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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Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems von Sahoo, Trilochan, Theisen, Aaron, Rosenfeld, Jill A, Lamb, Allen N, Ravnan, J Britt, Schultz, Roger A, Torchia, Beth S, Neill, Nicholas, Casci, Ian, Bejjani, Bassem A, Shaffer, Lisa G

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The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome von Shaffer, Lisa G, Theisen, Aaron, Bejjani, Bassem A, Ballif, Blake C, Aylsworth, Arthur S, Lim, Cynthia, McDonald, Marie, Ellison, Jay W, Kostiner, Dana, Saitta, Sulagna, Shaikh, Tamim

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Medical applications of array CGH and the transformation of clinical cytogenetics von Shaffer, L.G., Bejjani, B.A.

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Expanding the phenotype of alveolar capillary dysplasia (ACD) von Sen, Partha, Thakur, Nivedita, Stockton, David W., Langston, Claire, Bejjani, Bassem A.

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Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: Is less more? von Bejjani, Bassem A., Saleki, Reza, Ballif, Blake C., Rorem, Emily A., Sundin, Kyle, Theisen, Aaron, Kashork, Catherine D., Shaffer, Lisa G.

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Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus von BEJJANI, B. A, STOCKTON, D. W, LEWIS, R. A, TOMEY, K. F, DUEKER, D. K, JABAK, M, ASTLE, W. F, LUPSKI, J. R

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A cytogeneticist’s perspective on genomic microarrays von Shaffer, Lisa G., Bejjani, Bassem A.

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Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations von Rosenfeld, Jill A, Leppig, Kathleen, Ballif, Blake C, Thiese, Heidi, Erdie-Lalena, Christine, Bawle, Erwati, Sastry, Sujatha, Spence, J Edward, Bandholz, Anne, Surti, Urvashi, Zonana, Jonathan, Keller, Kory, Meschino, Wendy, Bejjani, Bassem A, Torchia, Beth S, Shaffer, Lisa G

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Immunolocalization of CYP1B1 in normal, human, fetal and adult eyes von Doshi, Manali, Marcus, Craig, Bejjani, Bassem A., Edward, Deepak P.

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A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort von Putcha, Girish V, Bejjani, Bassem A, Bleoo, Stacey, Booker, Jessica K, Carey, John C, Carson, Nancy, Das, Soma, Dempsey, Melissa A, Gastier-Foster, Julie M, Greinwald, Jr, John H, Hoffmann, Marcy L, Jeng, Linda Jo Bone, Kenna, Margaret A, Khababa, Ishrag, Lilley, Margaret, Mao, Rong, Muralidharan, Kasinathan, Otani, Iris M, Rehm, Heidi L, Schaefer, Fred, Seltzer, William K, Spector, Elaine B, Springer, Michelle A, Weck, Karen E, Wenstrup, Richard J, Withrow, Stacey, Wu, Bai-Lin, Zariwala, Maimoona A, Schrijver, Iris

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Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH von Adams, Sara Anne, Coppinger, Justine, Saitta, Sulagna C, Stroud, Tracy, Kandamurugu, Manikum, Fan, Zheng, Ballif, Blake C, Shaffer, Lisa G, Bejjani, Bassem A

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Heterozygous and Homozygous Mutations in PITX3 in a Large Lebanese Family with Posterior Polar Cataracts and Neurodevelopmental Abnormalities von Bidinost, Carla, Matsumoto, Masayuki, Chung, Daniel, Salem, Nabiha, Zhang, Kang, Stockton, David W, Khoury, Antoine, Megarbane, Andre, Bejjani, Bassem A, Traboulsi, Elias I

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Mutations in CYP1B1, the Gene for Cytochrome P4501B1, Are the Predominant Cause of Primary Congenital Glaucoma in Saudi Arabia von Bejjani, Bassem A., Lewis, Richard Alan, Tomey, Karim F., Anderson, Kent L., Dueker, David K., Jabak, Monzer, Astle, William F., Otterud, Brith, Leppert, Mark, Lupski, James R.

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Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus von Karolak, Justyna A, Kulinska, Karolina, Nowak, Dorota M, Pitarque, Jose A, Molinari, Andrea, Rydzanicz, Malgorzata, Bejjani, Bassem A, Gajecka, Marzena

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Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions von Yu, Wei, Ballif, Blake C., Kashork, Catherine D., Heilstedt, Heidi A., Howard, Leslie A., Cai, Wei-Wen, White, Lisa D., Liu, Wenbin, Beaudet, Arthur L., Bejjani, Bassem A., Shaw, Chad A., Shaffer, Lisa G.

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Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2 von Alliman, S, Coppinger, J, Marcadier, J, Thiese, H, Brock, P, Shafer, S, Weaver, C, Asamoah, A, Leppig, K, Dyack, S, Morash, B, Schultz, R, Torchia, BS, Lamb, AN, Bejjani, BA

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The Use of Microarray Technology for Cytogenetics von Bejjani, Bassem A., Shaffer, Lisa G., Ballif, Blake C.

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Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization von Ballif, Blake C., Kashork, Catherine D., Saleki, Reza, Rorem, Emily, Sundin, Kyle, Bejjani, Bassem A., Shaffer, Lisa G.

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Analysis of lincRNA at 13q32 keratoconus locus von KAROLAK, JA, NOWAK, DM, MOLINARI, A, PITARQUE, JA, BEJJANI, BA, GAJECKA, M

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