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

بواسطة Yatsenko, Svetlana A., Brundage, Ellen K., Roney, Erin K., Cheung, Sau Wai, Chinault, A. Craig, Lupski, James R.
منشور في 2009

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

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

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

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

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

بواسطة 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.
منشور في 1998

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

بواسطة 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
منشور في 2008

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

بواسطة 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.
منشور في 2009

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

بواسطة 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
منشور في 2010

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

بواسطة 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
منشور في 2012

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

بواسطة 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
منشور في 2013

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

بواسطة 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
منشور في 2008

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

بواسطة 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.
منشور في 2008

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

بواسطة 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.
منشور في 2008

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

بواسطة 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.
منشور في 2007

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

بواسطة 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.
منشور في 2003

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

بواسطة 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.
الحاوية / القاعدة 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

بواسطة 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.
منشور في 2011

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

بواسطة 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.
منشور في 2011

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

بواسطة 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
منشور في 2008