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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Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreated
Tang, S. X., Yi, J. J., Calkins, M. E., Whinna, D. A., Kohler, C. G., Souders, M. C., McDonald-McGinn, D. M., Zackai, E. H., Emanuel, B. S., Gur, R. C., Gur, R. E.
Published in Psychological medicine (01.04.2014)
Published in Psychological medicine (01.04.2014)
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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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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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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
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis
Driscoll, D A, Salvin, J, Sellinger, B, Budarf, M L, McDonald-McGinn, D M, Zackai, E H, Emanuel, B S
Published in Journal of medical genetics (01.10.1993)
Published in Journal of medical genetics (01.10.1993)
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The Philadelphia story: the 22q11.2 deletion: report on 250 patients
McDonald-McGinn, D M, Kirschner, R, Goldmuntz, E, Sullivan, K, Eicher, P, Gerdes, M, Moss, E, Solot, C, Wang, P, Jacobs, I, Handler, S, Knightly, C, Heher, K, Wilson, M, Ming, J E, Grace, K, Driscoll, D, Pasquariello, P, Randall, P, Larossa, D, Emanuel, B S, Zackai, E H
Published in Genetic counseling (1999)
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Published in Genetic counseling (1999)
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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
Neurocognitive development in 22q11.2 deletion syndrome: comparison with youth having developmental delay and medical comorbidities
Gur, R E, Yi, J J, McDonald-McGinn, D M, Tang, S X, Calkins, M E, Whinna, D, Souders, M C, Savitt, A, Zackai, E H, Moberg, P J, Emanuel, B S, Gur, R C
Published in Molecular psychiatry (01.11.2014)
Published in Molecular psychiatry (01.11.2014)
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Remote assessment of the Penn computerised neurocognitive battery in individuals with 22q11.2 deletion syndrome
White, L K, Hillman, N, Ruparel, K, Moore, T M, Gallagher, R S, McClellan, E J, Roalf, D R, Scott, J C, Calkins, M E, McGinn, D E, Giunta, V, Tran, O, Crowley, T B, Zackai, E H, Emanuel, B S, McDonald-McGinn, D M, Gur, R E, Gur, R C
Published in Journal of intellectual disability research (01.04.2024)
Published in Journal of intellectual disability research (01.04.2024)
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Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome
Hoffman, J D, Zhang, Y, Greshock, J, Ciprero, K L, Emanuel, B S, Zackai, E H, Weber, B L, Ming, J E
Published in Journal of medical genetics (01.01.2005)
Published in Journal of medical genetics (01.01.2005)
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Chromosome 22q11 deletion in patients with truncus arteriosus
McElhinney, D B, Driscoll, D A, Emanuel, B S, Goldmuntz, E
Published in Pediatric cardiology (01.11.2003)
Published in Pediatric cardiology (01.11.2003)
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Dysphagia in children with a 22q11.2 deletion: Unusual pattern found on modified barium swallow
Eicher, Peggy S., McDonald-McGinn, Donna M., Fox, Catherine A., Driscoll, Deborah A., Emanuel, Beverly S., Zackai, Elaine H.
Published in The Journal of pediatrics (01.08.2000)
Published in The Journal of pediatrics (01.08.2000)
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Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene
CHIEFFO, C, GARVEY, N, GONG, W, ROE, B, ZHANG, G, SILVER, L, EMANUEL, B. S, BUDARF, M. L
Published in Genomics (San Diego, Calif.) (01.08.1997)
Published in Genomics (San Diego, Calif.) (01.08.1997)
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Emergent, remitted and persistent psychosis-spectrum symptoms in 22q11.2 deletion syndrome
Tang, S X, Moore, T M, Calkins, M E, Yi, J J, McDonald-McGinn, D M, Zackai, E H, Emanuel, B S, Gur, R C, Gur, R E
Published in Translational psychiatry (25.07.2017)
Published in Translational psychiatry (25.07.2017)
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