Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C D box snoRNA cluster in Prader-Willi syndrome von Duker, Angela L, Ballif, Blake C, Bawle, Erawati V, Person, Richard E, Mahadevan, Sangeetha, Alliman, Sarah, Thompson, Regina, Traylor, Ryan, Bejjani, Bassem A, Shaffer, Lisa G, Rosenfeld, Jill A, Lamb, Allen N, Sahoo, Trilochan

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Ocular Drug Delivery Targeting the Retina and Retinal Pigment Epithelium Using Polylactide Nanoparticles von Bourges, Jean-Louis, Gautier, Sandrine E, Delie, Florence, Bejjani, Riad A, Jeanny, Jean-Claude, Gurny, Robert, BenEzra, David, Behar-Cohen, Francine F

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Detection of low-level mosaicism by array CGH in routine diagnostic specimens von Ballif, Blake C., Rorem, Emily A., Sundin, Kyle, Lincicum, Matt, Gaskin, Shannon, Coppinger, Justine, Kashork, Catherine D., Shaffer, Lisa G., Bejjani, Bassem A.

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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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Clinical utility of contemporary molecular cytogenetics von Bejjani, Bassem A, Shaffer, Lisa G

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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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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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Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication von Ballif, Blake C, Theisen, Aaron, Coppinger, Justine, Gowans, Gordon C, Hersh, Joseph H, Madan-Khetarpal, Suneeta, Schmidt, Karen R, Tervo, Raymond, Escobar, Luis F, Friedrich, Christopher A, McDonald, Marie, Campbell, Lindsey, Ming, Jeffrey E, Zackai, Elaine H, Bejjani, Bassem A, 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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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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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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Extragonadal germ cell tumor presenting with spinal cord compression: a case report and literature review von Farah, Roula A., Matta, Judy K., Metri, Aida A., Bejjani-Doueihy, Noha A., Saikali, Ibrahim C.

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Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A von Campbell, Ian M., Yatsenko, Svetlana A., Hixson, Patricia, Reimschisel, Tyler, Thomas, Matthew, Wilson, William, Dayal, Usha, Wheless, James W., Crunk, Amy, Curry, Cynthia, Parkinson, Nicole, Fishman, Leona, Riviello, James J., Nowaczyk, Malgorzata J.M., Zeesman, Susan, Rosenfeld, Jill A., Bejjani, Bassem A., Shaffer, Lisa G., Cheung, Sau Wai, Lupski, James R., Stankiewicz, Pawel, Scaglia, Fernando

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Simultaneous quantification of amoxicillin and potassium clavulanate in different commercial drugs using PIXE technique von Bejjani, A., Roumié, M., Al Akkad, Sarwa, El-Yazbi, F., Nsouli, B.

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Array comparative genomic hybridization in global developmental delay von Shevell, M.I., Bejjani, B.A., Srour, M., Rorem, E.A., Hall, N., Shaffer, L.G.

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

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Identification of familial and de novo microduplications of 22q11.21–q11.23 distal to the 22q11.21 microdeletion syndrome region von Coppinger, Justine, McDonald-McGinn, Donna, Zackai, Elaine, Shane, Kate, Atkin, Joan F., Asamoah, Alexander, Leland, Robert, Weaver, David D., Lansky-Shafer, Susan, Schmidt, Karen, Feldman, Heidi, Cohen, William, Phalin, Judy, Powell, Berkley, Ballif, Blake C., Theisen, Aaron, Geiger, Elizabeth, Haldeman-Englert, Chad, Shaikh, Tamim H., Saitta, Sulagna, Bejjani, Bassem A., Shaffer, Lisa G.

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Novel ‘heavy’ dyes for retinal membrane staining during macular surgery: multicenter clinical assessment von Veckeneer, Marc, Mohr, Andreas, Alharthi, Essam, Azad, Rajvardhan, Bashshur, Ziad F., Bertelli, Enrico, Bejjani, Riad A., Bouassida, Brahim, Bourla, Dan, Crespo, Iñigo Corcóstegui, Fahed, Charbel, Fayyad, Faisal, Mura, Marco, Nawrocki, Jerzy, Rivett, Kelvin, Scharioth, Gabor B., Shkvorchenko, Dmitry O., Szurman, Peter, Van Wijck, Hein, Wong, Ian Y., Wong, David S. H., Frank, Johannes, Oellerich, Silke, Bruinsma, Marieke, Melles, Gerrit R. J.

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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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