A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium
Gur, R E, Bassett, A S, McDonald-McGinn, D M, Bearden, C E, Chow, E, Emanuel, B S, Owen, M, Swillen, A, Van den Bree, M, Vermeesch, J, Vorstman, J A S, Warren, S, Lehner, T, Morrow, B
Published in Molecular psychiatry (01.12.2017)
Published in Molecular psychiatry (01.12.2017)
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Journal Article
Autism Spectrum Disorders and Symptoms in Children with Molecularly Confirmed 22q11.2 Deletion Syndrome
Fine, Sarah E, Weissman, Alison, Gerdes, Marsha, Pinto-Martin, Jennifer, Zackai, Elaine H, McDonald-McGinn, Donna M, Emanuel, Beverly S
Published in Journal of autism and developmental disorders (01.08.2005)
Published in Journal of autism and developmental disorders (01.08.2005)
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Journal Article
The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements
Kurahashi, H, Inagaki, H, Ohye, T, Kogo, H, Tsutsumi, M, Kato, T, Tong, M, Emanuel, BS
Published in Clinical genetics (01.10.2010)
Published in Clinical genetics (01.10.2010)
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A double hit implicates DIAPH3 as an autism risk gene
VORSTMAN, Jas, VAN DAALEN, E, BURBACH, Jph, KAHN, R. S, EMANUEL, B. S, VAN ENGELAND, H, OPHOFF, R. A, JALALI, G. R, SCHMIDT, Ere, PASTERKAMP, R. J, DE JONGE, M, HENNEKAM, Eam, JANSON, E, STAAL, W. G, VAN DER ZWAAG, B
Published in Molecular psychiatry (01.04.2011)
Published in Molecular psychiatry (01.04.2011)
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High-Resolution Mapping of DNA Copy Alterations in Human Chromosome 22 Using High-Density Tiling Oligonucleotide Arrays
Urban, Alexander Eckehart, Korbel, Jan O., Selzer, Rebecca, Richmond, Todd, Hacker, April, Popescu, George V., Cubells, Joseph F., Green, Roland, Emanuel, Beverly S., Gerstein, Mark B., Weissman, Sherman M., Snyder, Michael
Published in Proceedings of the National Academy of Sciences - PNAS (21.03.2006)
Published in Proceedings of the National Academy of Sciences - PNAS (21.03.2006)
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Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome : genomic organization and deletion endpoint analysis
SHAIKH, T. H, KURAHASHI, H, EMANUEL, B. S, SAITTA, S. C, O'HARE, A. M, PING HU, ROE, B. A, DRISCOLL, D. A, MCDONALD-MCGINN, D. M, ZACKAI, E. H, BUDARF, M. L
Published in Human molecular genetics (01.03.2000)
Published in Human molecular genetics (01.03.2000)
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Cruciform DNA Structure Underlies the Etiology for Palindrome-mediated Human Chromosomal Translocations
Kurahashi, Hiroki, Inagaki, Hidehito, Yamada, Kouji, Ohye, Tamae, Taniguchi, Mariko, Emanuel, Beverly S, Toda, Tatsushi
Published in The Journal of biological chemistry (20.08.2004)
Published in The Journal of biological chemistry (20.08.2004)
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Journal Article
Effects of a Functional COMT Polymorphism on Prefrontal Cognitive Function in Patients With 22q11.2 Deletion Syndrome
Bearden, Carrie E., Jawad, Abbas F., Lynch, David R., Sokol, Set, Kanes, Steven J., McDonald-McGinn, Donna M., Saitta, Sulagna C., Harris, Stacy E., Moss, Edward, Wang, Paul P., Zackai, Elaine, Emanuel, Beverly S., Simon, Tony J.
Published in The American journal of psychiatry (01.09.2004)
Published in The American journal of psychiatry (01.09.2004)
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Journal Article
Frequency of 22q11 deletions in patients with conotruncal defects
Goldmuntz, Elizabeth, Clark, Bernard J, Mitchell, Laura E, Jawad, Abbas F, Cuneo, Bettina F, Reed, Lori, McDonald-McGinn, Donna, Chien, Peggy, Feuer, Jennifer, Zackai, Elaine H, Emanuel, Beverly S, Driscoll, Deborah A
Published in Journal of the American College of Cardiology (01.08.1998)
Published in Journal of the American College of Cardiology (01.08.1998)
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Journal Article
Genetic Variation Affects de Novo Translocation Frequency
Kato, Takema, Inagaki, Hidehito, Yamada, Kouji, Kogo, Hiroshi, Ohye, Tamae, Kowa, Hiroe, Nagaoka, Kayuri, Taniguchi, Mariko, Emanuel, Beverly S, Kurahashi, Hiroki
Published in Science (American Association for the Advancement of Science) (17.02.2006)
Published in Science (American Association for the Advancement of Science) (17.02.2006)
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Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net
Mcdonald-Mcginn, Donna M, Tonnesen, Melissa K, Laufer-Cahana, Ayala, Finucane, Brenda, Driscoll, Deborah A, Emanuel, Beverly S, Zackai, Elaine H
Published in Genetics in medicine (01.01.2001)
Published in Genetics in medicine (01.01.2001)
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Journal Article
Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion
Saitta, Sulagna C., Harris, Stacy E., Gaeth, Ann P., Driscoll, Deborah A., McDonald-McGinn, Donna M., Maisenbacher, Melissa K., Yersak, Jill M., Chakraborty, Prabir K., Hacker, April M., Zackai, Elaine H., Ashley, Terry, Emanuel, Beverly S.
Published in Human molecular genetics (15.02.2004)
Published in Human molecular genetics (15.02.2004)
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Journal Article
Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern
Moss, Edward M., Batshaw, Mark L., Solot, Cynthia B., Gerdes, Marsha, McDonald-McGinn, Donna M., Driscoll, Deborah A., Emanuel, Beverly S., Zackai, Elaine H., Wang, Paul P.
Published in The Journal of pediatrics (01.02.1999)
Published in The Journal of pediatrics (01.02.1999)
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Journal Article
Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies
McElhinney, Doff B, Driscoll, Deborah A, Levin, Elissa R, Jawad, Abbas F, Emanuel, Beverly S, Goldmuntz, Elizabeth
Published in Pediatrics (Evanston) (01.12.2003)
Published in Pediatrics (Evanston) (01.12.2003)
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Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma
Galili, Naomi, Davis, Richard J, Fredericks, William J, Mukhopadhyay, Sunil, Rauscher, Frank J, Emanuel, Beverly S, Rovera, Giovanni, Barr, Frederic G
Published in Nature genetics (01.11.1993)
Published in Nature genetics (01.11.1993)
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