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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Journal Article
Clinical experience with single‐nucleotide polymorphism‐based non‐invasive prenatal screening for 22q11.2 deletion syndrome
Gross, S. J., Stosic, M., McDonald‐McGinn, D. M., Bassett, A. S., Norvez, A., Dhamankar, R., Kobara, K., Kirkizlar, E., Zimmermann, B., Wayham, N., Babiarz, J. E., Ryan, A., Jinnett, K. N., Demko, Z., Benn, P.
Published in Ultrasound in obstetrics & gynecology (01.02.2016)
Published in Ultrasound in obstetrics & gynecology (01.02.2016)
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Journal Article
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
An online survey to understand the needs of caregivers of family members with 22q11 deletion syndrome
Cosman, T., Finless, A., Rideout, A. L., Lingley‐Pottie, P., Palmer, L. D., Shugar, A., McDonald‐McGinn, D. M., Swillen, A., McGrath, P. J., Bassett, A. S., Cytrynbaum, C., Orr, M., Meier, S.
Published in Journal of intellectual disability research (01.09.2023)
Published in Journal of intellectual disability research (01.09.2023)
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Journal Article
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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Journal Article
A model for classification of invasive fungal rhinosinusitis by computed tomography
Slonimsky, Guy, McGinn, Johnathan D, Goyal, Neerav, Crist, Henry, Hennessy, Max, Gagnon, Eric, Slonimsky, Einat
Published in Scientific reports (28.07.2020)
Published in Scientific reports (28.07.2020)
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Journal Article
The COVID‐19 pandemic's impact on worry and medical disruptions reported by individuals with chromosome 22q11.2 copy number variants and their caregivers
White, L. K., Crowley, T. B., Finucane, B., Garcia‐Minaur, S., Repetto, G. M., Bree, M., Fischer, M., Jacquemont, S., Barzilay, R., Maillard, A. M., Donald, K. A., Gur, R. E., Bassett, A. S., Swillen, A., McDonald‐McGinn, D. M.
Published in Journal of intellectual disability research (01.04.2022)
Published in Journal of intellectual disability research (01.04.2022)
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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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Journal Article
Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2
Ballif, BC, Theisen, A, McDonald-McGinn, DM, Zackai, EH, Hersh, JH, Bejjani, BA, Shaffer, LG
Published in Clinical genetics (01.11.2008)
Published in Clinical genetics (01.11.2008)
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Journal Article
Anatomic Malformations of the Middle and Inner Ear in 22q11.2 Deletion Syndrome: Case Series and Literature Review
Verheij, E, Elden, L, Crowley, T B, Pameijer, F A, Zackai, E H, McDonald-McGinn, D M, Thomeer, H G X M
Published in American journal of neuroradiology : AJNR (01.05.2018)
Published in American journal of neuroradiology : AJNR (01.05.2018)
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Journal Article
Overlapping numerical cognition impairments in children with chromosome 22q11.2 deletion or Turner syndromes
Simon, T.J., Takarae, Y., DeBoer, T., McDonald-McGinn, D.M., Zackai, E.H., Ross, J.L.
Published in Neuropsychologia (01.01.2008)
Published in Neuropsychologia (01.01.2008)
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Journal Article
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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Journal Article
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
Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects
Gong, Weilong, Gottlieb, Shoshanna, Collins, Joelle, Blescia, Adam, Dietz, Harry, Goldmuntz, Elizabeth, McDonald-McGinn, Donna M, Zackai, Elaine H, Emanuel, Beverly S, Driscoll, Deborah A, Budarf, Marcia L
Published in Journal of medical genetics (01.12.2001)
Published in Journal of medical genetics (01.12.2001)
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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
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome
Wieland, I, Weidner, C, Ciccone, R, Lapi, E, McDonald-McGinn, D, Kress, W, Jakubiczka, S, Collmann, H, Zuffardi, O, Zackai, E, Wieacker, P
Published in Clinical genetics (01.12.2007)
Published in Clinical genetics (01.12.2007)
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Journal Article
De Novo Alu-Element Insertions in FGFR2 Identify a Distinct Pathological Basis for Apert Syndrome
Oldridge, Michael, Zackai, Elaine H., McDonald-McGinn, Donna M., Iseki, Sachiko, Morriss-Kay, Gillian M., Twigg, Stephen R.F., Johnson, David, Wall, Steven A., Jiang, Wen, Theda, Christiane, Jabs, Ethylin Wang, Wilkie, Andrew O.M.
Published in American journal of human genetics (01.02.1999)
Published in American journal of human genetics (01.02.1999)
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Journal Article
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome
MUENKE, M, GRIPP, K. W, LOSKEN, H. W, MULLIKEN, J. B, GUTTMACHER, A. E, WILROY, R. S, CLARKE, L. A, HOLLWAY, G, ADES, L. C, HAAN, E. A, MULLEY, J. C, COHEN, M. M, MCDONALD-MCGINN, D. M, BELLUS, G. A, FRANCOMANO, C. A, MOLONEY, D. M, WALL, S. A, WILKIE, A. O. M, ZACKAI, E. H, GAUDENZ, K, WHITAKER, L. A, BARTLETT, S. P, MARKOWITZ, R. I, ROBIN, N. H, NWOKORO, N, MULVIHILL, J. J
Published in American journal of human genetics (01.03.1997)
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Published in American journal of human genetics (01.03.1997)
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