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

Por Stewart, Larissa R, Hall, April L, Kang, Sung-Hae L, Shaw, Chad A, Beaudet, Arthur L
Publicado em 2011

MECP2 duplications in six patients with complex sex chromosome rearrangements

Por Breman, Amy M, Ramocki, Melissa B, Kang, Sung-Hae L, Williams, Misti, Freedenberg, Debra, Patel, Ankita, Bader, Patricia I, Cheung, Sau Wai
Publicado em 2011

MECP2 duplications in six patients with complex sex chromosome rearrangements

Por Breman, Amy M, Ramocki, Melissa B, Kang, Sung-Hae L, Williams, Misti, Freedenberg, Debra, Patel, Ankita, Bader, Patricia I, Cheung, Sau Wai
Publicado em 2011

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

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

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

Por Ou, Zhishuo, Kang, Sung-Hae L., Shaw, Chad A., Carmack, Condie E., White, Lisa D., Patel, Ankita, Beaudet, Arthur L., Cheung, Sau Wai, Chinault, A. Craig
Publicado em 2008

Identification of De Novo Copy Number Variants Associated with Human Disorders of Sexual Development

Por Tannour-Louet, Mounia, Han, Shuo, Corbett, Sean T., Louet, Jean-Francois, Yatsenko, Svetlana, Meyers, Lindsay, Shaw, Chad A., Kang, Sung-Hae L., Cheung, Sau Wai, Lamb, Dolores J.
Publicado em 2010

Array Comparative Genomic Hybridization Detects Chromosomal Abnormalities in Hematological Cancers That Are Not Detected by Conventional Cytogenetics

Por Shao, Lina, Kang, Sung-Hae L., Li, Jian, Hixson, Patricia, Taylor, Jesalyn, Yatsenko, Svetlana A., Shaw, Chad A., Milosavljevic, Aleksandar, Chang, Chung-Che, Cheung, Sau Wai, Patel, Ankita
Publicado em 2010

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

Por 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
Publicado no Eur J Hum Genet (2014)

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

Por Nagamani, Sandesh Chakravarthy Sreenath, Erez, Ayelet, Shen, Joseph, Li, Chumei, Roeder, Elizabeth, Cox, Sarah, Karaviti, Lefkothea, Pearson, Margret, Kang, Sung-Hae L, Sahoo, Trilochan, Lalani, Seema R, Stankiewicz, Pawel, Sutton, V Reid, Cheung, Sau Wai
Publicado em 2010

Insertional Translocation Detected Using FISH Confirmation of Array-Comparative Genomic Hybridization (aCGH) Results

Por 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
Publicado em 2010

HERV-Mediated Genomic Rearrangement of EYA1 in an Individual With Branchio-oto-renal Syndrome

Por Sanchez-Valle, Amarilis, Wang, Xueqing, Potocki, Lorraine, Xia, Zhilian, Kang, Sung-Hae L., Carlin, Mary E., Michel, Donnice, Williams, Patricia, Cabrera-Meza, Gerardo, Brundage, Ellen K., Eifert, Anna L., Stankiewicz, Pawel, Cheung, Sau Wai, Lalani, Seema R.
Publicado em 2010

6q22.1 microdeletion and susceptibility to pediatric epilepsy

Por 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
Publicado no Eur J Hum Genet (2015)

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

Por El-Hattab, Ayman W., Smolarek, Teresa A., Walker, Martha E., Schorry, Elizabeth K., Immken, LaDonna L., Patel, Gayle, Abbott, Mary-Alice, Lanpher, Brendan C., Ou, Zhishuo, Kang, Sung-Hae L., Patel, Ankita, Scaglia, Fernando, Lupski, James R., Cheung, Sau Wai, Stankiewicz, Pawel
Publicado em 2009

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

Por 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, Beaudet Arthur L, Stankiewicz Pawel
Publicado em 2012-04-01

Phenotypic manifestations of copy number variation in chromosome 16p13.11

Por Nagamani, Sandesh C Sreenath, Erez, Ayelet, Bader, Patricia, Lalani, Seema R, Scott, Daryl A, Scaglia, Fernando, Plon, Sharon E, Tsai, Chun-Hui, Reimschisel, Tyler, Roeder, Elizabeth, Malphrus, Amy D, Eng, Patricia A, Hixson, Patricia M, Kang, Sung-Hae L, Stankiewicz, Pawel, Patel, Ankita, Cheung, Sau Wai
Publicado em 2011

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases()

Por Van den Veyver, Ignatia B., Patel, Ankita, Shaw, Chad A., Pursley, Amber N., Kang, Sung-Hae L., Simovich, Marcia J., Ward, Patricia A., Darilek, Sandra, Johnson, Anthony, Neill, Sarah E., Bi, Weimin, White, Lisa D., Eng, Christine M., Lupski, James R., Cheung, Sau Wai, Beaudet, Arthur L.
Publicado em 2009

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

Por 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.
Publicado em 2013

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

Por 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
Publicado em 2012

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

Por 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
Publicado em 2014

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148

Por Dharmadhikari, Avinash V., Kang, Sung-Hae L., Szafranski, Przemyslaw, Person, Richard E., Sampath, Srirangan, Prakash, Siddharth K., Bader, Patricia I., Phillips, John A., Hannig, Vickie, Williams, Misti, Vinson, Sherry S., Wilfong, Angus A., Reimschisel, Tyler E., Craigen, William J., Patel, Ankita, Bi, Weimin, Lupski, James R., Belmont, John, Cheung, Sau Wai, Stankiewicz, Pawel
Publicado em 2012