High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy

by Stewart, Larissa R, Hall, April L, Kang, Sung-Hae L, Shaw, Chad A, Beaudet, Arthur L
Published 2011

Inhibition of SIRT1 Reactivates Silenced Cancer Genes without Loss of Promoter DNA Hypermethylation

by Pruitt, Kevin, Zinn, Rebekah L, Ohm, Joyce E, McGarvey, Kelly M, Kang, Sung-Hae L, Watkins, D. Neil, Herman, James G, Baylin, Stephen B
Published 2006

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases

by 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
Published 2014

Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

by Celestino-Soper, Patrícia BS, Skinner, Cindy, Schroer, Richard, Eng, Patricia, Shenai, Jayant, Nowaczyk, Malgorzata MJ, Terespolsky, Deborah, Cushing, Donna, Patel, Gayle S, Immken, LaDonna, Willis, Alecia, Wiszniewska, Joanna, Matalon, Reuben, Rosenfeld, Jill A, Stevenson, Roger E, Kang, Sung-Hae L, Cheung, Sau Wai, Beaudet, Arthur L, Stankiewicz, Pawel
Published 2012

Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in Epilepsy

by Campbell, Ian M., Rao, Mitchell, Arredondo, Sean D., Lalani, Seema R., Xia, Zhilian, Kang, Sung-Hae L., Bi, Weimin, Breman, Amy M., Smith, Janice L., Bacino, Carlos A., Beaudet, Arthur L., Patel, Ankita, Cheung, Sau Wai, Lupski, James R., Stankiewicz, Paweł, Ramocki, Melissa B., Shaw, Chad A.
Published 2013

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

by 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, Wai Cheung, Sau, Bacino, Carlos, Patel, Ankita
Published 2014