Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2 von Shaffer, Lisa G, Ballif, Blake C, Hornor, Sara A, Jenkins, Elizabeth, Madan-Khetarpal, Suneeta, Surti, Urvashi, Jackson, Kelly E, Asamoah, Alexander, Brock, Pamela L, Gowans, Gordon C, Conway, Robert L, Graham, John M, Medne, Livija, Zackai, Elaine H, Shaikh, Tamim H, Geoghegan, Joel, Selzer, Rebecca R, Eis, Peggy S, Bejjani, Bassem A

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Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases von Shaffer, Lisa G., Kashork, Catherine D., Saleki, Reza, Rorem, Emily, Sundin, Kyle, Ballif, Blake C., Bejjani, Bassem A.

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Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targ... von Coppinger, Justine, Alliman, Sarah, Lamb, Allen N., Torchia, Beth S., Bejjani, Bassem A., Shaffer, Lisa G.

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Localization of a Gene for Keratoconus to a 5.6-Mb Interval on 13q32 von Gajecka, Marzena, Radhakrishna, Uppala, Winters, Daniel, Nath, Swapan K, Rydzanicz, Malgorzata, Ratnamala, Uppala, Ewing, Kimberly, Molinari, Andrea, Pitarque, Jose A, Lee, Kwanghyuk, Leal, Suzanne M, Bejjani, Bassem A

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Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders von Rosenfeld, Jill A., Ballif, Blake C., Torchia, Beth S., Sahoo, Trilochan, Ravnan, J. Britt, Schultz, Roger, Lamb, Allen, Bejjani, Bassem A., Shaffer, Lisa G.

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Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus von CZUGALA, Marta, KAROLAK, Justyna A, GAJECKA, Marzena, NOWAK, Dorota M, POLAKOWSKI, Piotr, PITARQUE, Jose, MOLINARI, Andrea, RYDZANICZ, Malgorzata, BEJJANI, Bassem A, YUE, Beatrice Yjt, SZAFLIK, Jacek P

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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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Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH von Neill, Nicholas J, Torchia, Beth S, Bejjani, Bassem A, Shaffer, Lisa G, Ballif, Blake C

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Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities von Ballif, Blake C., Theisen, Aaron, Rosenfeld, Jill A., Traylor, Ryan N., Gastier-Foster, Julie, Thrush, Devon Lamb, Astbury, Caroline, Bartholomew, Dennis, McBride, Kim L., Pyatt, Robert E., Shane, Kate, Smith, Wendy E., Banks, Valerie, Gallentine, William B., Brock, Pamela, Rudd, M. Katharine, Adam, Margaret P., Keene, Julia A., Phillips, John A., Pfotenhauer, Jean P., Gowans, Gordon C., Stankiewicz, Pawel, Bejjani, Bassem A., Shaffer, Lisa G.

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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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The clinical utility of enhanced subtelomeric coverage in array CGH von Ballif, Blake C., Sulpizio, Scott G., Lloyd, Richard M., Minier, Sara L., Theisen, Aaron, Bejjani, Bassem A., Shaffer, Lisa G.

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Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate von Sahoo, Trilochan, Theisen, Aaron, Sanchez-Lara, Pedro A., Marble, Michael, Schweitzer, Daniela N., Torchia, Beth S., Lamb, Allen N., Bejjani, Bassem A., Shaffer, Lisa G., Lacassie, Yves

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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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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 new postnatal diagnostic methods for chromosome disorders von Shaffer, Lisa G, Bejjani, Bassem A

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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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Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome von Graham Jr, John M., Kramer, Nancy, Bejjani, Bassem A., Thiel, Christian T., Carta, Claudio, Neri, Giovanni, Tartaglia, Marco, Zenker, Martin

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aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy von Theisen, Aaron, Rosenfeld, Jill A., Farrell, Sandra A., Harris, Catharine J., Wetzel, Heather H., Torchia, Beth A., Bejjani, Bassem A., Ballif, Blake C., Shaffer, Lisa G.

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