Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases
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
Published in PloS one (28.03.2007)
Published in PloS one (28.03.2007)
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Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications
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
Published in Human molecular genetics (15.05.2011)
Published in Human molecular genetics (15.05.2011)
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Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes
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
Published in Genome research (01.01.2011)
Published in Genome research (01.01.2011)
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Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results
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
Published in American journal of medical genetics. Part A (01.05.2010)
Published in American journal of medical genetics. Part A (01.05.2010)
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Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences
Bi, Weimin, Yuan, Bo, Liu, Pengfei, Murry, Jaclyn B, Qin, Xiang, Xia, Fan, Quach, Thao, Cooper, Lance M, Wiszniewska, Joanna, Hixson, Patricia, Peacock, Sandra, Tonk, Vijay S, Huff, Robert W, Ortega, Veronica, Lupski, James R, Scherer, Steven E, Littlejohn, Rebecca Okashah, Velagaleti, Gopalrao V N, Roeder, Elizabeth R, Cheung, Sau Wai
Published in Journal of medical genetics (01.06.2023)
Published in Journal of medical genetics (01.06.2023)
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Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay
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
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.07.2010)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.07.2010)
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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
Shchelochkov, Oleg A, Cooper, M Lance, Ou, Zhishuo, Peacock, Sandra, Yatsenko, Svetlana A, Brown, Chester W, Fang, Ping, Stankiewicz, Pawel, Cheung, Sau Wai
Published in Molecular cytogenetics (25.07.2008)
Published in Molecular cytogenetics (25.07.2008)
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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?
Shinawi, Marwan, Cain, Mark P., VanderBrink, Brian A., Grignon, David J., Mensing, Drew, Cooper, M. Lance, Bader, Patricia, Cheung, Sau Wai
Published in American journal of medical genetics. Part A (01.07.2010)
Published in American journal of medical genetics. Part A (01.07.2010)
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Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement
Ou, Zhishuo, Martin, Donna M., Bedoyan, Jirair K., Cooper, M. Lance, Chinault, A. Craig, Stankiewicz, Pawel, Cheung, Sau W.
Published in American journal of medical genetics. Part A (01.10.2008)
Published in American journal of medical genetics. Part A (01.10.2008)
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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
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.
Published in American journal of medical genetics. Part A (15.06.2007)
Published in American journal of medical genetics. Part A (15.06.2007)
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Mosaic tetrasomy 12p with triplication of 12p detected by array-based comparative genomic hybridization of peripheral blood DNA
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.
Published in American journal of medical genetics. Part A (15.12.2007)
Published in American journal of medical genetics. Part A (15.12.2007)
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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)
Jiang, Yong‐Hui, Martinez, Jose E., Ou, Zhishuo, Cooper, M. Lance, Kang, Sung‐Hae L., Pursley, Amber, Cheung, Sau W.
Published in American journal of medical genetics. Part A (01.08.2008)
Published in American journal of medical genetics. Part A (01.08.2008)
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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 retardation and dysmorphic features
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
Published in American journal of medical genetics. Part A (15.08.2005)
Published in American journal of medical genetics. Part A (15.08.2005)
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Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements
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
Published in Cell (16.09.2011)
Published in Cell (16.09.2011)
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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
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.
Published in Human mutation (01.01.2012)
Published in Human mutation (01.01.2012)
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32 - Unexpected Chromosomal Abnormalities Identified by CMA Confirmation Studies
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
Published in Cancer genetics (01.05.2016)
Published in Cancer genetics (01.05.2016)
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Journal Article
Unexpected Chromosomal Abnormalities Identified by CMA Confirmation Studies
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
Published in Cancer genetics (01.05.2016)
Published in Cancer genetics (01.05.2016)
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Mosaicism for r provides insight into the possible mechanism of rearrangement
Shchelochkov, Oleg A, Cooper, M Lance, Ou, Zhishuo, Peacock, Sandra, Yatsenko, Svetlana A, Brown, Chester W, Fang, Ping, Stankiewicz, Pawel, Cheung, Sau Wai
Published in Molecular cytogenetics (25.07.2008)
Published in Molecular cytogenetics (25.07.2008)
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Journal Article
Mixed gonadal dysgenesis in a child with isodicentric y chromosome: Does the relative proportion of the 45,X line really matter?
Shinawi, Marwan, Cain, Mark P., VanderBrink, Brian A., Grignon, David J., Mensing, Drew, Cooper, M. Lance, Bader, Patricia, Cheung, Sau Wai
Published in American Journal of Medical Genetics Part A (01.07.2010)
Published in American Journal of Medical Genetics Part A (01.07.2010)
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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)
Jiang, Yong-Hui, Martinez, Jose E., Ou, Zhishuo, Cooper, M. Lance, Kang, Sung-Hae L., Pursley, Amber, Cheung, Sau W.
Published in American Journal of Medical Genetics Part A (01.08.2008)
Published in American Journal of Medical Genetics Part A (01.08.2008)
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Report