Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases von Lu, Xinyan, Shaw, Chad A, Patel, Ankita, Li, Jiangzhen, Cooper, M Lance, Wells, William R, Sullivan, Cathy M, Sahoo, Trilochan, Yatsenko, Svetlana A, Bacino, Carlos A, Stankiewicz, Pawel, Ou, Zhishu, Chinault, A Craig, Beaudet, Arthur L, Lupski, James R, Cheung, Sau W, Ward, Patricia A

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NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation von Gennarino, Vincenzo A, Alcott, Callison E, Chen, Chun-An, Chaudhury, Arindam, Gillentine, Madelyn A, Rosenfeld, Jill A, Parikh, Sumit, Wheless, James W, Roeder, Elizabeth R, Horovitz, Dafne D G, Roney, Erin K, Smith, Janice L, Cheung, Sau W, Li, Wei, Neilson, Joel R, Schaaf, Christian P, Zoghbi, Huda Y

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22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome von Ben-Shachar, Shay, Ou, Zhishuo, Shaw, Chad A., Belmont, John W., Patel, Millan S., Hummel, Marybeth, Amato, Stephen, Tartaglia, Nicole, Berg, Jonathan, Sutton, V. Reid, Lalani, Seema R., Chinault, A. Craig, Cheung, Sau W., Lupski, James R., Patel, Ankita

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Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1 von Jorgez, Carolina J, Rosenfeld, Jill A, Wilken, Nathan R, Vangapandu, Hima V, Sahin, Aysegul, Pham, Dung, Carvalho, Claudia M B, Bandholz, Anne, Miller, Amanda, Weaver, David D, Burton, Barbara, Babu, Deepti, Bamforth, John S, Wilks, Timothy, Flynn, Daniel P, Roeder, Elizabeth, Patel, Ankita, Cheung, Sau W, Lupski, James R, Lamb, Dolores J

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Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes von Ou, Zhishuo, Stankiewicz, Paweł, Xia, Zhilian, Breman, Amy M, Dawson, Brian, Wiszniewska, Joanna, Szafranski, Przemyslaw, Cooper, M Lance, Rao, Mitchell, Shao, Lina, South, Sarah T, Coleman, Karlene, Fernhoff, Paul M, Deray, Marcel J, Rosengren, Sally, Roeder, Elizabeth R, Enciso, Victoria B, Chinault, A Craig, Patel, Ankita, Kang, Sung-Hae L, Shaw, Chad A, Lupski, James R, Cheung, Sau W

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Accurate Description of DNA-Based Noninvasive Prenatal Screening von Cheung, Sau W, Patel, Ankita, Leung, Tak Y

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Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases von Shao, Lina, Shaw, Chad A., Lu, Xin-Yan, Sahoo, Trilochan, Bacino, Carlos A., Lalani, Seema R., Stankiewicz, Pawel, Yatsenko, Svetlana A., Li, Yinfeng, Neill, Sarah, Pursley, Amber N., Chinault, A. Craig, Patel, Ankita, Beaudet, Arthur L., Lupski, James R., Cheung, Sau W.

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Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease von LEE, Jennifer A, INOUE, Ken, CHEUNG, Sau W, SHAW, Chad A, STANKIEWICZ, Pawel, LUPSKI, James R

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Application of DNA Microarray to Clinical Diagnostics von Patel, Ankita, Cheung, Sau W.

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Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis von Peddibhotla, Sirisha, Khalifa, Mohamed, Probst, Frank J., Stein, Jennifer, Harris, Leslie L., Kearney, Debra L., Vance, Gail H., Bull, Marilyn J., Grange, Dorothy K., Scharer, Gunter H., Kang, Sue-Hae L., Stankiewicz, Pawel, Bacino, Carlos A., Cheung, Sau W., Patel, Ankita

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Microarray analysis: First‐trimester maternal serum free β‐hCG and the risk of significant copy number variants von Bornstein, Eran, Gulersen, Moti, Krantz, David, Cheung, Sau W., Maliszewski, Kristen, Divon, Michael Y.

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Cytogenetically visible inversions are formed by multiple molecular mechanisms von Pettersson, Maria, Grochowski, Christopher M., Wincent, Josephine, Eisfeldt, Jesper, Breman, Amy M., Cheung, Sau W., Krepischi, Ana C. V., Rosenberg, Carla, Lupski, James R., Ottosson, Jesper, Lovmar, Lovisa, Gacic, Jelena, Lundberg, Elisabeth S., Nilsson, Daniel, Carvalho, Claudia M. B., Lindstrand, Anna

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Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature von Breman, Amy, Pursley, Amber N., Hixson, Patricia, Bi, Weimin, Ward, Patricia, Bacino, Carlos A., Shaw, Chad, Lupski, James R., Beaudet, Arthur, Patel, Ankita, Cheung, Sau W., Van den Veyver, Ignatia

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A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay von Mucha, Bettina E., Banka, Siddharth, Ajeawung, Norbert Fonya, Molidperee, Sirinart, Chen, Gary G., Koenig, Mary Kay, Adejumo, Rhamat B., Till, Marianne, Harbord, Michael, Perrier, Renee, Lemyre, Emmanuelle, Boucher, Renee-Myriam, Skotko, Brian G., Waxler, Jessica L., Thomas, Mary Ann, Hodge, Jennelle C., Gecz, Jozef, Nicholl, Jillian, McGregor, Lesley, Linden, Tobias, Sisodiya, Sanjay M., Sanlaville, Damien, Cheung, Sau W., Ernst, Carl, Campeau, Philippe M.

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Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis von Lu, Xin-Yan, Phung, Mai T, Shaw, Chad A, Pham, Kim, Neil, Sarah E, Patel, Ankita, Sahoo, Trilochan, Bacino, Carlos A, Stankiewicz, Pawel, Kang, Sung-Hae Lee, Lalani, Seema, Chinault, A. Craig, Lupski, James R, Cheung, Sau W, Beaudet, Arthur L

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Phenotypic spectrum and genotype―phenotype correlations of NRXN1 exon deletions von SCHAAF, Christian P, BOONE, Philip M, TARTAGLIA, Nicole R, EVANS, Patricia, CAMPBELL, William M, TSAI, Anne Chun-Hui, PARSLEY, Lea, GRAYSON, Stephanie W, SCHEUERLE, Angela, LUZZI, Carol D, THOMAS, Sandra K, ENG, Patricia A, SAMPATH, Srirangan, KANG, Sung-Hae L, PATEL, Ankita, STANKIEWICZ, Pawel, CHEUNG, Sau W, WILLIAMS, Charles, BADER, Patricia I, MUELLER, Jennifer M, SHCHELOCHKOV, Oleg A, BROWN, Chester W, CRAWFORD, Heather P, PHALEN, James A

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Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27 von Peddibhotla, Sirisha, Nagamani, Sandesh C S, Erez, Ayelet, Hunter, Jill V, Holder, Jr, J Lloyd, Carlin, Mary E, Bader, Patricia I, Perras, Helene M F, Allanson, Judith E, Newman, Leslie, Simpson, Gayle, Immken, LaDonna, Powell, Erin, Mohanty, Aaron, Kang, Sung-Hae L, Stankiewicz, Pawel, Bacino, Carlos A, Bi, Weimin, Patel, Ankita, Cheung, Sau W

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MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development von Lalani, Seema R, Ware, Stephanie M, Wang, Xueqing, Zapata, Gladys, Tian, Qi, Franco, Luis M, Jiang, Zhengxin, Bucasas, Kristine, Scott, Daryl A, Campeau, Philippe M, Hanchard, Neil, Umaña, Luis, Cast, Ashley, Patel, Ankita, Cheung, Sau W, McBride, Kim L, Bray, Molly, Craig Chinault, A, Boggs, Barbara A, Huang, Miao, Baker, Mariah R, Hamilton, Susan, Towbin, Jeff, Jefferies, John L, Fernbach, Susan D, Potocki, Lorraine, Belmont, John W

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Development and validation of a CGH microarray for clinical cytogenetic diagnosis von Cheung, Sau W., Shaw, Chad A., Yu, Wei, Li, Jiangzham, Ou, Zhishuo, Patel, Ankita, Yatsenko, Svetlana A., Cooper, Mitchell L., Furman, Patti, Stankiewicz, Pawal, Lupski, James R., Chinault, A Craig, Beaudet, Arthur L.

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Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay von Mucha, Bettina E., Banka, Siddharth, Ajeawung, Norbert Fonya, Molidperee, Sirinart, Chen, Gary G., Koenig, Mary Kay, Adejumo, Rhamat B., Till, Marianne, Harbord, Michael, Perrier, Renee, Lemyre, Emmanuelle, Boucher, Renee-Myriam, Skotko, Brian G., Waxler, Jessica L., Thomas, Mary Ann, Hodge, Jennelle C., Gecz, Jozef, Nicholl, Jillian, McGregor, Lesley, Linden, Tobias, Sisodiya, Sanjay M., Sanlaville, Damien, Cheung, Sau W., Ernst, Carl, Campeau, Philippe M.

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