High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping von Peiffer, Daniel A, Le, Jennie M, Steemers, Frank J, Chang, Weihua, Jenniges, Tony, Garcia, Francisco, Haden, Kirt, Li, Jiangzhen, Shaw, Chad A, Belmont, John, Cheung, Sau Wai, Shen, Richard M, Barker, David L, Gunderson, Kevin L

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4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions von Bi, Weimin, Cheung, Sau-Wai, Breman, Amy M., Bacino, Carlos A.

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DUF1220-Domain Copy Number Implicated in Human Brain-Size Pathology and Evolution von Dumas, Laura J., O’Bleness, Majesta S., Davis, Jonathan M., Dickens, C. Michael, Anderson, Nathan, Keeney, J.G., Jackson, Jay, Sikela, Megan, Raznahan, Armin, Giedd, Jay, Rapoport, Judith, Nagamani, Sandesh S.C., Erez, Ayelet, Brunetti-Pierri, Nicola, Sugalski, Rachel, Lupski, James R., Fingerlin, Tasha, Cheung, Sau Wai, Sikela, James M.

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Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases von Dharmadhikari, Avinash V, Ghosh, Rajarshi, Yuan, Bo, Liu, Pengfei, Dai, Hongzheng, Al Masri, Sami, Scull, Jennifer, Posey, Jennifer E, Jiang, Allen H, He, Weimin, Vetrini, Francesco, Braxton, Alicia A, Ward, Patricia, Chiang, Theodore, Qu, Chunjing, Gu, Shen, Shaw, Chad A, Smith, Janice L, Lalani, Seema, Stankiewicz, Pawel, Cheung, Sau-Wai, Bacino, Carlos A, Patel, Ankita, Breman, Amy M, Wang, Xia, Meng, Linyan, Xiao, Rui, Xia, Fan, Muzny, Donna, Gibbs, Richard A, Beaudet, Arthur L, Eng, Christine M, Lupski, James R, Yang, Yaping, Bi, Weimin

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Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture von Vissers, Lisenka E.L.M., Bhatt, Samarth S., Janssen, Irene M., Xia, Zhilian, Lalani, Seema R., Pfundt, Rolph, Derwinska, Katarzyna, de Vries, Bert B.A., Gilissen, Christian, Hoischen, Alexander, Nesteruk, Monika, Wisniowiecka-Kowalnik, Barbara, Smyk, Marta, Brunner, Han G., Cheung, Sau Wai, van Kessel, Ad Geurts, Veltman, Joris A., Stankiewicz, Pawel

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Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases von Pham, Justin, Shaw, Chad, Pursley, Amber, Hixson, Patricia, Sampath, Srirangan, Roney, Erin, Gambin, Tomasz, Kang, Sung-Hae L, Bi, Weimin, Lalani, Seema, Bacino, Carlos, Lupski, James R, Stankiewicz, Pawel, Patel, Ankita, Cheung, Sau-Wai

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6q22.1 microdeletion and susceptibility to pediatric epilepsy von Szafranski, Przemyslaw, Von Allmen, Gretchen K, Graham, Brett H, Wilfong, Angus A, Kang, Sung-Hae L, Ferreira, Jose A, Upton, Sheila J, Moeschler, John B, Bi, Weimin, Rosenfeld, Jill A, Shaffer, Lisa G, Wai Cheung, Sau, Stankiewicz, Paweł, Lalani, Seema R

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Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes von Carvalho, Claudia M.B., Vasanth, Shivakumar, Shinawi, Marwan, Russell, Chad, Ramocki, Melissa B., Brown, Chester W., Graakjaer, Jesper, Skytte, Anne-Bine, Vianna-Morgante, Angela M., Krepischi, Ana C.V., Patel, Gayle S., Immken, LaDonna, Aleck, Kyrieckos, Lim, Cynthia, Cheung, Sau Wai, Rosenberg, Carla, Katsanis, Nicholas, Lupski, James R.

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Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1-2 (BP1-BP2) in a large cohort of samples referred for genetic diagnosis von Mohan, K Naga, Cao, Ye, Pham, Justin, Cheung, Sau Wai, Hoffner, Lori, Ou, Z Zishuo, Surti, Urvashi, Cook, Edwin H, Beaudet, Arthur L

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Refinement of the postnatal growth restriction locus of chromosome 5q12-13 deletion syndrome von Holder Jr, J. Lloyd, Cheung, Sau-Wai

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A 1q42 deletion involving DISC1, DISC2, and TSNAX in an autism spectrum disorder von Williams, Jaime M., Beck, Tyler F., Pearson, David M., Proud, Monica B., Cheung, Sau Wai, Scott, Daryl A.

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The array CGH and its clinical applications von Shinawi, Marwan, Cheung, Sau Wai

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SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties von Han, Kihoon, Holder Jr, J. Lloyd, Schaaf, Christian P., Lu, Hui, Chen, Hongmei, Kang, Hyojin, Tang, Jianrong, Wu, Zhenyu, Hao, Shuang, Cheung, Sau Wai, Yu, Peng, Sun, Hao, Breman, Amy M., Patel, Ankita, Lu, Hui-Chen, Zoghbi, Huda Y.

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Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster von Beaudet, Arthur L, Sahoo, Trilochan, del Gaudio, Daniela, German, Jennifer R, Shinawi, Marwan, Peters, Sarika U, Person, Richard E, Garnica, Adolfo, Cheung, Sau Wai

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Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders von Campbell, Ian M., Yuan, Bo, Robberecht, Caroline, Pfundt, Rolph, Szafranski, Przemyslaw, McEntagart, Meriel E., Nagamani, Sandesh C.S., Erez, Ayelet, Bartnik, Magdalena, Wiśniowiecka-Kowalnik, Barbara, Plunkett, Katie S., Pursley, Amber N., Kang, Sung-Hae L., Bi, Weimin, Lalani, Seema R., Bacino, Carlos A., Vast, Mala, Marks, Karen, Patton, Michael, Olofsson, Peter, Patel, Ankita, Veltman, Joris A., Cheung, Sau Wai, Shaw, Chad A., Vissers, Lisenka E.L.M., Vermeesch, Joris R., Lupski, James R., Stankiewicz, Paweł

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BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes von Aref-Eshghi, Erfan, Bend, Eric G., Hood, Rebecca L., Schenkel, Laila C., Carere, Deanna Alexis, Chakrabarti, Rana, Nagamani, Sandesh C. S., Cheung, Sau Wai, Campeau, Philippe M., Prasad, Chitra, Siu, Victoria Mok, Brady, Lauren, Tarnopolsky, Mark A., Callen, David J., Innes, A. Micheil, White, Susan M., Meschino, Wendy S., Shuen, Andrew Y., Paré, Guillaume, Bulman, Dennis E., Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Hennekam, Raoul C., Boycott, Kym M., Schwartz, Charles E., Sadikovic, Bekim

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Hep G2 is a hepatoblastoma-derived cell line von López-Terrada, Dolores, MD, PhD, Cheung, Sau Wai, PhD, MBA, Finegold, Milton J., MD, Knowles, Barbara B., PhD

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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size von Shinawi, Marwan, Liu, Pengfei, Kang, Sung-Hae L, Shen, Joseph, Belmont, John W, Scott, Daryl A, Probst, Frank J, Craigen, William J, Graham, Brett H, Pursley, Amber, Clark, Gary, Lee, Jennifer, Proud, Monica, Stocco, Amber, Rodriguez, Diana L, Kozel, Beth A, Sparagana, Steven, Roeder, Elizabeth R, McGrew, Susan G, Kurczynski, Thaddeus W, Allison, Leslie J, Amato, Stephen, Savage, Sarah, Patel, Ankita, Stankiewicz, Pawel, Beaudet, Arthur L, Cheung, Sau Wai, Lupski, James R

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Introductory comments on special section-Genomic microduplications: When adding may equal subtracting von Bacino, Carlos A., Cheung, Sau-Wai

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Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing von Wiszniewska, Joanna, Bi, Weimin, Shaw, Chad, Stankiewicz, Pawel, Kang, Sung-Hae L, Pursley, Amber N, Lalani, Seema, Hixson, Patricia, Gambin, Tomasz, Tsai, Chun-hui, Bock, Hans-Georg, Descartes, Maria, Probst, Frank J, Scaglia, Fernando, Beaudet, Arthur L, Lupski, James R, Eng, Christine, Cheung, Sau Wai, Bacino, Carlos, Patel, Ankita

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