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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Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications von PENGFEI LIU, EREZ, Ayelet, REID SUTTON, V, ROEDER, Elizabeth R, BODENSTEINER, John B, DELGADO, Mauricio R, PRAKASH, Siddharth K, BELMONT, John W, STANKIEWICZ, Pawel, BERG, Jonathan S, SHINAWI, Marwan, PATEL, Ankita, SREENATH NAGAMANI, Sandesh C, WAI CHEUNG, Sau, LUPSKI, James R, WEIMIN BI, CARVALHO, Claudia M. B, SIMMONS, Alexandra D, WISZNIEWSKA, Joanna, PING FANG, ENG, Patricia A, LANCE COOPER, M

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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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Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results von Kang, Sung-Hae L., Shaw, Chad, Ou, Zhishuo, Eng, Patricia A., Cooper, M. Lance, Pursley, Amber N., Sahoo, Trilochan, Bacino, Carlos A., Chinault, A. Craig, Stankiewicz, Pawel, Patel, Ankita, Lupski, James R., Cheung, Sau Wai

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Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay von Wiśniowiecka-Kowalnik, Barbara, Nesteruk, Monika, Peters, Sarika U., Xia, Zhilian, Cooper, M. Lance, Savage, Sarah, Amato, R. Stephen, Bader, Patricia, Browning, Marsha F., Haun, Christa L., Duda III, Andrew Walter, Cheung, Sau Wai, Stankiewicz, Paweł

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Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement von Shchelochkov, Oleg A, Cooper, M Lance, Ou, Zhishuo, Peacock, Sandra, Yatsenko, Svetlana A, Brown, Chester W, Fang, Ping, Stankiewicz, Pawel, Cheung, Sau Wai

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Mixed gonadal dysgenesis in a child with isodicentric y chromosome: Does the relative proportion of the 45,X line really matter? von Shinawi, Marwan, Cain, Mark P., VanderBrink, Brian A., Grignon, David J., Mensing, Drew, Cooper, M. Lance, Bader, Patricia, Cheung, Sau Wai

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Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement von Ou, Zhishuo, Martin, Donna M., Bedoyan, Jirair K., Cooper, M. Lance, Chinault, A. Craig, Stankiewicz, Pawel, Cheung, Sau W.

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Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation von Probst, Frank J., Roeder, Elizabeth R., Enciso, Victoria B., Ou, Zhishuo, Cooper, M. Lance, Eng, Patricia, Li, Jiangzhen, Gu, Yanghong, Stratton, Robert F., Chinault, A. Craig, Shaw, Chad A., Sutton, V. Reid, Cheung, Sau Wai, Nelson, David L.

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Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements von Liu, Pengfei, Erez, Ayelet, Nagamani, Sandesh C. Sreenath, Dhar, Shweta U., Kołodziejska, Katarzyna E., Dharmadhikari, Avinash V., Cooper, M. Lance, Wiszniewska, Joanna, Zhang, Feng, Withers, Marjorie A., Bacino, Carlos A., Campos-Acevedo, Luis Daniel, Delgado, Mauricio R., Freedenberg, Debra, Garnica, Adolfo, Grebe, Theresa A., Hernández-Almaguer, Dolores, Immken, LaDonna, Lalani, Seema R., McLean, Scott D., Northrup, Hope, Scaglia, Fernando, Strathearn, Lane, Trapane, Pamela, Kang, Sung-Hae L., Patel, Ankita, Cheung, Sau Wai, Hastings, P.J., Stankiewicz, Paweł, Lupski, James R., Bi, Weimin

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Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA von Powis, Zöe, Kang, Sung-Hae L., Cooper, M. Lance, Patel, Ankita, Peiffer, Daniel A., Hawkins, Anne, Heidenreich, Randall, Gunderson, Kevin L., Cheung, Sau W., Erickson, Robert P.

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De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently “balanced” paracentric inversion of 14(q21q23... von Jiang, Yong‐Hui, Martinez, Jose E., Ou, Zhishuo, Cooper, M. Lance, Kang, Sung‐Hae L., Pursley, Amber, Cheung, Sau W.

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Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array‐based comparative genomic hybridization in a patient with mental retarda... von Hwang, Kwei Shuai, Pearson, Margaret A., Stankiewicz, Pawel, Lennon, P. Alan, Cooper, M. Lance, Wu, Jessica, Ou, Zhishuo, Cai, Wei‐Wen, Patel, Ankita, Cheung, Sau Wai

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Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats von Stankiewicz, Paweł, Kulkarni, Shashikant, Dharmadhikari, Avinash V., Sampath, Srirangan, Bhatt, Samarth S., Shaikh, Tamim H., Xia, Zhilian, Pursley, Amber N., Cooper, M. Lance, Shinawi, Marwan, Paciorkowski, Alex R., Grange, Dorothy K., Noetzel, Michael J., Saunders, Scott, Simons, Paul, Summar, Marshall, Lee, Brendan, Scaglia, Fernando, Fellmann, Florence, Martinet, Danielle, Beckmann, Jacques S., Asamoah, Alexander, Platky, Kathryn, Sparks, Susan, Martin, Ann S., Madan-Khetarpal, Suneeta, Hoover, Jacqueline, Medne, Livija, Bonnemann, Carsten G., Moeschler, John B., Vallee, Stephanie E., Parikh, Sumit, Irwin, Polly, Dalzell, Victoria P., Smith, Wendy E., Banks, Valerie C., Flannery, David B., Lovell, Carolyn M., Bellus, Gary A., Golden-Grant, Kathryn, Gorski, Jerome L., Kussmann, Jennifer L., McGregor, Tracy L., Hamid, Rizwan, Pfotenhauer, Jean, Ballif, Blake C., Shaw, Chad A., Kang, Sung-Hae L., Bacino, Carlos A., Patel, Ankita, Rosenfeld, Jill A., Cheung, Sau Wai, Shaffer, Lisa G.

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32 - Unexpected Chromosomal Abnormalities Identified by CMA Confirmation Studies von Cheung, Sau W., Pursley, Amber N., Ladha, Farah A., Song, Roger H., Anderson, Stephanie A., Cooper, M. Lance, Shaw, Chad, Bacino, Carlos A., Patel, Ankita

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Unexpected Chromosomal Abnormalities Identified by CMA Confirmation Studies von Cheung, Sau W, Pursley, Amber N, Ladha, Farah A, Song, Roger H, Anderson, Stephanie A, Cooper, M. Lance, Shaw, Chad, Bacino, Carlos A, Patel, Ankita

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Mosaicism for r provides insight into the possible mechanism of rearrangement von Shchelochkov, Oleg A, Cooper, M Lance, Ou, Zhishuo, Peacock, Sandra, Yatsenko, Svetlana A, Brown, Chester W, Fang, Ping, Stankiewicz, Pawel, Cheung, Sau Wai

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Mixed gonadal dysgenesis in a child with isodicentric y chromosome: Does the relative proportion of the 45,X line really matter? von Shinawi, Marwan, Cain, Mark P., VanderBrink, Brian A., Grignon, David J., Mensing, Drew, Cooper, M. Lance, Bader, Patricia, Cheung, Sau Wai

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De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently "balanced" paracentric inversion of 14(q21q23... von Jiang, Yong-Hui, Martinez, Jose E., Ou, Zhishuo, Cooper, M. Lance, Kang, Sung-Hae L., Pursley, Amber, Cheung, Sau W.

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Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation von Probst, Frank J., Roeder, Elizabeth R., Enciso, Victoria B., Ou, Zhishuo, Cooper, M. Lance, Eng, Patricia, Li, Jiangzhen, Gu, Yanghong, Stratton, Robert F., Chinault, A. Craig, Shaw, Chad A., Sutton, V. Reid, Cheung, Sau Wai, Nelson, David L.

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