Beverly S. Emanuel, PhD

Beverly S. Emanuel, PhD

Beverly S. Emanuel, PhD, is former Chief of the Division of Human Genetics at Children's Hospital of Philadelphia. She holds the Charles E.H. Upham Endowed Chair in Pediatric Medicine, University/CHOP Chair.

Areas of Expertise: High-resolution mapping of chromosome 22 and its several disease-related rearrangements, Non-random chromosomal abnormalities of both the inherited (syndrome-associated) and acquired (tumor-associated) types
Locations: Main Campus
Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)

Education and Training

Fellowship

Postdoctoral Fellow - Department of Human Genetics, University of Pennsylvania, Philadelphia, PA

Additional Training

Research Associate - Joseph Stokes Jr. Research Institute, Children's Hospital of Philadelphia, Philadelphia, PA

Board Certification

Medical Genetics
Clinical Cytogenetics

Graduate Degree

PhD in Microbiology - University of Pennsylvania, Philadelphia, PA

Titles and Academic Titles

Former Chief, Division of Human Genetics

Charles E.H. Upham Endowed Chair in Pediatric Medicine, University/CHOP Chair

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

Departments and Services

Publications

Papers

2017

Niarchou, M., Moore, T.M., Tang, S.X., Calkins, M.E., McDonald-McGinn, D.M., Zackai, E.H., Emanuel, B.S., Gur, R.C., Gur, R.E.: The dimensional structure of psychopathology in 22q11.2 deletion syndrome. J Psychiatr Res.  92: 124-131, Apri 15 2017.

Johnston, H.R., Chopra, P., Wingo, TS., Patel, V., International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome, Epstein, M.P., Mulle, J.G., Warren, S.T., Zwick, M.E., Cutler, D.J: : PEMapper and PECaller provide a simplified approach to whole-genome sequencing.  Proc Natl Acad Sci U S A.  114(10): E1923-W1932, Mar 7 2017.

Bieber, F.R., Cherry, A.M., Emanuel, B.S., Francke, U., Hoyme, H.E., Jackson, L.G., Morton, C.C., Muenke, M., Powell, C.M., Punnett, H.H., Rao, P.N., Schwartz, S., Stevenson, R.E., Van Dyke, D.L.:  Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics.  Genet Med.  19(3): 294-496, Mar 2017.

Weisman, O., Guri, Y., Gur, R.E., McDonald-McGinn, D.M., Calkins, M.E., Tang, S.X., Emanuel, B., Zackai, E.H., Eliez, S., Schneider, M., Schaer, M., Kates, W.R., Antshel, K.M., Fremont, W., Shashi, V., Hooper, S.R., Armando, M., Vicari, S., Pontillo, M., Kushan, L., Jalbrzikowski, M., Bearden, C.E., Cubells, J.F., Ousley, O.Y., Walker, E.F., Simon, T.J., Stoddard, J., Niendam, T.A., van den Bree, M.B., 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.  Page: doi: 10.1093/schbul/sbx005. [Epub ahead of print]  Feb 13 2017.

2016

Schmitt, J.E., Yi, J., Calkins, M.E., Ruparel, K., Roalf, D.R., Cassidy, A., Souders, M.C., Satterthwaite, T.D., McDonald-McGinn, D.M., Zackai, E.H., Gur, R.C., Emanuel, B.S. Gur, R.E.: : Disrupted anatomic networks in 22q11.2 deletion syndrome.  Neuroimage Clin 12: 420-428, 2016.

Mlynarksi, E.E., Xie, M., Taylor, D., Sheridan, M.B., Guo, T., Racedo, S.E., McDonald-McGinn, D.M., Chow, E.W.C., Vorstman, J., Swillen, A., Devriendt, K., Breckpot, J., Digilio, M.C., Marino, B Dallapiccola, B., Philip, N., Simon, T.J., Roberts, A.E., Piotrowicz, M., Bearden, C.E., Eliez, S., Gothelf, D., Coleman, K., Kates, W.R., Devoto,M., Zackai, E. Heine-Suner, D., Goldmuntz, E., Bassett, A.S., Morrow, B.E., Emanuel, B.S., and The international Chromosome 22q11.2 Consortium: Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.   Hum Genet  135: 273-285, 2016.

Mekori-Domachevsky, E., Guri, Y., Yi, J., Weisman, O., Calkins, M.E., Tang, S.X., Gross, R., McDonald-McGinn, D.M., Emanuel, B.S., Zackai, E.H., Zalsman, G., Weizman, A., Gur, R.C., Gur, R.E., Gothelf, D.: : Negative subthreshold psychotic symptoms distinguish 22q11.2 deletion syndrome from other neurodevelopmental disorders: A two-site study. Schizophr Res.  Page:  pii: S0920-9964(16)30598-9. doi: 10.1016/j. Dec 29 2016.

Hestand, M.S., Nowakowska, B.A., Vergaelen, E., Van Houdt, J., Dehaspe, L., Del-Favero, J., Zackai, E., Swillen, A., Devriendt, K., Gur, R., McDonald-McGinn, D.M., Warren, S.T., Emanuel, B.S., and Vermeesch, J.R.: A catalog of hemizygous variation in 127 22q11 deletion patients.  Human Genome Variation  3: 15-65, 2016.

Franconi, C.P., McDonald-McGinn, D., Moss, E., Devoto, M., McNamara, M., Emanuel, B.S.:  IQ and Hemizygosity for the Val158Met Functional Polymorphism of COMT in 22q11DS  Am. J. Med. Genet.  17(18): 1112-1115, Dec 2016.

Weinberger, R., Yi, J., Calkins, M. Guri, Y., McDonald-McGinn, D.M., Emanuel, B.S., Zackai, E.H., Ruparel, K., Carmel, M., Micjaelovsky, E., Weizman, A., Gur, R.C., Gur, R.E.,  Gothelf, D.: Neurocognitive profile in psychotic versus nonpsychotic individuals with 22q11.2 deletion syndrome.  Eur Neuropsychopharmacol   26(10): 16160-16168, Oct 2016.

Tang, S.X., Moore, T.M., Calkins, M.E., Yi, J.J., Savitt, A., Kohler, C.G., Souders, M.C., Zackai, E.H., McDonald-McGinn, D.M., Emanuel, B.S., Gur, R.C., Gur, R.E.: The psychosis spectrum in 22q11.2 deletion syndrome is comparable to that of nondelete.  Biol Psychiatry. Page: pii: S0006-3223(16)32777-9. doi: 10.1016, Sept 8 2016.

Erratum to: 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening.: Erratum to: 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening. Mol Autism 7: 34, Jul 13 2016 Notes: PMCID: PMC4944480.

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  19(6): 19372, Jan 2016.

Wenger, T.L., Miller, J.S., DePolo, L.M., de Marchena, A.B., Clements, C.C., Emanuel, B.S., Zackai, E.H., McDonald-McGinn, D.M., Schultz, R.T.: 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening.  Mol Autism  7: 27, 2016.

2015

Schmitt, J.E., Vandekar, S., Yi, J., Calkins, M.E., Ruparel, K., Roalf, D.R., Whinna, D., Souders, M.C, Satterwaite, T.D, Prabhakaran, K., McDonald-McGinn, D.M., Zackai, E.H., Gur, R.C., Emanuel, B.S., Gur, R.E. : Aberrant cortical morphometry in the 22q11.2 deletion syndrome. Biol Psychiatry.  78: 135-143, 2015.

Racedo, S.E., McDonald-McGinn, D.M., Chung, J.H., Goldmuntz, E., Zackai, E., Emanuel, B.S., Zhou, B., Funke, B., Morrow, B.E: : Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.  Am J Hum Genet.  96: 235-244, 2015.

Mlynarski, E.E., Sheridan, M.B., Xie, M., Guo, T., Racedo, S.E. McDonald McGinn, D.M.,Gai, X., Chow, E.W.C., Vorstman J., Swillen, A., Devriendt, K., Breckpot, J., Digilio, M.C., Marino, B., Dallapiccola, B., Philip, N., Simon, T.J., Roberts, A.E., Piotrowicz, M., Bearden, C.E., Eliez S., Gothelf, D., Coleman, K.,  Kates, W.R., Devoto, M.,  Zackai, E.,  Heine-Suñer, D.,Shaikh, T.H., Bassett, A.,S., Goldmuntz, E., Morrow, B.E., Emanuel, B.S. And the International Chromosome 22q11.2 Consortium. : Copy Number Variation of the glucose transporter gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.  Am. J. Hum. Genet. 96(5): 753-764, 2015.

Mishra, D., Kato, T.,  Inagaki, H., Kosho, T., Wakui, K.,  Kido, Y.,  Satoru Sakazume, S.,  Taniguchi-Ikeda, M., Morisada, N.,  Iijima, K., Fukushima, Y.,  Emanuel, B.S., and Hiroki Kurahashi, H.:  Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation.  Molecular Cytogenetics 7: 55, 2015.

Guo, T., Chung J.H., Wang, T., McDonald-McGinn, D.M., Kates, W.R., Hawula, W., Coleman, K., Zackai E., Emanuel, B.S.: Histone modifier genes after conotruncal heart phenotypes in 22q11.2 deletion syndrome. Am H Hum Genet 97(7): 869-877, Dec 2015.

McDonald-McGinn, D.M., Sullivan, K., Marino, B., Philip, N., Swillen, A., Vortsman, J,, Zackai E.H., Emanuel, B., Vermeesch, J., Morrow, B., Scambler, P., Bassett, A.: 22q11.2 Deletion.  Nature Reviews, Disease Primers 1: 15071, Nov 2015.

Yi, J.J., Calkins, M.E., Tang, S.X., Kohler, C.G., McDonald-McGinn, D.M., Zackai, E.H., Savitt, A.P., Bilker, W.B., Whinna, D.A., Souders, M.C., Emanuel, B.S., Gur, R.C., Gur, R.E.: Impact of psychiatric comorbidity and cognitive defect on function n 22q11.2 deletion syndrome. J Clin Psychiatry  76(10): e1262-1270, Oct 2015.

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; 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.

2014

Yi, J.J., Tang, S.X.,  McDonald-McGinn, D.M.,  Calkins, M.E., Whinna, D.A., Souders, M.C., Zackai, E.H.,  Goldmuntz, E., Gaynor, J.W., Gur, R.C.,Emanuel, B.S. and Raquel E. Gur, R.E.; : 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: 137-147, 2014.

Tang, S.X., Yi ,J.J., Moore, T.M., Calkins, M.E., Kohler, C.G., Whinna, D.A., Souders, M.C., Zackai, E.H., McDonald-McGinn, D.M., Emanuel, B.S., Bilker, W.B., Gur, R.C., Gur, R.E.: Subthreshold psychotic symptoms in 22q11.2 deletion syndrome. J Am Acad Child Adolesc Psych.(53), 991-1000, 2014.

Schmitt, J.E., Yi, J.J., Roalf, D.R., Loevner, L.A., Ruparel, K., Whinna, D., Souders, M.C., McDonald-McGinn, D.M., Yodh, E., Vandekar, S., Zackai, E.H., Gur, R.C. Emanuel, B.S., Gur, R.E.: Incidental radiologic findings in the 22q11.2 deletion syndrome.   : Incidental radiologic findings in the 22q11.2 deletion syndrome.    Am J Neuroradiol.  35: 2186-2891, 2014.

Kato T, Franconi CP, Sheridan MB, Hacker AM, Inagakai H, Glover TW, Arlt MF, Drabkin HA, Gemmill RM, Kurahashi H, Emanuel BS.: Analysis of the t(3;8) of hereditary renal cell carcinoma: a palindrome-mediated translocation.   Cancer Genetics 207: 133-140, 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: 1205-1211, 2014.

Bloch M, Leonard A, Diplas AA, Pepermans X, Emanuel BS, Rocca MS, Revencu N, Sznajer Y.: : Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2-24.1. Am J Med Genet A.  164A: 1789-1794, 2014.

2013

Widdershoven, J.C., Bowser, M., Sheridan, M.B., McDonald-McGinn, D.M., Zackai, E.H., Solot, C.B., Kirschner, R.E., Beemer, F.A., Morrow, B.E., Devoto, M., Emanuel, B.S.: A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients.   Int J Pediatr Otorhinolaryngol.  77: 123-177, 2013.

Tang, S.X., James. Yi, J. J ., Calkins, M.E., Daneen A. Whinna, D.A., Kohler, C.G., Souders, M.C., McDonald-McGinn, D.M., Zackai, E.H., Emanuel, B.S., Gur, R.C., and Gur, R.E.: Psychiatric Disorders in 22q11.2 Deletion Syndrome are Prevalent but Under-Treated.   Psychological Medicine 9: 1-22, 2013.

Peyvandi S, Lupo PJ, Garbarini J, Woyciechowski S, Edman S, Emanuel BS, Mitchell LE, Goldmuntz E. : 22q11.2 deletions in patients with conotruncal defects: Data from 1,610 consecutive cases.   Pediatr Cardiol.  34: 1687-1694, 2013.

McDonald-McGinn, D.M., Fahiminiya, S., Revil, T., Nowakowska, B.A., Suhl, J., Bailey, A., Mlynarski, E., Lynch, D.R., Yan, A.C., Bilaniuk, L.T., Sullivan, K.E., Warren, S.T., Emanuel, B.S., Vermeesch, J.R., Zackai, E.H., Jerome-Majewska, L.A.: Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.  J Med Genetic  50: 80-90, 2013.

Inagaki H, Ohye T, Kogo H, Tsutsumi M, Kato T, Tong M, Emanuel BS, Kurahashi H.:: Two sequential cleavage reactions on cruciform DNA structures cause palindrome-mediated chromosomal translocations.  Nat Commun.  4: 1592, 2013.

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:  : Craniofacial phenotype and TBX1 genotype correlations in 737 velo-cardiofacial/ DiGeorge/22q11.2 deletion syndrome patients.  Am J Med Genet  158A, 2781-2787 2013.

Delio, M,, Guo, T., McDonald-McGinn, D.M.,  Zackai, E., Herman, S., Kaminetzky, M., Higgins, A.M., Coleman, K., Chow, C., Jarlbrzkowski, M., Bearden, C.E., Bailey, A., Vangkilde, A., Olsen, L., Olesen, C., Skovby, F., Werge, T.M., Templin, L., Busa, T., Philip, N., Swillen, A., Vermeesch, J.R., Devriendt, K., Schneider, M., Dahoun, S., Eliez, S., Schoch, K., Hooper, S.R., Shashi, V., Samanich, J., Marion, R., van Amelsvoort, T., Boot, E., Klaassen, P., Duijff, S.N.,Vorstman, J., Yuen, T., Silversides, C., Chow, E., Bassett, A., Frisch, A., Weizman, A., Gothelf, D., Niarchou, M., van den Bree, M., Owen, M.J., Heine Suñer, D., Andreo, J.R.,  Armando, M., Vicari, S., Digilio, M.C., Auton, A., Kates, W.R., Wang, T., Shprintzen, R.J., Emanuel, B.S., Morrow, B.E.: Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes,   AJHG 93: 439-447, 2013.

Corsten-Janssen, N., Saitta, S.C.,  Hoefsloot, L.H., McDonald-McGinn, D.M., Driscoll, D.A., Derks, R., Dickinson, K.A.,  Kerstjens-Frederikse, W.S., Emanuel, B.S., Zackai, E.H.,  van Ravenswaaij-Arts, C.M.A.: More clinical overlap between 22q11.2 deletion syndrome and CHARGE syndrome than often anticipated.   Mol Syndromol  4: 235-245, 2013.

Tang, Z., Berlin, D., Toji, L., Toruner, G.A.,  Beiswanger, C., Kulkarni, S., Martin, C.L., Emanuel, B.S., Christman, M., Gerry, N.P.: : A dynamic database of microarray-characterized cell lines with various genetic and genomic backgrounds.  G3: Genes, Genomes, Genetics  3(7): 1617, Jul 2013.

2012

Herman, S.B., Guo, T., McGinn, D.M., Blonska, A., Shanske, A.L., Bassett, A.S., Chow, E.W., 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.S., Morrow, B.E., 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 A.  158A: 2781-2787, 2012.

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 R, Gur R: 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 B Neuropsychiatr Genet  159B: 87-93, 2012.

Emanuel, B.S., Warren, S.T., Garver, K.B.: The human genome: a diamond in the rougt.   Curr Opin Genet Dev   22: 189-190, 2012.

Kato, T., Kurahashi, H., Emanuel, B.: Chromosomal translocations and palindromic AT-rich repeats.   Curr Opin Genet Dev 22(3): 221-228, Jun 2012.

2011

Kato, T., Inagaki, H., Tong, M., Kogo, H., Ohye, T., Yamada, K., Tsutsumi, M.,Emanuel, B.S, Kurahashi, H.: DNA secondary structure is influenced by genetic variation and alters susceptibility to de novo translocation. Mol Cytogenet.  8: 18, 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, The International Chromosome 22q11.2 Consortium.: Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients.  Hum Mutat.   32: 1278-1289, 2011.

Busse, T., Graham, J.M. Jr., Feldman, G., Perin, J., Catherwood, A., Knowlton, R., Rappaport, E.F., Emanuel, B., Driscoll, D.A., Saitta, SC.: High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome.  Hum Mutat.  32(2): 91-97, 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: 332-339, 2011.

Vorstman JA, van Daalen E, Jalali GR, Schmidt ER, Pasterkamp RJ, de Jonge M, Hennekam EA, Janson E, Staal WG, van der Zwaag B, Burbach JP, Kahn RS, Emanuel BS, van Engeland H, Ophoff RA: A double hit implicates DIAPH3 as an autism risk gene.    Mol Psychiatry.    16(4): 442-451, April 2011.

2010

Tong, M., Kato, T., Tamada, K., Inagaki, H., Kogo, H., Ohye, T., Tsutsumi, M., Wang, J., Emanuel, B.S. and Kurahashi, H.: : Polymorphisms of the 22q11.2 breakpoint region influence the frequency of de novo constitutional t(11;22)s in sperm. Hum. Molec. Genet.  19: 2630-2637, 2010.

Sheridan, M.B., Kato, T., Haldeman-Englert, C., Jalali, G.R., Milunsky, J.M., Zu, T., Klaes, R., Gimelli, G., Gimelli, S., Gemmill, R.M., Drabkin, G.A., Hacker, A.M., Brown, J., Tomkins, D., Shaikh, T.H., Kurahashi, H., Zackai, E.H. and Emanuel, B.S.:   : A palindrome-mediated recurrent translocation with 3:1 meiotic non-disjunction: the t(8;22)(q24.13;q11.21).  Am. J. Hum. Genet.  87: 209-218, 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.  18: 783-787, 2010.

Kurahashi H, Inagaki H, Ohye T, Kogo H, Tsutsumi M, Kato T, Tong M, Emanuel BS. : The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements.  Clin Genet.   78: 299-309, 2010.

Carter, M.T., Barrowman, N.J., St. Pierre, S.A., Emanuel, B.S. and Boycott, K.M.: Risk of breast cancer not increased in translocation 11;22 carriers: analysis of 80 pedigrees.  Am J Med  152A: 212-214, 2010.

2009

Vorstman JA, Turetsky BI, Sijmens-Morcus ME, de Sain MG, Dorland B, Sprong M, Rappaport EF, Beemer FA, Emanuel BS, Kahn RS, van Engeland H, Kemner  C. Proline Affects Brain Function in 22q11DS Children with the Low Activity COMT(158) Allele. Neuropsychopharmacology 34: 739-746, 2009.

Kurahashi, H., Inagaki, H., Kato, T., Hosoba, E., Kogo, H., Ohye, T., Tsutsumi, M.,   Bolor, H., Tong, M.,  and Emanuel, B.S.: Impaired DNA replication prompts deletions within palindromic sequences, but does not induce translocations in human cells.  Hum. Mol. Genet.  18: 3397-3406, 2009.

Inagaki H, Ohye T, Kogo H, Kato T, Bolor H, Taniguchi M, Shaikh TH, Emanuel BS, Kurahashi H. : Chromosomal instability mediated by non-B DNA: Cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans.  Genome Res.  19: 191-198, 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 Treatment 85: 125-129, 2009.

Carter, M.T., St. Pierre, S.A., Zackai, E.H., Emanuel, B.S., Boycott, K.M.: Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals.  Am J Med Genet A.  149A: 1712-1721, 2009.

Belangero, S.I.N., da Silva Bellucco, F.T,. Cernach, M.C.S.P., Hacker, A.M., Emanuel, B.S., Melaragno, M.I.: Interrupted aortic arch type B in a patient with Cat Eye Syndrome.   Arq Bras Cardiol   92: e29-e31, 2009.

Bearden, C.E., van Erp, T.G., Dutton, R.A., Lee, A.D., Simon, T.J., Cannon, T.D., Emanuel, B.S., McDonald-McGinn, D., Zackai, E.H., Thompson, P.M.: Alterations in midline cortical thickness and gyrification patterns mapped in children with 22q11.2 deletions. Cereb Cortex 19: 1115-126, 2009.

2008

Nogueira, S.I., Hacker, A.M., Bellucco, F.T., Christofolini, D.M., Kulikowski, L.D., Cernach, M.C., Emanuel, B.S., and Melaragno, M.I. : Atypical 22q11.2 Deletion in a Patient with DGS/VCFS Spectrum.    Eur. J. Med. Genet.  51: 226-230, 2008.

Li, M.M., Nimmakayalu, M.A., Mercer, D., Andersson, H.C., and Emanuel, B.S. Characterization of a Cryptic 3.3 Mb Deletion in a Patient with a "Balanced t(15;22) Translocation" Using High Density Oligo Array CGH and Gene Expression Arrays.  Am. J. Med. Genet. 146: 368-375, 2008.

Kato, T., Inagaki, H., Kogo, H., Ohye, T., Yamada, K.,  Emanuel, B.S., and  Kurahashi. H. : Two different forms of palindrome resolution in the human genome: deletion or translocation.  Hum. Molec. Genet 17: 1184-1191, 2008.

Jalali G.R., Vorstman J.A., Errami A., Vijzelaar R., Biegel J., Shaikh T.H., Emanuel B.S. : Detailed Analysis of 22q11.2 with a High Density MLPA Probe Set. Human Mutation 29(3): 433-440, 2008.

Hoogendoorn, M.L., Vorstman, J.A., Jalali, G.R., Selten, J.P., Sinke, R.J., Emanuel, B.S., Kahn, R.S.: Prevalence of 22q11.2 deletions in 311 Dutch patients with schizophrenia.    Schizophr Res. 98: 84-88, 2008.

Emanuel, B.S.: Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements.    Developmental Disabilities Research Reviews 14: 11-18, 2008.

2007

Sundaram, U.T.,  McDonald-McGinn, D.M.,  Huff, D.,  Emanuel, B.S.,  Zackai, E.H.,  Driscoll, D.A.,  Bodurtha, J.: Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome.   Am J Med Genet A143: 2016-8, 2007.

Shaikh, T.H. ,  O' Connor, R.J.,  Pierpont, M.E.,  McGrath, J.,  Hacker, A.M.,,  Nimmakayalu, M.,  Geiger, E.,  Emanuel, B.S.,  Saitta, S.C.  : Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts  breakpoint mechanisms. Genome Research 17: 482-491, 2007.

Nogueira,  S.I.,  Hacker A.M.,  Bellucco F.T.,  Kulikowski L.D.,  Christofolini D.M.,  Cernach  M.C.,  Melaragno M.I.,  Emanuel B.S. : Deletion 22q11.2: Report of a complex meiotic mechanism of origin.   Am J Med Genet 143: 1778-81, 2007.

Kurahashi, H.,  Inagaki, H.,  Hosoba E.,  Kato T.,  Ohye T.,  Kogo H.,   Emanuel,  B.S. : Molecular cloning of a translocation breakpoint hotspot in 22q11.  Genome Research 17: 461-469, 2007.

Korbel J.O., Urban A.E., Grubert F., Du J., Royce T.E., Starr P., Zhong G., Emanuel B.S., Weissman S.M., Snyder M., Gerstein M.B.: Systematic prediction and validation of breakpoints associated with copy-number variants in the human genome.   Proc Natl Acad Sci U S A  104: 10110-5, 2007.

Kogo, H.,  nagaki, H.,  Ohye, T.,  Kato, T.,  Emanuel, B.,  Kurahashi, H.: Cruciform extrusion propensity of human translocation-mediating palindromic AT-rich repeats.  Nucleic Acid Research 35: 1198-1208, 2007.

Kato, T.,  Yamada, K.,  Inagaki, H.,  Kogo, H.,  Ohye, T.,  Emanuel, B.S. : Age has no effect on de novo constitutional t(11;22) translocation frequency in sperm.  Fertility and Sterility 88: 1446-1448, 2007.

Gotter, A.L.,  Suppa, C.,  Emanuel, B.S.: Mammalian TIMELESS and Tipin are evolutionarily conserved  replication fork-associated Factors. Journal of Molecular Biology 366: 36-52, 2007.

Gotter, A,.L.,  Nimmakayalu, M.A.,  Jalali, G.R.,  Hacker, A.M.,  Vorstman, J.,  Conforto Duffy, D.,  Medne,L.,  Emanuel, B.S..: A palindrome-driven complex rearrangement of 22q11.2 and  8q24.1 elucidated using novel technologies. Genome Research 17: 470-481, 2007.

Emanuel BS, Saitta SC.  : From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.  Nat Rev Genet.    8: 869-883, 2007.

Bearden, C.E.,  van Erp, T.G.M.,  Dutton, R.A.,  Tran, H.,  Zimmermann, L.,  Sun, D.,  Geaga, J.A.,  Simon, T.J.,  Glahn, D.C.,  Canon T.D.,  Emanuel, B.S.,  Toga, A.W. ,  Thompson, P.M.: Mapping cortical thickness in children with 22q11.2 deletion. Cerebral Cortex 17: 1889-98, 2007.

2006

Vorstman, J. A.,  Jalali, G. R.,  Rappaport, E. F.,  Hacker, A. M.,  Scott, C.,  Emanuel, B. S.: MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q abnormalities. Hum Mutat 8: 814-821, 2006.

Urban, A.E.,,  Korbel, J.O.,,  Selzer, R.,,  Richmond, T.,  Hacker, A.,  Popescu, G.V.,  Cubells, J.F.,  Green, R.,  Emanuel, B.S.,  Grerstein, M.B.,  Weissman, S.M.,   Snyder, M.: : High resolution mapping of DNA copy alterations in human chromosome 22 using high density tiling oligonucleotide arrays. Proc Natl Acad Sci U S A 103: 4534-4539, 2006.

Ruotolo, R.A.,  Veitia, N.A.,  Corbin, A.,  McDonough J.,  Solot, C.B.,  McDonald-McGinn, D.,  Zackai, E.H.,  Emanuel, B.S.,,  Cnaan, A.,,  Larossa, D.,,  Arens, R.,,  Kirschner, R.E.   : Velopharyngeal anatomy in 22q11.2 deletion syndrome: A three-dimensional cephalometric analysis. Cleft Palate Craniofac J.  43: 446-456, 2006.

Macville, M.V.,  Loneus, W.H.,  Marcus-Soekarman, D.,  Huys, E.H.,  Schoenmakers, E.F.,  Schrank-Hacker, A.,  Emanuel,  B.S. ,  Engelen, J.J.: XX male with sex reversal and a de novo 11;22 translocation. Am. J. Med. Genet.  140: 1973-1977, 2006.

Kurahashi, H., Inagak,i H., Ohye, T., Kogo, H., Kato, T., Emanuel, B.S.: Chromosomal translocations mediated by palindromic DNA. Cell Cycle  5: 1297-303,  2006.

Kurahashi, H.,  Inagaki, H.,  Ohye, T.,  Kogo, H.,  Kato, T.,  Emanuel, B.S.: Palindrome-mediated chromosomal translocations in humans. DNA Repair  5: 1136-1145, 2006.

Kato, T.,,  Inagaki, H.,  Yamada, K.,  Kogo, H.,  Ohye, T.,  Kowa, H.,  Nagaoka, K.,  Taniguchi, M.,,  Emanuel, B.S.,  Kurahashi,  H.:   : Genetic variation affects de novo  translocation frequency  Science 311: 971, 2006.

Driscoll, D.A., Boland, T., Emanuel, B.S., Kirschner, R.E., LaRossa, D., Manson, J., McDonald-McGinn, D., Randall, P., Solot, C., Zackai, E., Mitchell, L.E.: Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome.  Cleft Palate Craniofacial J  43: 435-441, 2006.

Ashley, T., Gaeth, A.P., Inagaki, H., Seftel, A., Cohen, M.M., Anderson, L.K., Kurahashi, H., Emanuel, B.S.:  Meiotic recombination and spatial proximity in the etiology of the recurrent t(11;22).  Am. J. Hum. Genet.  79: 524-538, 2006.

2005

Simon, T.J., Bish, J.P., Bearden, C.E., Ding, L., Ferrante, S., Nguyen, V., Gee, J.C., McDonald-McGinn, D.M., Zackai, E.H. and Emanuel, B.S.: A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children.  Develop & Psychopathol  17: 753-784, 2005.

Simon, T.J., Bish, J.P., Bearden, C.E., Ding, L., Ferrante, S., Nguyen, V., Gee, J.C., McDonald-McGinn, D.M., Zackai, E.H. and Emanuel, B.S.: A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children.  Develop & Psychopathol   17: 753-784, 2005.

McDonald-McGinn, D. M.,  Minugh-Purvis, N.,  Kirschner, R. E.,  Jawad, A.,  Tonnesen, M. K.,  Catanzaro, J. R.,  Goldmuntz, E.,  Driscoll, D.,  Larossa, D.,  Emanuel, B. S.,  Zackai, E. H.: The 22q11.2 deletion in African-American patients: an underdiagnosed population? Am J Med Genet A 134(3): 242-6, 2005.

Jobanputra, V.,  Chung, W. K.,  Hacker, A. M.,  Emanuel, B. S.,  Warburton, D.: A unique case of der(11)t(11;22),-22 arising from 3:1 segregation of a maternal t(11;22) in a family with co-segregation of the translocation and breast cancer. Prenatal Diagnosis  25(8): 683-6, 2005.

Inagaki, H.,  Ohye, T.,  Kogo, H.,  Yamada, K.,  Kowa, H.,  Shaikh, T. H.,  Emanuel, B. S.,  Kurahashi, H.: Palindromic AT-rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primates. Hum Mutat 26(4): 332-42, 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. J. Med. Genet 42(1): 49-53, 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. J Autism Dev Disord  35(4): 461-70, 2005.

Bearden, C. E.,  Jawad, A. F.,  Lynch, D. R.,  Monterossso, J. R.,  Sokol, S.,  McDonald-McGinn, D. M.,  Saitta, S. C.,  Harris, S. E.,  Moss, E.,  Wang, P. P.,  Zackai, E.,  Emanuel, B. S.,  Simon, T. J.: Effects of COMT genotype on behavioral symptomatology in the 22q11.2 Deletion Syndrome. Neuropsychol Dev Cogn C Child Neuropsychol. 11(1): 109-17, 2005.

2004

Saitta, S. C.,  Harris, S. E.,  McDonald-McGinn, D. M.,  Emanuel, B. S.,  Tonnesen, M. K.,  Zackai, E. H.,  Seitz, S. C.,  Driscoll, D. A.: Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome. Am. J. Med. Genet. 124(3): 313-7, 2004.

Saitta, S. C.,  Harris, S. E.,  Gaeth, A. P.,  Driscoll, D. A.,  McDonald-McGinn, D. M.,  Maisenbacher, M. K.,  Yersak, J. M.,  Chakraborty, P. K.,  Hacker, A. M.,  Zackai, E. H.,  Ashley, T.,  Emanuel, B. S.: Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. Hum. Mol. Genet. 13(4): 417-28, 2004.

Kurahashi, H.,  Inagaki, H.,  Yamada, K.,  Ohye, T.,  Taniguchi, M.,  Emanuel, B. S.,  Toda, T.: Cruciform DNA structure underlies the etiology for palindrome-mediated human chromosomal translocations. J Biol Chem 279(34): 35377-83, 2004.

Gotter, A. L.,  Shaikh, T. H.,  Budarf, M. L.,  Rhodes, C. H.,  Emanuel, B. S.: A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2. Hum. Mol. Genet.  13(1): 103-15, 2004.

Bearden, C. E.,  van Erp, T. G.,  Monterosso, J. R.,  Simon, T. J.,  Glahn, D. C.,  Saleh, P. A.,  Hill, N. M.,  McDonald-McGinn, D. M.,  Zackai, E.,  Emanuel, B. S.,  Cannon, T. D.: Regional brain abnormalities in 22q11.2 deletion syndrome: association with cognitive abilities and behavioral symptoms. Neurocase 10(3): 198-206, 2004.

Bearden, C. E.,  Jawad, A. F.,  Lynch, D. R.,  Sokol, S.,  Kanes, S. J.,  McDonald-McGinn, D. M.,  Saitta, S. C.,  Harris, S. E.,  Moss, E.,  Wang, P. P.,  Zackai, E.,  Emanuel, B. S.,  Simon, T. J.: Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome. Am J Psychiatry  161(9): 1700-2, 2004.

2003

McElhinney DB., Driscoll DA., Levin ER., Jawad AF., Emanuel BS., Goldmuntz E.: Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies. Pediatrics 112(6 Pt 1): e472, Dec 2003.

Nimmakayalu MA., Gotter AL., Shaikh TH., Emanuel BS.: A novel sequence-based approach to localize translocation breakpoints identifies the molecular basis of a t(4;22). Human Molecular Genetics 12(21): 2817-25, Nov 1 2003.

McElhinney DB., Driscoll DA., Emanuel BS., Goldmuntz E.: Chromosome 22q11 deletion in patients with truncus arteriosus. Pediatric Cardiology 24(6): 569-73, Nov-Dec 2003.

DeBerardinis RJ., Conforto D., Russell K., Kaplan J., Kollros PR., Zackai EH., Emanuel BS.: Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21. American Journal of Medical Genetics 121A(1): 31-6, Aug 15 2003.

Kurahashi H., Shaikh T., Takata M., Toda T., Emanuel BS.: The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats. American Journal of Human Genetics 72(3): 733-8, Mar 2003.

Stalmans I, Lambrechts D, De Smet F, Jansen S, Wang J, Maity S, Kneer P, Von Der Ohe M, Swillen A, Maes C, Gewillig M, Molin DG, Hellings P, Boetel T, Haardt M, Compernolle V, Dewerchin M, Plaisance S, Vlietinck R, Emanuel B, Gittenberger-De Groot AC, Scambler P, Morrow B, Driscoll DA, Moons L, Esguerra CV, Carmeliet G, Behn-Krappa A, Devriendt K, Collen D, Conway SJ, Carmeliet P.: : VEGF: A modifier of the del22q11 (DiGeorge) syndrome?  Nat Med  9(2): 173-182, Feb 2003.

2002

Villanueva MP, Aiyer AR, Muller S, Pletcher MT, Liu X, Emanuel B, Srivastava D, Reeves RH.:  : Genetic and comparative mapping of genes dysregulated in mouse hearts lacking the hand2 transcription factor gene. Genomics  80(6): 593-600, Dec 2002.

2001

Gong W., Gottlieb S., Collins J., Blescia A., Dietz H., Goldmuntz E., McDonald-McGinn DM., Zackai EH., Emanuel BS., Driscoll DA., Budarf ML.: 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. and Shaikh, T.H.: : An 'expanding role' in genomic instability and disease.   Nature Reviews  2: 791-800, 2001.

Bearden, C.E., Woodin, M.F., Wang, P.P., Moss, E., McDonald-McGinn, D., Zackai, E., Emanuel, B., Cannon, T.: The neurocognitive phenotype of the 22q11.2 deletion syndrome: selective deficit in visual-spatial memory.   J Clin Exp Neuropsychol  23: 447-464, 2001.

Emanuel, B.S., McDonald-McGinn, D., Saitta, S.C., Zackai, E.H.: The 22q11.2 deletion syndrome.   Adv. Pediatr.  48: 39-83, 2001.

Kurahashi H., Emanuel BS.: Long AT-rich palindromes and the constitutional t(11;22) breakpoint. Human Molecular Genetics 10(23): 2605-17, Nov 1 2001.

Kurahashi H., Emanuel BS.: Unexpectedly high rate of de novo constitutional t(11;22) translocations in sperm from normal males. Nature Genetics 29(2): 139-40, Oct 2001.

Gripp KW., Kasparcova V., McDonald-McGinn DM., Bhatt S., Bartlett SP., Storm AL., Drumheller TC., Emanuel BS., Zackai EH., Stolle CA.: 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.

McDonald-McGinn DM., Tonnesen MK., Laufer-Cahana A., Finucane B., Driscoll DA., Emanuel BS., Zackai EH.: 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.

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, 2000.

Kurahashi H., Shaikh TH., Emanuel BS. Alu-mediated PCR artifacts and the constitutional t(11;22) breakpoint. Human Molecular Genetics 9(18): 2727-32, Nov 1 2000.

Kurahashi H., Shaikh TH., Zackai EH., Celle L., Driscoll DA., Budarf ML., Emanuel BS.: 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.

Verma S., Budarf ML., Emanuel BS., Chinnadurai G.: Structural analysis of the human pro-apoptotic gene Bik: chromosomal localization, genomic organization and localization of promoter sequences. Gene 254(1-2): 157-62, Aug 22 2000.

Eicher PS., McDonald-Mcginn DM., Fox CA., Driscoll DA., Emanuel BS., Zackai EH.: Dysphagia in children with a 22q11.2 deletion: unusual pattern found on modified barium swallow.[see comment] Journal of Pediatrics 137(2): 158-64, Aug 2000.

Kurahashi H., Shaikh TH., Hu P., Roe BA., Emanuel BS., Budarf ML.: Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22). Human Molecular Genetics 9(11): 1665-70, Jul 1 2000.

Hodes ME., Woodward K., Spinner NB., Emanuel BS., Enrico-Simon A., Kamholz J., Stambolian D., Zackai EH., Pratt VM., Thomas IT., Crandall K., Dlouhy SR., Malcolm S.: Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.[see comment] American Journal of Human Genetics 67(1): 14-22, Jul 2000.

Shaikh TH., Kurahashi H., Saitta SC., O'Hare AM., Hu P., Roe BA., Driscoll DA., McDonald-McGinn DM., Zackai EH., Budarf ML., Emanuel BS.: 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.

Lund J., Chen F., Hua A., Roe B., Budarf M., Emanuel BS., Reeves RH.: Comparative sequence analysis of 634 kb of the mouse chromosome 16 region of conserved synteny with the human velocardiofacial syndrome region on chromosome 22q11.2. Genomics 63(3): 374-83, Feb 1 2000.

1999

The Chromosome 22 Sequencing Consortium:  Emanuel, B.S., Budarf, M.L., Shaikh, T., Saitta, S., Kurahashi, H.: The DNA sequence of human chromosome 22. Nature  402: 489-495, 1999.

Shaikh TH., Budarf ML., Celle L., Zackai EH., Emanuel BS.: 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.

McQuade, L.R., Christodoulou, J., Budarf, M., Sachdev, R., Wilson, M., Emanuel, B., Colley, A.: Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR).   Am. J. Med. Genet.  86: 27-33, 1999.

McDonald-McGinn DM., 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 JE., Grace K., Driscoll D., Pasquariello P., Randall P., Larossa D., Emanuel BS., Zackai EH.: The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genetic Counseling 10(1): 11-24, 1999.

Sullivan KE., McDonald-McGinn D., Driscoll DA., Emanuel BS., Zackai EH., Jawad AF.: 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.

Kerstjens-Frederikse WS., Kurahashi H., Driscoll DA., Budarf ML., Emanuel BS., Beatty B., Scheidl T., Siegel-Bartelt J., Henderson K., Cytrynbaum C., Nie G., Teshima I.: Microdeletion 22q11.2: clinical data and deletion size. Journal of Medical Genetics 36(9): 721-3, Sep 1999.

Saitta SC., McGrath JM., Mensch H., Shaikh TH., Zackai EH., Emanuel BS.: 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 PP., Moss E., LaRossa D., Randall P., Goldmuntz E., Clark BJ 3rd., Driscoll DA., Jawad A., Emanuel BS., McDonald-McGinn DM., Batshaw ML., Zackai EH.: Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion. American Journal of Medical Genetics 85(2): 127-33, Jul 16 1999.

Lund J., Roe B., Chen F., Budarf M., Galili N., Riblet R., Miller RD., Emanuel BS., Reeves RH.: Sequence-ready physical map of the mouse chromosome 16 region with conserved synteny to the human velocardiofacial syndrome region on 22q11.2. Mammalian Genome 10(5): 438-43, May 1999.

Shaikh TH., Gottlieb S., Sellinger B., Chen F., Roe BA., Oakey RJ., Emanuel BS., Budarf ML.: Characterization of CDC45L: a gene in the 22q11.2 deletion region expressed during murine and human development. Mammalian Genome 10(3): 322-6, Mar 1999.

Moss EM., Batshaw ML., Solot CB., Gerdes M., McDonald-McGinn DM., Driscoll DA., Emanuel BS., Zackai EH., Wang PP.: Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern.[see comment] Journal of Pediatrics 134(2): 193-8, Feb 1999.

1998

McTaggart KE., Budarf ML., Driscoll DA., Emanuel BS., Ferreira P., McDermid HE.: Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints. Cytogenetics & Cell Genetics 81(3-4): 222-8, 1998.

Bashir, M.M., Abrams, W.R., Tucker, T., Sellinger, B., Budarf, M., Emanuel, B. and Rosenbloom, J.: : Molecular cloning and characterization of the bovine and human tuftelin genes.  Connective Tissue Res. 39: 13-24, 1998.

Wang PP., Solot C., Moss EM., Gerdes M., McDonald-McGinn DM., Driscoll DA., Emanuel BS., Zackai EH.: Developmental presentation of 22q11.2 deletion (DiGeorge/velocardiofacial syndrome). Journal of Developmental & Behavioral Pediatrics 19(5): 342-5, Oct 1998.

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

Weinzimer SA., McDonald-McGinn DM., Driscoll DA., Emanuel BS., Zackai EH., Moshang T Jr.: Growth hormone deficiency in patients with 22q11.2 deletion: expanding the phenotype. Pediatrics 101(5): 929-32, May 1998.

Smith CA., Driscoll DA., Emanuel BS., McDonald-McGinn DM., Zackai EH., Sullivan KE.: 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.

Sullivan KE., Jawad AF., Randall P., Driscoll DA., Emanuel BS., McDonald-McGinn DM., Zackai EH.: 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.

Gottlieb S., Driscoll DA., Punnett HH., Sellinger B., Emanuel BS., Budarf ML.: Characterization of 10p deletions suggests two nonoverlapping regions contribute to the DiGeorge syndrome phenotype. American Journal of Human Genetics 62(2): 495-8, Feb 1998.

1997

Rhodes CH., Call KM., Budarf ML., Barnoski BL., Bell CJ., Emanuel BS., Bigner SH., Park JP., Mohandas TK.: Molecular studies of an ependymoma-associated constitutional t(1;22)(p22;q11.2). Cytogenetics & Cell Genetics 78(3-4): 247-52, 1997.

McDonald-McGinn DM., 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 JE., Driscoll D., Clark BJ 3rd., Markowitz R., Cohen A., Moshang T., Pasquariello P., Randall P., Emanuel BS., Zackai EH.: The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genetic Testing 1(2): 99-108, 1997.

Driscoll DA., Emanuel BS., Mitchell LE., Budarf ML.: PCR assay for screening patients at risk for 22q11.2 deletion. Genetic Testing 1(2): 109-13, 1997.

Ming JE., McDonald-McGinn DM., Megerian TE., Driscoll DA., Elias ER., Russell BM., Irons M., Emanuel BS., Markowitz RI., Zackai EH.: Skeletal anomalies and deformities in patients with deletions of 22q11. American Journal of Medical Genetics 72(2): 210-5, Oct 17 1997.

Bingham PM., Zimmerman RA., McDonald-McGinn D., Driscoll D., Emanuel BS., 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.

Chieffo C., Garvey N., Gong W., Roe B., Zhang G., Silver L., Emanuel BS., Budarf ML.: Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene. Genomics 43(3): 267-77, Aug 1 1997.

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

Jaquez M., Driscoll DA., Li M., Emanuel BS., Hernandez I., Jaquez F., Lembert N., Ramirez J., Matalon R.: Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndrome. American Journal of Medical Genetics 70(1): 6-10, May 2 1997.

Gottlieb S., Emanuel BS., Driscoll DA., Sellinger B., Wang Z., Roe B., Budarf ML.: The DiGeorge syndrome minimal critical region contains a goosecoid-like (GSCL) homeobox gene that is expressed early in human development.[see comment] American Journal of Human Genetics 60(5): 1194-201, May 1997.

Galili N., Baldwin HS., Lund J., Reeves R., Gong W., Wang Z., Roe BA., Emanuel BS., Nayak S., Mickanin C., Budarf MI., Buck CA.: A region of mouse chromosome 16 is syntenic to the DiGeorge, velocardiofacial syndrome minimal critical region.[erratum for Genome Res. 1997 Jan;7(1):17-26; PMID: 9037598] Genome Research 7(4): 399, Apr 1997.

Sullivan KE., McDonald-McGinn DM., Driscoll DA., Zmijewski CM., Ellabban AS., Reed L., Emanuel BS., Zackai EH., Athreya BH., 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.

Holmes SE., Riazi MA., Gong W., McDermid HE., Sellinger BT., Hua A., Chen F., Wang Z., Zhang G., Roe B., Gonzalez I., McDonald-McGinn DM., Zackai E., Emanuel BS., Budarf ML.: 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 KW., McDonald-McGinn DM., Driscoll DA., Reed LA., Emanuel BS., Zackai EH.: Nasal dimple as part of the 22q11.2 deletion syndrome. American Journal of Medical Genetics 69(3): 290-2, Mar 31 1997.

Gong W., Emanuel BS., Galili N., Kim DH., Roe B., Driscoll DA., Budarf ML.: Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region. Human Molecular Genetics 6(2): 267-76, Feb 1997.

Galili N., Baldwin HS., Lund J., Reeves R., Gong W., Wang Z., Roe BA., Emanuel BS., Nayak S., Mickanin C., Budarf ML., Buck CA.: A region of mouse chromosome 16 is syntenic to the DiGeorge, velocardiofacial syndrome minimal critical region.[erratum] Genome Research 7(1): 17-26, Jan 1997.

1996

McDermid HE., McTaggart KE., Riazi MA., Hudson TJ., Budarf ML., Emanuel BS., Bell CJ.: Long-range mapping and construction of a YAC contig within the cat eye syndrome critical region. Genome Research 6(12): 1149-59, Dec 1996.

Budarf ML., Eckman B., Michaud D., McDonald T., Gavigan S., Buetow KH., Tatsumura Y., Liu Z., Hilliard C., Driscoll D., Goldmuntz E., Meese E., Zwarthoff EC., Williams S., McDermid H., Dumanski JP., Biegel J., Bell CJ., Emanuel BS.: Regional localization of over 300 loci on human chromosome 22 using a somatic cell hybrid mapping panel. Genomics 35(2): 275-88, Jul 15 1996.

Gong W., Emanuel BS., Collins J., Kim DH., Wang Z., Chen F., Zhang G., Roe B., Budarf ML.: A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11. Human Molecular Genetics 5(6): 789-800, Jun 1996.

1995

McDonald-McGinn, D.M., Driscoll, D.A., Bason, L., Christensen, K., Lynch, D., Sullivan, K., Canning, D., Zavod, W., Quinn, N., Weinberg, P., Clark, B.J., Emanuel, B.S., Zackai, E.H.:  : Autosomal dominant Opitz syndrome due to a 22q11.2 deletion.  Am. J. Med. Genet. 59: 103-113, 1995.

Bell, C.J., Budarf, M.L., Nieuwenhuijsen, B.W., Barnoski, B.B., Buetow, K.H., Campbell, K., Colbert, A., Collins, J., Desjardins, P.R., DeZwaan, T., Eckman, B., Foote, S., Hart, K., Hiester, K., Van Het Hoog, M.J., Hopper, E., Kaufman, A., McDermid, H.E., Overton, G.C., Reeve, M.P., Searls, D.B., Stein, L., Valmiki, V.H., Watson, E., Williams, S., Winston, R., Nussbaum, R.L., Lander, E.S., Fischbeck, K., Emanuel, B.S. and Hudson, T.J.: : Integration of physical, breakpoint and genetic maps of chromosome 22.  Localization of 587 yeast artificial chromosomes with 238 mapped markers. Hum. Molec. Genet.  4: 59-69, 1995.

Lynch DR., McDonald-McGinn DM., Zackai EH., Emanuel BS., Driscoll DA., Whitaker LA., Fischbeck KH.: Cerebellar atrophy in a patient with velocardiofacial syndrome.[see comment] Journal of Medical Genetics 32(7): 561-3, Jul 1995.

Budarf ML., Collins J., Gong W., Roe B., Wang Z., Bailey LC., Sellinger B., Michaud D., Driscoll DA., Emanuel BS.: Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. Nature Genetics 10(3): 269-78, Jul 1995.

Robin NH., Sellinger B., McDonald-McGinn D., Zackai EH., Emanuel BS., Driscoll DA.: Classical Noonan syndrome is not associated with deletions of 22q11.[see comment] American Journal of Medical Genetics 56(1): 94-6, Mar 13 1995.

1994

McDermid HE., Emanuel BS.: Mapping of the human lambda immunoglobulin variable gene subgroup 1. Immunogenetics 40(3): 177-83, 1994.

Lipson, A., Emanuel, B., Colley, P., Fagan, K., Driscoll, D.A: CATCH 22 sans cardiac anomaly, thymic hypoplasia, cleft palate, and hypocalcemia: CATCH 22.  A common result of 22q11 deficiency? J. Med. Genet.  31: 741, 1994.

Hudson TJ., Colbert AM., Reeve MP., Bae JS., Lee MK., Nussbaum RL., Budarf ML., Emanuel BS., Foote S.: Isolation and regional mapping of 110 chromosome 22 STSs. Genomics 24(3): 588-92, Dec 1994.

Cohen MM., Emanuel BS.: Expressed sequence tags. Science 266(5192): 1790-1, Dec 16 1994.

Reeser SL., Donnenfeld AE., Miller RC., Sellinger BS., Emanuel BS., Driscoll DA.: Prenatal diagnosis of the derivative chromosome 22 associated with cat eye syndrome by fluorescence in situ hybridization. Prenatal Diagnosis 14(11): 1029-34, Nov 1994.

Nickel RE., Pillers DA., Merkens M., Magenis RE., Driscoll DA., Emanuel BS., Zonana J.: Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region. American Journal of Medical Genetics 52(4): 445-9, Oct 1 1994.

Giovannini M., Biegel JA., Serra M., Wang JY., Wei YH., Nycum L., Emanuel BS., Evans GA.: EWS-erg and EWS-Fli1 fusion transcripts in Ewing's sarcoma and primitive neuroectodermal tumors with variant translocations. Journal of Clinical Investigation 94(2): 489-96, Aug 1994.

Mears AJ., Duncan AM., Budarf ML., Emanuel BS., Sellinger B., Siegel-Bartelt J., Greenberg CR., McDermid HE.: Molecular characterization of the marker chromosome associated with cat eye syndrome. American Journal of Human Genetics 55(1): 134-42, Jul 1994.

Ha H., Barnoski BL., Sun L., Emanuel BS., Burrows PD.: Structure, chromosomal localization, and methylation pattern of the human mb-1 gene. Journal of Immunology 152(12): 5749-57, Jun 15 1994.

Vesa J., Hellsten E., Barnoski BL., Emanuel BS., Billheimer JT., Mead S., Cowell JK., Strauss JF 3rd., Peltonen L.: Assignment of sterol carrier protein X/sterol carrier protein 2 to 1p32 and its exclusion as the causative gene for infantile neuronal ceroid lipofuscinosis. Human Molecular Genetics 3(2): 341-6, Feb 1994.

Biegel JA., Parmiter AH., Sutton LN., Rorke LB., Emanuel BS.: Abnormalities of chromosome 22 in pediatric meningiomas. Genes, Chromosomes & Cancer 9(2): 81-7, Feb 1994.

1993

Nickel RE., Pillers DM., Merkens M., Magenis RE., Driscoll DA., Emanuel BS., Zonana J.: Velo-cardio-facial and DiGeorge syndromes with meningomyelocele and deletions of the 22Q11 region. European Journal of Pediatric Surgery 3 Suppl 1: 27-8, Dec 1993.

MacCollin, M., Romano, D., Budarf, M., Denny, C., Trofatter, J., Menon, A., Rouleau, G., Fontaine, B., Emanuel, B. and Gusella, J.: : A set of STS assays targeting the chromosome 22 physical framework markers.  Genomics   Genomics  15: 680-683, 1993.

Emanuel, B.S.: : The use of fluorescence in situ hybridization to identify human chromosomal anomalies.   Growth Genetics & Hormones  9: 6-12, 1993.

Emanuel BS., Buetow K., Nussbaum R., Scambler P., Lipinski M., Overton GC.: Report of the third international workshop on human chromosome 22 mapping. Cytogenetics & Cell Genetics 63(4): 206-11, 1993.

Wilson TA., Blethen SL., Vallone A., Alenick DS., Nolan P., Katz A., Amorillo TP., Goldmuntz E., Emanuel BS., Driscoll DA.: DiGeorge anomaly with renal agenesis in infants of mothers with diabetes. American Journal of Medical Genetics 47(7): 1078-82, Nov 15 1993.

McLean SD., Saal HM., Spinner NB., Emanuel BS., Driscoll DA.: Velo-cardio-facial syndrome. Intrafamilial variability of the phenotype.  American Journal of Diseases of Children 147(11): 1212-6, Nov 1993.

McDermid HE., Budarf ML., Emanuel BS.: Long-range restriction map of human chromosome 22q11-22q12 between the lambda immunoglobulin locus and the Ewing sarcoma breakpoint. Genomics 18(2): 308-18, Nov 1993.

Galili N., Davis RJ., Fredericks WJ., Mukhopadhyay S., Rauscher FJ 3rd., Emanuel BS., Rovera G., Barr FG.: Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma.[erratum appears in Nat Genet 1994 Feb;6(2):214] Nature Genetics 5(3): 230-5, Nov 1993.

Buetow KH., Duggan D., Yang B., Ludwigsen S., Puck J., Porter J., Budarf M., Spielman R., Emanuel BS.: A microsatellite-based multipoint index map of human chromosome 22. Genomics 18(2): 329-39, Nov 1993.

Goldmuntz E., Driscoll D., Budarf ML., Zackai EH., McDonald-McGinn DM., Biegel JA., Emanuel BS.: Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. Journal of Medical Genetics 30(10): 807-12, Oct 1993.

Driscoll DA., Salvin J., Sellinger B., Budarf ML., McDonald-McGinn DM., Zackai EH., Emanuel BS.: 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.

Tunnacliffe A., Perry H., Radice P., Budarf ML., Emanuel BS.: A panel of sequence tagged sites for chromosome band 11q23. Genomics 17(3): 744-7, Sep 1993.

Bucan M., Gatalica B., Nolan P., Chung A., Leroux A., Grossman MH., Nadeau JH., Emanuel BS., Budarf M.: Comparative mapping of 9 human chromosome 22q loci in the laboratory mouse. Human Molecular Genetics 2(8): 1245-52, Aug 1993.

Barr FG., Galili N., Holick J., Biegel JA., Rovera G., Emanuel BS.: Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma. Nature Genetics 3(2): 113-7, Feb 1993.

Kaplan FS., Murray J., Sylvester JE., Gonzalez IL., O'Connor JP., Doering JL., Muenke M., Emanuel BS., Zasloff MA.: The topographic organization of repetitive DNA in the human nucleolus. Genomics 15(1): 123-32, Jan 1993.

Biegel JA., White PS., Marshall HN., Fujimori M., Zackai EH., Scher CD., Brodeur GM., Emanuel BS.: Constitutional 1p36 deletion in a child with neuroblastoma. American Journal of Human Genetics 52(1): 176-82, Jan 1993.

1992

Rouleau GA., Emanuel BS.: Proceedings of the Second International Chromosome 22 Workshop. Genomics 14(4): 1124-6, Dec 1992.

Ramos FJ., McDonald-McGinn DM., Emanuel BS., Zackai EH.: 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, 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., Mascarello, J.T., Emanuel, B.S.: : Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.   Am. J. Med. Genet. 44: 261-268, 1992.

Giovannini M., Selleri L., Biegel JA., Scotlandi K., Emanuel BS., Evans GA.: Interphase cytogenetics for the detection of the t(11;22)(q24;q12) in small round cell tumors. Journal of Clinical Investigation 90(5): 1911-8, Nov 1992.

Frazer KA., Boehnke M., Budarf ML., Wolff RK., Emanuel BS., Myers RM., Cox DR.: A radiation hybrid map of the region on human chromosome 22 containing the neurofibromatosis type 2 locus. Genomics 14(3): 574-84, Nov 1992.

Biegel JA., Burk CD., Parmiter AH., Emanuel BS.: Molecular analysis of a partial deletion of 22q in a central nervous system rhabdoid tumor. Genes, Chromosomes & Cancer 5(2): 104-8, Sep 1992.

Barr FG., Holick J., Nycum L., Biegel JA., Emanuel BS.: Localization of the t(2;13) breakpoint of alveolar rhabdomyosarcoma on a physical map of chromosome 2. Genomics 13(4): 1150-6, Aug 1992.

Chang YJ., McCabe RT., Rennert H., Budarf ML., Sayegh R., Emanuel BS., Skolnick P., Strauss JF 3rd.: The human "peripheral-type" benzodiazepine receptor: regional mapping of the gene and characterization of the receptor expressed from cDNA. DNA & Cell Biology 11(6): 471-80, Jul-Aug 1992.

Biegel JA., Perilongo G., Rorke LB., Parmiter AH., Emanuel BS.: Malignant fibrous histiocytoma of the brain in a six-year-old girl. Genes, Chromosomes & Cancer 4(4): 309-13, Jun 1992.

Biegel JA., Burk CD., Barr FG., Emanuel BS.: Evidence for a 17p tumor related locus distinct from p53 in pediatric primitive neuroectodermal tumors. Cancer Research 52(12): 3391-5, Jun 15 1992.

Driscoll DA., Budarf ML., Emanuel BS.: A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. American Journal of Human Genetics 50(5): 924-33, May 1992.

Stambolian D., Sellinger B., Derrington D., Sargent R., Emanuel BS.: Cytogenetic and molecular investigation of a balanced Xq13q translocation in a patient with retinoblastoma. American Journal of Medical Genetics 42(6): 771-6, Apr 1 1992.

Ramos FJ., Emanuel BS., Spinner NB.: Frequency of the common fragile site at Xq27.2 under conditions of thymidylate stress: implications for cytogenetic diagnosis of the fragile-X syndrome. American Journal of Medical Genetics 42(6): 835-8, Apr 1 1992.

Grossman MH., Emanuel BS., Budarf ML.: Chromosomal mapping of the human catechol-O-methyltransferase gene to 22q11.1----q11.2. Genomics 12(4): 822-5, Apr 1992.

Rose NC., Menacker SJ., Schnur RE., Jackson L., McDonald-McGinn DM., Stump T., Emanuel BS., Zackai EH.: 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.

Barr FG., Davis RJ., Eichenfield L., Emanuel BS.: Structural analysis of a carcinogen-induced genomic rearrangement event. Proceedings of the National Academy of Sciences of the United States of America 89(3): 942-6, Feb 1 1992.

1991

Weiss, B.J., Kamholz, J., Ritter, A., Zackai, E.H., McDonald-McGinn, D.M., Emanuel, B. and Fischbeck, K.H.: : Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion.  Annals of Neurology  30:419-423, 1991 30: 419-423, 1991.

Rose, N.C., Schneider, A., McDonald-McGinn, D., Casserta, C., Emanuel, B.S., Zackai, E.:  : Brief clinical report: Interstitial deletion of 4(q21q25) in a live-born male.  Am. J. Med. Genet. 40: 77-79, 1991.

Emanuel, B.S., Budarf, M.L.  and Seizinger, B.R.: : Report of the committee on the genetic constitution of chromosome 22.   Cytogenet .Cell Genet.   58: 827-852, 1991.

Barr FG., Sellinger B., Emanuel BS.: Localization of the rhabdomyosarcoma t(2;13) breakpoint on a physical map of chromosome 13. Genomics 11(4): 941-7, Dec 1991.

Dumanski JP., Carlbom E., Collins VP., Nordenskjold M., Emanuel BS., Budarf ML., McDermid HE., Wolff R., O'Connell P., White R., et al.: A map of 22 loci on human chromosome 22. Genomics 11(3): 709-19, Nov 1991.

Biegel JA., Meek RS., Parmiter AH., Conard K., Emanuel BS.: Chromosomal translocation t(1;13)(p36;q14) in a case of rhabdomyosarcoma. Genes, Chromosomes & Cancer 3(6): 483-4, Nov 1991.

Kuwano A., Ledbetter SA., Dobyns WB., Emanuel BS., Ledbetter DH.: Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. American Journal of Human Genetics 49(4): 707-14, Oct 1991.

Budarf ML., McDermid HE., Sellinger B., Emanuel BS.: Isolation and regional localization of 35 unique anonymous DNA markers for human chromosome 22. Genomics 10(4): 996-1002, Aug 1991.

Gutmann DH., Brooks ML., Emanuel BS., McDonald-McGinn DM., Zackai EH.: 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.

Barr FG., Biegel JA., Sellinger B., Womer RB., Emanuel BS.: Molecular and cytogenetic analysis of chromosomal arms 2q and 13q in alveolar rhabdomyosarcoma. Genes, Chromosomes & Cancer 3(2): 153-61, Mar 1991.

Tabas JA., Zasloff M., Wasmuth JJ., Emanuel BS., Altherr MR., McPherson JD., Wozney JM., Kaplan FS.: Bone morphogenetic protein: chromosomal localization of human genes for BMP1, BMP2A, and BMP3. Genomics 9(2): 283-9, Feb 1991.

Kaplan JC., Emanuel BS.: Chromosome 22 workshop proceedings. Genomics 9(1): 214-8, Jan 1991.

1990

Takahashi, H., Belser, P.H., Atkinson, B.F., Sela, B., Ross, A.H., Biegel, J., Emanuel, B., Sutton, L., Koprowski, H., Herlyn, D.: : Monoclonal antibody-dependent cell-mediated cytotoxicity against human malignant gliomas.   Neurosurgery 27: 97, 1990.

Kaplan, F.S., Emanuel, B., Sellinger, B., Seifried, B., Tabas, J.A. and Zasloff, M.A.:   =: In situ  fluorescent hybridization mapping of human chromosomes: the use of low copy number single-cluster probes. = Orthopaedic J.  6: 34-39, 1990.

Budarf, M., Huebner, K., Emanuel, B., Croce, C.M., Copeland, N.G., Jenkins, N.A., and D'Andreas, A.D.: : Assignment of the erythropietin receptor (EPOR) gene to mouse chromosome 9 and human chromosome 19.  Genomics  8: 575-587, 1990.

Budarf, M., Huebner, K., Emanuel, B., Croce, C.M., Copeland, N., Jenkins, N., and D'Andrea, A.: Assignment  of the erythropoietin receptor gene (EPO-R) to human chromosome 19p and mouse chromosome 9. Genomics  8: 575-578, 1990.

Bunin GR., Petrakova A., Meadows AT., Emanuel BS., Buckley JD., Woods WG., Hammond GD.: Occupations of parents of children with retinoblastoma: a report from the Children's Cancer Study Group. Cancer Research 50(22): 7129-33, Nov 15 1990.

Biegel JA., Rorke LB., Packer RJ., Emanuel BS.: Monosomy 22 in rhabdoid or atypical tumors of the brain. Journal of Neurosurgery 73(5): 710-4, Nov 1990.

Donnenfeld AE., Graham JM Jr., Packer RJ., Aquino R., Berg SZ., Emanuel BS.: Microphthalmia and chorioretinal lesions in a girl with an Xp22.2-pter deletion and partial 3p trisomy: clinical observations relevant to Aicardi syndrome gene localization. American Journal of Medical Genetics 37(2): 182-6, Oct 1990.

Baker DL., Reddy UR., Pleasure S., Hardy M., Williams M., Tartaglione M., Biegel JA., Emanuel BS., Lo Presti P., Kreider B., et al.: Human central nervous system primitive neuroectodermal tumor expressing nerve growth factor receptors: CHP707m. Annals of Neurology 28(2): 136-45, Aug 1990.

Neidich JA., Nussbaum RL., Packer RJ., Emanuel BS., Puck JM.: Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome. Journal of Pediatrics 116(6): 911-7, Jun 1990.

Fibison WJ., Budarf M., McDermid H., Greenberg F., Emanuel BS.: Molecular studies of DiGeorge syndrome. American Journal of Human Genetics 46(5): 888-95, May 1990.

Barr FG., Emanuel BS.: Application of a subtraction hybridization technique involving photoactivatable biotin and organic extraction to solution hybridization analysis of genomic DNA. Analytical Biochemistry 186(2): 369-73, May 1 1990.

Zaccaria A., Testoni N., Tassinari A., Celso B., Emanuel BS., Budarf M., Saglio G., Guerrasio A., Barletta C., Peschle C., et al.: Molecular and cytogenetic studies of a patient with Philadelphia-negative, BCR-positive chronic myeloid leukemia and t(12;12)(q13;p12). Genes, Chromosomes & Cancer 1(4): 284-8, Mar 1990.

1989

Spinner, N.B., Eunpu, D.L., Schmickel, R.D., Zackai, E., McEldrew, D., Emanuel, B.S.: T: The role of cytologic NOR variants in the etiology of trisomy 2l.  Am. J. Hum. Genet. 44: 631-638, 1989.

Robins, D.B., Ladda, R.L., Thieme, G.A., Boal, D.K., Emanuel, B.S., Zackai, E.H.: P: Prenatal detection of Roberts-Sc phocomelia syndrome: Report of 2 siblings with characteristic features.  Am. J. Med. Genet.  32: 390-394, 1989.

Lieberburg, I., Spinner, N., Snyder, S., Goldaber, D., Smulowitz, M., Carroll, Z., Emanuel, B., Breitner, J., Rubin, L.: : Cloning of a cDNA encoding the rat high molecular weight neurofilament peptide (NF-H): Developmental and tissue expression in the rat, and mapping of its human homologue to chromosomes 1 and 22.  Proc. Natl. Acad. Sci. USA 86: 2463-2467, 1989.

Budarf M., Emanuel BS., Mohandas T., Goeddel DV., Lowe DG.: Human differentiation-stimulating factor (leukemia inhibitory factor, human interleukin DA) gene maps distal to the Ewing sarcoma breakpoint on 22q. Cytogenetics & Cell Genetics 52(1-2): 19-22, 1989.

Biegel JA., Rorke LB., Packer RJ., Sutton LN., Schut L., Bonner K., Emanuel BS.: Isochromosome 17q in primitive neuroectodermal tumors of the central nervous system. Genes, Chromosomes & Cancer 1(2): 139-47, Nov 1989.

Bunin GR., Meadows AT., Emanuel BS., Buckley JD., Woods WG., Hammond GD.: Pre- and postconception factors associated with sporadic heritable and nonheritable retinoblastoma. Cancer Research 49(20): 5730-5, Oct 15 1989.

Biegel JA., Rorke LB., Emanuel BS.: Monosomy 22 in rhabdoid or atypical teratoid tumors of the brain. New England Journal of Medicine 321(13): 906, Sep 28 1989.

McDermid HE., Budarf ML., Emanuel BS.: Toward a long-range map of human chromosomal band 22q11. Genomics 5(1): 1-8, Jul 1989.

Budarf M., Sellinger B., Griffin C., Emanuel BS.: Comparative mapping of the constitutional and tumor-associated 11;22 translocations. American Journal of Human Genetics 45(1): 128-39, Jul 1989.

Hediger MA., Budarf ML., Emanuel BS., Mohandas TK., Wright EM.: Assignment of the human intestinal Na+/glucose cotransporter gene (SGLT1) to the q11.2----qter region of chromosome 22. Genomics 4(3): 297-300, Apr 1989.

Donnenfeld AE., Packer RJ., Zackai EH., Chee CM., Sellinger B., Emanuel BS.: Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome. American Journal of Medical Genetics 32(4): 461-7, Apr 1989.

Bunin GR., Emanuel BS., Meadows AT., Buckley JD., Woods WG., Hammond GD.: Frequency of 13q abnormalities among 203 patients with retinoblastoma. Journal of the National Cancer Institute 81(5): 370-4, Mar 1 1989.

Biegel JA., Womer RB., Emanuel BS.: Complex karyotypes in a series of pediatric osteosarcomas. Cancer Genetics & Cytogenetics 38(1): 89-100, Mar 1989.

1988

Muenke, M., Emanuel, B.S., Zackai, E.H.: : Holoprosencephaly: Association with interstitial deletion of 2p and review of the cytogenetic literature.   Am. J. Med. Genet.  30: 929-938, 1988.

Donnenfeld, A.E., McDonald, D.M., Emanuel, B.S., Zackai, E.H.: Partial monosomy 9p and partial trisomy 16q in a liveborn female.    Karyogram  14:12-14, 1988. 14: 12-14, 1988.

Biegel JA., Belasco JB., Emanuel BS.: A unique chromosome translocation, t(7;15), in a pediatric patient with pre-B-cell lymphoma presenting as a primary tumor of bone. Cancer Genetics & Cytogenetics 36(2): 211-5, Dec 1988.

Bauer SR., Huebner K., Budarf M., Finan J., Erikson J., Emanuel BS., Nowell PC., Croce CM., Melchers F.: The human Vpre B gene is located on chromosome 22 near a cluster of V lambda gene segments. Immunogenetics 28(5): 328-33, 1988.

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

Munke M., Page DC., Brown LG., Armson BA., Zackai EH., Mennuti MT., Emanuel BS.: Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male. Human Genetics 80(3): 219-23, Nov 1988.

Budarf M., Canaani E., Emanuel BS.: Linear order of the four BCR-related loci in 22q11. Genomics 3(2): 168-71, Aug 1988.

Sosnoski DM., Emanuel BS., Hawkins AL., van Tuinen P., Ledbetter DH., Nussbaum RL., Kaos FT., Schwartz E., Phillips D., Bennett JS., et al.: Chromosomal localization of the genes for the vitronectin and fibronectin receptors alpha subunits and for platelet glycoproteins IIb and IIIa. Journal of Clinical Investigation 81(6): 1993-8, Jun 1988.

Gibas Z., Griffin CA., Emanuel BS.: Clonal chromosome rearrangements in a uterine myoma. Cancer Genetics & Cytogenetics 32(1): 19-24, May 1988.

Smith M., Weiss MJ., Griffin CA., Murray JC., Buetow KH., Emanuel BS., Henthorn PS., Harris H.: Regional assignment of the gene for human liver/bone/kidney alkaline phosphatase to chromosome 1p36.1-p34. Genomics 2(2): 139-43, Feb 1988.

Gorski JL., Kistenmacher ML., Punnett HH., Zackai EH., Emanuel BS.: Reproductive risks for carriers of complex chromosome rearrangements: analysis of 25 families. American Journal of Medical Genetics 29(2): 247-61, Feb 1988.

Griffin CA., Hawkins AL., Packer RJ., Rorke LB., Emanuel BS.: Chromosome abnormalities in pediatric brain tumors. Cancer Research 48(1): 175-80, Jan 1 1988.

1987

Myers, J.C., Emanuel, B.S.: Chromosomal localization of human collagen genes. Collagen Res.  7: 149-159, 1987.

Lange, B., Valtieri M., Caracciolo, D., Mavilio, F., Gemperlein, I., Griffin, C., Emanuel, B., Finan, J., Nowell, P., Rovera, G.: G: Growth factor requirements of childhood acute leukemia: Establishment of GM-CSF-dependent cell lines.   Blood 70: 192-199, 1987.

Guzzo, C., Weiner, M., Emanuel, B., Rappaport,E., LaRocco, P., Surrey, S., Poncz, M., Schwartz, E.: : An EcoRI polymorphism of a human platelet factor 4 (PF4) gene.   Nucleic Acids Res.   15: 380, 1987.

Griffin CA., Smith M., Henthorn PS., Harris H., Weiss MJ., Raducha M., Emanuel BS.: Human placental and intestinal alkaline phosphatase genes map to 2q34-q37. American Journal of Human Genetics 41(6): 1025-34, Dec 1987.

Griffin CA., Emanuel BS., LaRocco P., Schwartz E., Poncz M.: Human platelet factor 4 gene is mapped to 4q12----q21. Cytogenetics & Cell Genetics 45(2): 67-9, 1987.

Spinner NB., Emanuel BS., Vonderheid EC., Nowell PC.: Chronic myelomonocytic leukemia in a patient with a familial t(6;16)(q13;q22) translocation. Cancer Genetics & Cytogenetics 29(1): 159-64, Nov 1987.

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

Donnenfeld AE., Zackai EH., McDonald DM., Aquino R., Emanuel BS.: De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome. Journal of Medical Genetics 24(7): 436-9, Jul 1987.

Ferrari S., Calabretta B., deRiel JK., Battini R., Ghezzo F., Lauret E., Griffin C., Emanuel BS., Gurrieri F., Baserga R.: Structural and functional analysis of a growth-regulated gene, the human calcyclin. Journal of Biological Chemistry 262(17): 8325-32, Jun 15 1987.

Griffin CA., Emanuel BS.: Translocation (X;18) in a synovial sarcoma. Cancer Genetics & Cytogenetics 26(1): 181-3, May 1987.

Gibas Z., Griffin CA., Emanuel BS.: Trisomy 7 and i(5p) in a transitional cell carcinoma of the ureter. Cancer Genetics & Cytogenetics 25(2): 369-70, Apr 1987.

Griffin CA., Emanuel BS., Hansen JR., Cavenee WK., Myers JC.: Human collagen genes encoding basement membrane alpha 1 (IV) and alpha 2 (IV) chains map to the distal long arm of chromosome 13. Proceedings of the National Academy of Sciences of the United States of America 84(2): 512-6, Jan 1987.

1986

Tripputi, P., Emanuel, B.S., Croce, C.M., Green, L.G., Stein, G.S., Stein, J.L.: Human histone genes map to multiple chromosomes. Proc. Natl. Acad. Sci. USA   83: 3185-3188, 1986.

Tripputi P., Blasi F., Ny T., Emanuel BS., Letosfsky J., Croce CM.: Tissue-type plasminogen activator gene is on chromosome 8. Cytogenetics & Cell Genetics 42(1-2): 24-8, 1986.

Gorski JL., Emanuel BS., Zackai EH., Mennuti M.: Complex chromosomal rearrangement and multiple spontaneous abortions. Human Genetics 74(3): 326, Nov 1986.

Steinberg MH., Gill F., Emanuel BS.: Expression of two G-6-PD genes in an XX phenotypic male. British Journal of Haematology 64(1): 107-10, Sep 1986.

Griffin CA., McKeon C., Israel MA., Gegonne A., Ghysdael J., Stehelin D., Douglass EC., Green AE., Emanuel BS.: Comparison of constitutional and tumor-associated 11;22 translocations: nonidentical breakpoints on chromosomes 11 and 22. Proceedings of the National Academy of Sciences of the United States of America 83(16): 6122-6, Aug 1986.

Huebner K., ar-Rushdi A., Griffin CA., Isobe M., Kozak C., Emanuel BS., Nagarajan L., Cleveland JL., Bonner TI., Goldsborough MD., et al.: Actively transcribed genes in the raf oncogene group, located on the X chromosome in mouse and human. Proceedings of the National Academy of Sciences of the United States of America 83(11): 3934-8, Jun 1986.

Cannizzaro LA., Emanuel BS., Cho KW., Weinmann R.: The gene encoding the large subunit of human RNA polymerase II is located on the short arm of chromosome 17. American Journal of Human Genetics 38(6): 812-8, Jun 1986.

Tripputi P., Emanuel BS., Croce CM., Green LG., Stein GS., Stein JL.: Human histone genes map to multiple chromosomes. Proceedings of the National Academy of Sciences of the United States of America 83(10): 3185-8, May 1986.

Erikson J., Finger L., Sun L., ar-Rushdi A., Nishikura K., Minowada J., Finan J., Emanuel BS., Nowell PC., Croce CM.: Deregulation of c-myc by translocation of the alpha-locus of the T-cell receptor in T-cell leukemias. Science 232(4752): 884-6, May 16 1986.

Conley ME., Spinner NB., Emanuel BS., Nowell PC., Nichols WW.: A chromosomal breakage syndrome with profound immunodeficiency. Blood 67(5): 1251-6, May 1986.

Lin AE., Bernar J., Chin AJ., Sparkes RS., Emanuel BS., Zackai EH.: Congenital heart disease in supernumerary der(22),t(11;22) syndrome. Clinical Genetics 29(4): 269-75, Apr 1986.

Saglio G., Emanuel BS., Guerrasio A., Giubellino MC., Serra A., Lusso P., Cambrin GR., Mazza U., Malavasi F., Pegoraro L., et al.: 3' c-myc rearrangement in a human leukemic T-cell line. Cancer Research 46(3): 1413-7, Mar 1986.

Isobe M., Emanuel BS., Givol D., Oren M., Croce CM.: Localization of gene for human p53 tumour antigen to band 17p13. Nature 320(6057): 84-5, Mar 6-12 1986.

Erikson J., Griffin CA., ar-Rushdi A., Valtieri M., Hoxie J., Finan J., Emanuel BS., Rovera G., Nowell PC., Croce CM.: Heterogeneity of chromosome 22 breakpoint in Philadelphia-positive (Ph+) acute lymphocytic leukemia. Proceedings of the National Academy of Sciences of the United States of America 83(6): 1807-11, Mar 1986.

Emanuel BS., Sellinger BT., Gudas LJ., Myers JC.: Localization of the human procollagen alpha 1(IV) gene to chromosome 13q34 by in situ hybridization. American Journal of Human Genetics 38(1): 38-44, Jan 1986.

Emanuel BS., Nowell PC., McKeon C., Croce CM., Israel MA.: Translocation breakpoint mapping: molecular and cytogenetic studies of chromosome 22. Cancer Genetics & Cytogenetics 19(1-2): 81-92, Jan 1 1986.

1985

Nowell PC., Emanuel BS., Finan JB., Erikson J., Croce CM.: Chromosome alterations in oncogenesis. Haematology & Blood Transfusion 29: 253-60, 1985.

Cannizzaro LA., Emanuel BS.: In situ hybridization and translocation breakpoint mapping. III. DiGeorge syndrome with partial monosomy of chromosome 22. Cytogenetics & Cell Genetics 39(3): 179-83, 1985.

Cannizzaro LA., Aronson MM., Emanuel BS.: In situ hybridization and translocation breakpoint mapping. II. Two unusual t(21;22) translocations. Cytogenetics & Cell Genetics 39(3): 173-8, 1985.

Cannizzaro LA., Nowell PC., Belasco JB., Croce CM., Emanuel BS.: The breakpoint in 22q11 in a case of Ph-positive acute lymphocytic leukemia interrupts the immunoglobulin light chain gene cluster. Cancer Genetics & Cytogenetics 18(2): 173-7, Oct 1985.

Emanuel BS., Cannizzaro L., Ornstein-Goldstein N., Indik ZK., Yoon K., May M., Oliver L., Boyd C., Rosenbloom J.: Chromosomal localization of the human elastin gene. American Journal of Human Genetics 37(5): 873-82, Sep 1985.

Tripputi P., Blasi F., Verde P., Cannizzaro LA., Emanuel BS., Croce CM.: Human urokinase gene is located on the long arm of chromosome 10. Proceedings of the National Academy of Sciences of the United States of America 82(13): 4448-52, Jul 1985.

Emanuel BS., Balaban G., Boyd JP., Grossman A., Negishi M., Parmiter A., Glick MC.: N-myc amplification in multiple homogeneously staining regions in two human neuroblastomas. Proceedings of the National Academy of Sciences of the United States of America 82(11): 3736-40, Jun 1985.

Isobe M., Erikson J., Emanuel BS., Nowell PC., Croce CM.: Location of gene for beta subunit of human T-cell receptor at band 7q35, a region prone to rearrangements in T cells. Science 228(4699): 580-2, May 3 1985.

Emanuel BS., Cannizzaro LA., Seyer JM., Myers JC.: Human alpha 1(III) and alpha 2(V) procollagen genes are located on the long arm of chromosome 2. Proceedings of the National Academy of Sciences of the United States of America 82(10): 3385-9, May 1985.

Emanuel BS., Cannizzaro LA., Magrath I., Tsujimoto Y., Nowell PC., Croce CM.: Chromosomal orientation of the lambda light chain locus: V lambda is proximal to C lambda in 22q11. Nucleic Acids Research 13(2): 381-7, Jan 25 1985.

1984

Nowell, P.C., Bergman, G., Besa, E., Wilmoth, D., Emanuel, B.:  : Progressive preleukemia with a chromosomally abnormal clone in a kindred with the Estren-Damescheck variant of Fanconi's anemia. Blood  641: 1135-1138, 1984.

Nowell, P., Besa, E., Emanuel, B., Pathak, S., Finan, J.: : Two adult siblings with thrombocytopenia and a familial 13;14 translocation.   Cancer Genet. Cytogenet. 11: 169-174, 1984.

Green, L., Van Antwerpen, R., Stein, J., Stein, G., Tripputi, P., Emanuel, B., Selden, J., Croce, C.:  : A major human histone gene cluster on the long arm of chromosome 1.   Science 226: 838-840, 1984.

Emanuel BS., Selden JR., Wang E., Nowell PC., Croce CM.: In situ hybridization and translocation breakpoint mapping. I. Nonidentical 22q11 breakpoints for the t(9;22) of CML and the t(8;22) of Burkitt lymphoma. Cytogenetics & Cell Genetics 38(2): 127-31, 1984.

Cannizzaro LA., Emanuel BS.: An improved method for G-banding chromosomes after in situ hybridization. Cytogenetics & Cell Genetics 38(4): 308-9, 1984.

Pegoraro L., Palumbo A., Erikson J., Falda M., Giovanazzo B., Emanuel BS., Rovera G., Nowell PC., Croce CM.: A 14;18 and an 8;14 chromosome translocation in a cell line derived from an acute B-cell leukemia. Proceedings of the National Academy of Sciences of the United States of America 81(22): 7166-70, Nov 1984.

Rohn RD., Leffell MS., Leadem P., Johnson D., Rubio T., Emanuel BS.: Familial third-fourth pharyngeal pouch syndrome with apparent autosomal dominant transmission. Journal of Pediatrics 105(1): 47-51, Jul 1984.

Dayton AI., Selden JR., Laws G., Dorney DJ., Finan J., Tripputi P., Emanuel BS., Rovera G., Nowell PC., Croce CM.: A human c-erbA oncogene homologue is closely proximal to the chromosome 17 breakpoint in acute promyelocytic leukemia. Proceedings of the National Academy of Sciences of the United States of America 81(14): 4495-9, Jul 1984.

Emanuel BS., Selden JR., Wang E., Nowell PC., Croce CM.: In situ hybridization and translocation breakpoint mapping. I. Nonidentical 22q11 breakpoints for the t(9;22) of CML and the t(8;22) of Burkitt lymphoma. Cytogenetics & Cell Genetics 38(2): 127-31, 1984.

Cannizzaro LA., Emanuel BS.: An improved method for G-banding chromosomes after in situ hybridization. Cytogenetics & Cell Genetics 38(4): 308-9, 1984.

Pegoraro L., Palumbo A., Erikson J., Falda M., Giovanazzo B., Emanuel BS., Rovera G., Nowell PC., Croce CM.: A 14;18 and an 8;14 chromosome translocation in a cell line derived from an acute B-cell leukemia. Proceedings of the National Academy of Sciences of the United States of America 81(22): 7166-70, Nov 1984.

Rohn RD., Leffell MS., Leadem P., Johnson D., Rubio T., Emanuel BS.: Familial third-fourth pharyngeal pouch syndrome with apparent autosomal dominant transmission. Journal of Pediatrics 105(1): 47-51, Jul 1984.

Dayton AI., Selden JR., Laws G., Dorney DJ., Finan J., Tripputi P., Emanuel BS., Rovera G., Nowell PC., Croce CM.: A human c-erbA oncogene homologue is closely proximal to the chromosome 17 breakpoint in acute promyelocytic leukemia. Proceedings of the National Academy of Sciences of the United States of America 81(14): 4495-9, Jul 1984.

Emanuel BS., Selden JR., Chaganti RS., Jhanwar S., Nowell PC., Croce CM.: The 2p breakpoint of a 2;8 translocation in Burkitt lymphoma interrupts the V kappa locus. Proceedings of the National Academy of Sciences of the United States of America 81(8): 2444-6, Apr 1984.

Steinberg C., Zackai EH., Eunpu DL., Mennuti MT., Emanuel BS.: 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 WS., Mennuti MT., Emanuel BS., Zackai EH.: Prenatal diagnosis of mosaicism 46,XX/46,XX,-21,+t(21q21q). Prenatal Diagnosis 4(1): 73-7, Jan-Feb 1984.

1983

Selden JR., Emanuel BS., Wang E., Cannizzaro L., Palumbo A., Erikson J., Nowell PC., Rovera G., Croce CM.: Amplified C lambda and c-abl genes are on the same marker chromosome in K562 leukemia cells. Proceedings of the National Academy of Sciences of the United States of America 80(23): 7289-92, Dec 1983.

Nowell P., Finan J., Dalla-Favera R., Gallo RC., ar-Rushdi A., Romanczuk H., Selden JR., Emanuel BS., Rovera G., Croce CM.: Association of amplified oncogene c-myc with an abnormally banded chromosome 8 in a human leukaemia cell line. Nature 306(5942): 494-7, Dec 1-7 1983.

Erickson, J., Nishikura, K., ar-Rushdi, A., Finan, J., Emanuel, B., Lenior, G., Nowell, P., Croce, C.: Translocation of an immunoglobulin kappa locus to a region 3' of an unrearranged c-myc oncogene enhances c-myc transcription.   Proc. Natl. Acad. Sci. USA  80: 7581-7585, 1983.

Emanuel BS., Zackai EH., Tucker SH.: 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.

1982

Kelley RI., Zackai EH., Emanuel BS., Kistenmacher M., Greenberg F., Punnett HH.: The association of the DiGeorge anomalad with partial monosomy of chromosome 22. Journal of Pediatrics 101(2): 197-200, Aug 1982.

1981

Mitchell, J., Packman, S., Loughman, W., Fineman, R., Zackai, E.H., Patil, S., Emanuel B., Bartley, Hansen J.: Deletions of different segments of the long arm of chromosome 4.   Am. J. Med. Genet. 8: 74-89, 1981.

Cassorla FG., Emanuel BS., Parks JS., Wu CH., Wheeler JE., Tenore A.: Cytogenetic and endocrine findings in a female with 45,X,t(y;18) (p11;p11). Clinical Genetics 19(5): 312-20, May 1981.

1980

Zackai EH., Emanuel BS.: 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

Spritz RA., Emanuel BS., Chern CJ., Mellman WJ.: Gene dosage effect: intraband mapping of human soluble glutamic oxaloacetic transaminase. Cytogenetics & Cell Genetics 23(3): 149-56, 1979.

Hutchinson N., Kazic T., Lee SJ., Rayssiguier C., Emanuel BS., Kozinski AW.: Late replication and recombination in the vegetative pool of T4. Cold Spring Harbor Symposia on Quantitative Biology 43 Pt 1: 517-23, 1979.

Emanuel BS., Zackai EH., Van Dyke DC., Swallow DM., Allen FH., Mellman WJ.: Deletion mapping: further evidence for the location of acid phosphatase (ACP1) within 2p23. American Journal of Medical Genetics 4(2): 167-72, 1979.

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

1978

Emanuel, B.S.: Compound lateral asymmetry in human chromosome 6: BrdU-dye studies of 6q12-6q14.  Am. J. Hum. Genet.   30: 153-159, 1978.

Emanuel BS., Zackai E., Mellman WJ., Aronson MM., Greene AE., Coriell LL.: A (14;20) balanced translocation, 46, XX. Repository identification No. GM-982. Cytogenetics & Cell Genetics 21(3): 174, 1978.

Emanuel BS., Zackai E., Mellman WJ., Aronson MM., Greene AE., Coriell LL.: A (14;20) translocation, unbalanced, from a subject with severe congenital anomalies. Repository identification No. GM-981. Cytogenetics & Cell Genetics 21(3): 173, 1978.

1977

Emanuel, B., Zackai, E.H., Mellman, W.J., Aronson, M.M., Greene, A.E., Coriell, L.L.:  : A culture with a derivative chromosome l0 from a paternal (l0;l6) translocation. Cytogenet. Cell Genet. 19: 240, 1977.

Emanuel BS., Zackai EH., Aronson MM., Mellman WJ., Moorhead PS.: Abnormal chromosome 22 and recurrence of trisomy-22 syndrome. Journal of Medical Genetics 13(6): 501-6, Dec 1976.

1973

Emanuel BS.: Replicative hybrid of T4 bacteriophage DNA. Journal of Virology 12(2): 408-12, Aug 1973.

Abstracts

2017

Morrow BE, Emanuel BS, Goldmuntz E: : Developmental mechanisms of human congenital heart disease.   11th Structural Birth Defects Meeting, Bethesda, MD(28), April 3-5 2017.

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, TX, October 26-31, 2015. American Academy of child & Adolescent Psychiatry 62nd Annual Meeting, San Antonia, TX October 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, TX October 26-31 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.  American Society of Human Genetics Annual Meeting, Baltimore, MD October 2015.

Guo T, Chung J, McDonald-Mcginn D, Kates W, Wang T, Emanuel B, Morrow B : Second Second-hit Mutatins in known CHDs Causative genes in 22q11DS Patients with Conotruncal Heart Defects by Whole Exome Sequencing. American Society of Human Genetics Annual Meeting, Baltimore, MD October 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 May 16, Toronto, Canada May 16-17 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 Congenital Heart Defects Loci Identified by Genome Wide Association in 22q11DS Patients.  Winstein Conference, Boston, MA May  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. Winstein Conference, Boston, MA May  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.  Society For Developmental Biology, Northeast Regional Meeting Woods Hole, MA April 10-12 2015.

Books

Chapters

2006

Spinner, N.B. Saitta, S. and Emanuel, B.S. : Deletions and Other Abnormalities of the Autosomes.    In Emery and Rimoin's Principles and Practice of Medical Genetics. Fifth Edition. Ed. by Rimoin D.L., Conner, J.M., Pyeritz, R.E. and Emery, A.E.H. (eds.). Churchill Livingstone.  2006.

2005

Emanuel, B.S., Goldmuntz, E., Budarf, M.L., Shaikh, T., McGrath, J., McDonald-McGinn, D., Zackai, E.H., 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: pp. 335-339, 2005.

2003

Emanuel, B.S. and Shaikh, T.H.: : Segmental Duplications and Genetic Disease.   In: Encyclopedia of the Human Genome.  Macmillan Publishers Ltd., Nature Publishing Group.  Page: pp. 1-6, 2003

2002

Emanuel, B.S. and Shaikh, T.H.: Chromosome 22.    In: Encyclopedia of the Human Genome.  Macmillan Publishers Ltd., Nature Publishing Grop, 2002.

2001

Spinner, N.B. and Emanuel, B.S.: Deletions and Other Abnormalities of the Autosomes.     In Emery and Rimoin's Principles and Practice of Medical Genetics.  Ed. by Rimoin D.L., Conner, J.M., Pyeritz, R.E. and Emery, A.E.H. (eds.). Churchill Livingstone, 2001.

1999

Emanuel, B.S., Budarf, M.L. and Scambler, P.J.: : The Genetic Basis of Conotruncal Cardiac Defects: The Chromosome 22q11.2 Deletion.     In: Heart Development, Harvey, R. and Rosenthal, N. (eds). (eds.). Academic Press, Page: pp. 463-478, 1999.

1998

Driscoll, D.A. and Emanuel, B.S.: : The 22q11 Deletion Syndrome: DiGeorge and Velocardiofacial Syndrome.    Principles of Molecular Medicine. Jameson, J.L. (ed) (eds.). Blackwell Science, Cambridge, MA, Page: .  pp. 1079-1085, 1998.

1997

Emanuel, B.S., Gong, W., Gottlieb, S., Driscoll, D., Budarf, M.L.: : Genetic etiology for cleft palate: chromosome 22q11 deletions.  Transactions, 8th International Congress on Cleft Palate and Related Craniofacial Anomalies, Le, S.T., (ed), Huang, M. (co-ed) (eds.). Page:  pp. 95-102, 1997.

1996

Spinner, N.B. and Emanuel, B.S.: : Deletions and Other Abnormalities of the Autosomes.  In Emery and Rimoin's Principles and Practice of Medical Genetics.  d. by Rimoin D.L., Conner, J.M., Pyeritz, R.E. and Emery, A.E.H. (eds.). E Churchill Livingtone,  Vol. I :  pp. 999-1025, 1996.

1995

Driscoll, D.A., Goldmuntz, E. and Emanuel, B.S.: : Detection of 22q11 deletions in patients with conotruncal cardiac malformations, DiGeorge, velocardiofacial and conotruncal anomaly face syndromes.     In: "Developmental Mechanisms of Heart Disease" ed. Clark, E.B., Markwald, R.R., and Takao, A., (eds.). Futura Publishing Company, Armonk, NY. Chapter 62: 569-575  1995.

1993

Emanuel, B.S., Driscoll, D., Goldmuntz, E., Baldwin, S., Biegel, J., Zackai, E.H., McDonald-McGinn, D., Sellinger, B., Gorman, N., Williams, S., and Budarf, M.L.:  Molecular and phenotypic analysis of the chromosome 22 microdeletion syndromes.      In: "Phenotypic Mapping of Down Syndrome and Other Aneuploid Conditions", ed. Epstein, C.J. (eds.). Wiley Liss, NY, NY. 384: 207-224, 1993

1992

Biegel, J.A., Emanuel, B.S.: : Cytogenetic abnormalities in central nervous system tumors of childhood.      In: Pediatric Neuro-oncology New Trends in Clinical Research. edited by Packer, R.J., Bleyer, A., Pochedly, C. (eds.). Harwood Academic Publishers, Page: 33, 1992.

1986

Nowell, P.C., Emanuel, B.S., and Croce, C.M.: Chromosome and genetic changes in leukemia. Leukocytes and Host Defense.  Alan R. Liss, New York (eds.). Page: 153-156, 1986.

1985

Cicila, G., Yoon, K., Ornstein-Goldstein, N., Indik, Z., Boyd, C., May, M., Cannizzaro, L.A., Emanuel, B.S., and Rosenbloom, J. : Elastin gene structure and function.    In. Extracellular Matrix: Structure and Function. eds. Alan R. Liss, New York,  (eds.). Page: 333-350, 1985.

1975

Emanuel, B.S.: The Chromosome Disorders. An Introduction for Clinicians. Am. J. Hum. Genet. third edition by G.H. Valentine, (eds.). Philadelphia, J.B. Lippincott Company. 29: 114, 1975.

Posters and Presentations

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.

ouders 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 EHJ, 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.

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.

Invited Lectures

2015

"Genetic and Medical Manifestations of the 22q11.2 Deletion Syndrome (22q11DS)" 22q11 Deletion Syndrome Symposium at Sheba Medical Center in Ramat Gan, Israel, Jun, 2015.

Awards and Honors

2007, The Herbert and Esther Bennett Brandwein Award in Genetic Research, University of Connecticut, Department of Genetics & Developmental Biology

2002 & 2003, Member of Gordon Research Conference Council

2001, The Benjamin Franklin Founders Award

1997, Distinguished Lecturer for Distinguished Contributions in Molecular Genetics, Department of Biochemical and Molecular Biology, University of Oklahoma

1997, Distinguished Visiting Professor, Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson University

1996, Ethel Brown Foerderer Fund Fellow for Excellence in the Field of Gene and Disease Mapping

1994, John Morgan Society, University of Pennsylvania

1992, Woman of Achievement, Girl Scouts of Delaware County

1991, Eighth Annual John C. Krantz, Jr. Distinguished Lecture

1962, B.A. with Honors in Biology, University of Pennsylvania

1961, Phi Beta Kappa

Editorial and Academic Positions

Editorial Positions

1997-present, Editorial Board, Journal of Human Genetics
1996-present, Editorial Board, Genetic Testing
1994-present, Editorial Board, Journal of Experimental Zoology
1991-present, Associate Editor, Journal of Experimental Zoology
1989-present, Editorial Board, Genes Chromosomes & Cancer

Academic and Institutional Committees

2013-present, Medical Faculty Senate Steering Committee
2002-present, Graduate Group in Genomics and Computational Biology
2001-present, HUGO Human Genome Mapping Committee
 -2001-present, Elected U.S. Mapping Representative

Leadership and Memberships

Memberships in Professional Organizations

2001-present, American Association for the Advancement of Science
1990-present, American College of Medical Genetics
1980-present, American Society of Human Genetics