Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome

af Yatsenko, Svetlana A., Brundage, Ellen K., Roney, Erin K., Cheung, Sau Wai, Chinault, A. Craig, Lupski, James R.
Udgivet 2009

Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q

af Shinawi, Marwan, Erez, Ayelet, Shardy, Deborah L., Lee, Brendan, Naeem, Rizwan, Weissenberger, George, Chinault, A. Craig, Cheung, Sau Wai, Plon, Sharon E.
Udgivet 2008

mRTVP-1, a Novel p53 Target Gene with Proapoptotic Activities

af Ren, Chengzhen, Li, Likun, Goltsov, Alexei A., Timme, Terry L., Tahir, Salahaldin A., Wang, Jianxiang, Garza, Laura, Chinault, A. Craig, Thompson, Timothy C.
Udgivet 2002

Integrated YAC Contig Map of the Prader–Willi/Angelman Region on Chromosome 15q11–q13 with Average STS Spacing of 35 kb

af Christian, Susan L., Bhatt, Nehal K., Martin, Scott A., Sutcliffe, James S., Kubota, Takeo, Huang, Bing, Mutirangura, Apiwat, Chinault, A. Craig, Beaudet, Arthur L., Ledbetter, David H.
Udgivet 1998

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

af 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
Udgivet 2008

Microarray-Based Comparative Genomic Hybridization Using Sex-Matched Reference DNA Provides Greater Sensitivity for Detection of Sex Chromosome Imbalances than Array-Comparative Ge...

af Yatsenko, Svetlana A., Shaw, Chad A., Ou, Zhishuo, Pursley, Amber N., Patel, Ankita, Bi, Weimin, Cheung, Sau Wai, Lupski, James R., Chinault, A. Craig, Beaudet, Arthur L.
Udgivet 2009

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

af 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
Udgivet 2010

Genomic Hypomethylation in the Human Germline Associates with Selective Structural Mutability in the Human Genome

af Li, Jian, Harris, R. Alan, Cheung, Sau Wai, Coarfa, Cristian, Jeong, Mira, Goodell, Margaret A., White, Lisa D., Patel, Ankita, Kang, Sung-Hae, Shaw, Chad, Chinault, A. Craig, Gambin, Tomasz, Gambin, Anna, Lupski, James R., Milosavljevic, Aleksandar
Udgivet 2012

Confounding by Repetitive Elements and CpG Islands Does Not Explain the Association between Hypomethylation and Genomic Instability

af Harris, R. Alan, Shaw, Chad, Li, Jian, Cheung, Sau Wai, Coarfa, Cristian, Jeong, Mira, Goodell, Margaret A., White, Lisa D., Patel, Ankita, Kang, Sung-Hae, Chinault, A. Craig, Gambin, Tomasz, Gambin, Anna, Lupski, James R., Milosavljevic, Aleksandar
Udgivet 2013

22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome

af 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
Udgivet 2008

Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis

af Lu, Xin-Yan, Phung, Mai T., Shaw, Chad A., Pham, Kim, Neil, Sarah E., Patel, Ankita, Sahoo, Trilochan, Bacino, Carlos A., Stankiewicz, Pawel, Lee Kang, Sung-Hae, Lalani, Seema, Chinault, A. Craig, Lupski, James R., Cheung, Sau W., Beaudet, Arthur L.
Udgivet 2008

Identification of Chromosome Abnormalities in Subtelomeric Regions by Microarray Analysis: A Study of 5,380 Cases

af 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.
Udgivet 2008

Clinical Implementation of Chromosomal Microarray Analysis: Summary of 2513 Postnatal Cases

af 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.
Udgivet 2007

Disruption of the Caveolin-1 Gene Impairs Renal Calcium Reabsorption and Leads to Hypercalciuria and Urolithiasis

af Cao, Guangwen, Yang, Guang, Timme, Terry L., Saika, Takashi, Truong, Luan D., Satoh, Takefumi, Goltsov, Alexei, Park, Sang Hee, Men, Taoyan, Kusaka, Nobuyuki, Tian, Weihua, Ren, Chengzhen, Wang, Hongyu, Kadmon, Dov, Cai, Wei Wen, Chinault, A. Craig, Boone, Timothy B., Bradley, Allan, Thompson, Timothy C.
Udgivet 2003

Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange

af Yan, Jiong, Zhang, Feng, Brundage, Ellen, Scheuerle, Angela, Lanpher, Brendan, Erickson, Robert P., Powis, Zoe, Robinson, Haynes B., Trapane, Pamela L., Stachiw-Hietpas, Danuta, Keppler-Noreuil, Kim M., Lalani, Seema R., Sahoo, Trilochan, Chinault, A. Craig, Patel, Ankita, Cheung, Sau Wai, Lupski, James R.
Udgivet i J Med Genet (2008)

Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE

af Celestino-Soper, Patricia B.S., Shaw, Chad A., Sanders, Stephan J., Li, Jian, Murtha, Michael T., Ercan-Sencicek, A. Gulhan, Davis, Lea, Thomson, Susanne, Gambin, Tomasz, Chinault, A. Craig, Ou, Zhishuo, German, Jennifer R., Milosavljevic, Aleksandar, Sutcliffe, James S., Cook, Edwin H., Stankiewicz, Pawel, State, Matthew W., Beaudet, Arthur L.
Udgivet 2011

Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

af 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.
Udgivet 2011

20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits

af Lalani, Seema R, Thakuria, Joseph V, Cox, Gerald F, Wang, Xueqing, Bi, Weimin, Bray, Molly S, Shaw, Chad, Cheung, Sau W, Chinault, A Craig, Boggs, Barbara A, Ou, Zhishuo, Brundage, Ellen K, Lupski, James R, Gentile, Jennifer, Waisbren, Susan, Pursley, Amber, Ma, Lijiang, Khajavi, Mehrdad, Zapata, Gladys, Friedman, Richard, Kim, Jeffrey J, Towbin, JA, Stankiewicz, Pawel, Schnittger, Susanne, Hansmann, Ingo, Ai, Tomohiko, Sood, Subeena, Wehrens, Xander H, Martin, James F, Belmont, John W, Potocki, Lorraine
Udgivet 2008