Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreated von 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.

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Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development von Simpson, M.A., Hsu, R., Keir, L.S., Hao, J., Sivapalan, G., Ernst, L.M., Zackai, E.H., Al-Gazali, L.I., Hulskamp, G., Kingston, H.M., Prescott, T.E., Ion, A., Patton, M.A., Murday, V., George, A., Crosby, A.H.

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Association Between Osteosarcoma and Deleterious Mutations in the RECQL4 Gene in Rothmund–Thomson Syndrome von Wang, Lisa L., Gannavarapu, Anu, Kozinetz, Claudia A., Levy, Moise L., Lewis, Richard A., Chintagumpala, Murali M., Ruiz-Maldanado, Ramon, Contreras-Ruiz, Jose, Cunniff, Christopher, Erickson, Robert P., Lev, Dorit, Rogers, Maureen, Zackai, Elaine H., Plon, Sharon E.

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Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2 von Ballif, BC, Theisen, A, McDonald-McGinn, DM, Zackai, EH, Hersh, JH, Bejjani, BA, Shaffer, LG

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Overlapping numerical cognition impairments in children with chromosome 22q11.2 deletion or Turner syndromes von Simon, T.J., Takarae, Y., DeBoer, T., McDonald-McGinn, D.M., Zackai, E.H., Ross, J.L.

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

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Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome : genomic organization and deletion endpoint analysis von 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

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Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly von Muenke, Maximilian, Wallis, Deeann E, Roessler, Erich, Hehr, Ute, Nanni, Luisa, Wiltshire, Tim, Richieri-Costa, Antonio, Gillessen-Kaesbach, Gabriele, Zackai, Elaine H, Rommens, Johanna

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Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion von Boyadjiev, SA, Kim, S-D, Hata, A, Haldeman-Englert, C, Zackai, EH, Naydenov, C, Hamamoto, S, Schekman, RW, Kim, J

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Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes von Bellus, Gary A, Gaudenz, Karin, Zackai, Elaine H, Clarke, Lome A, Szabo, Jinny, Francomano, Clair A, Muenke, Maximilian

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Frequency of 22q11 deletions in patients with conotruncal defects von 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

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Neurocognitive development in 22q11.2 deletion syndrome: comparison with youth having developmental delay and medical comorbidities von 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

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Anatomic Malformations of the Middle and Inner Ear in 22q11.2 Deletion Syndrome: Case Series and Literature Review von Verheij, E, Elden, L, Crowley, T B, Pameijer, F A, Zackai, E H, McDonald-McGinn, D M, Thomeer, H G X M

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Prognostic signs in the surgical management of plexiform neurofibroma: The Children’s Hospital of Philadelphia experience, 1974-1994 von Needle, Michael N., Cnaan, Avital, Dattilo, James, Chatten, Jane, Phillips, Peter C., Shochat, Stephen, Sutton, Leslie N., Vaughan, Sheila N., Zackai, Elaine H., Zhao, Huaqing, Molloy, Patricia T.

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Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern von 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.

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Remote assessment of the Penn computerised neurocognitive battery in individuals with 22q11.2 deletion syndrome von 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

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De Novo Alu-Element Insertions in FGFR2 Identify a Distinct Pathological Basis for Apert Syndrome von 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.

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Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis von Driscoll, D A, Salvin, J, Sellinger, B, Budarf, M L, McDonald-McGinn, D M, Zackai, E H, Emanuel, B S

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A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome von 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

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Incidental radiologic findings in the 22q11.2 deletion syndrome von 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

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