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

Por Yatsenko, Svetlana A., Brundage, Ellen K., Roney, Erin K., Cheung, Sau Wai, Chinault, A. Craig, Lupski, James R.
Publicado em 2009

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

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

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

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

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

Por 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.
Publicado em 1998

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

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

Por 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.
Publicado em 2009

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

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

Por 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
Publicado em 2012

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

Por 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
Publicado em 2013

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

Por 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
Publicado em 2008

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

Por 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.
Publicado em 2008

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

Por 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.
Publicado em 2008

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

Por 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.
Publicado em 2007

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

Por 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.
Publicado em 2003

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

Por 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.
Publicado no 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

Por 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.
Publicado em 2011

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

Por 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.
Publicado em 2011

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

Por 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
Publicado em 2008