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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NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation
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
Published in eLife (27.08.2015)
Published in eLife (27.08.2015)
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22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome
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
Published in American journal of human genetics (01.01.2008)
Published in American journal of human genetics (01.01.2008)
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Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1
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
Published in PloS one (09.09.2014)
Published in PloS one (09.09.2014)
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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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Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases
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.
Published in American journal of medical genetics. Part A (01.09.2008)
Published in American journal of medical genetics. Part A (01.09.2008)
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Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease
LEE, Jennifer A, INOUE, Ken, CHEUNG, Sau W, SHAW, Chad A, STANKIEWICZ, Pawel, LUPSKI, James R
Published in Human molecular genetics (15.07.2006)
Published in Human molecular genetics (15.07.2006)
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Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis
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
Published in American journal of medical genetics. Part A (01.12.2013)
Published in American journal of medical genetics. Part A (01.12.2013)
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Accurate Description of DNA-Based Noninvasive Prenatal Screening
Cheung, Sau W, Patel, Ankita, Leung, Tak Y
Published in The New England journal of medicine (23.04.2015)
Published in The New England journal of medicine (23.04.2015)
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Cytogenetically visible inversions are formed by multiple molecular mechanisms
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
Published in Human mutation (01.11.2020)
Published in Human mutation (01.11.2020)
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Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature
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
Published in Prenatal diagnosis (01.04.2012)
Published in Prenatal diagnosis (01.04.2012)
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A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay
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
Published in Genetics in medicine (01.05.2019)
Published in Genetics in medicine (01.05.2019)
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Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis
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
Published in Pediatrics (Evanston) (01.12.2008)
Published in Pediatrics (Evanston) (01.12.2008)
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Phenotypic spectrum and genotype―phenotype correlations of NRXN1 exon deletions
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
Published in European journal of human genetics : EJHG (01.12.2012)
Published in European journal of human genetics : EJHG (01.12.2012)
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Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27
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
Published in European journal of human genetics : EJHG (01.01.2015)
Published in European journal of human genetics : EJHG (01.01.2015)
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MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development
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
Published in Human molecular genetics (01.11.2013)
Published in Human molecular genetics (01.11.2013)
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