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

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

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

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

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

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

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

ανά 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.
Έκδοση 1998

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

ανά 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
Έκδοση 2008

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

ανά 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.
Έκδοση 2009

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

ανά 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
Έκδοση 2010

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

ανά 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
Έκδοση 2012

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

ανά 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
Έκδοση 2013

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

ανά 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
Έκδοση 2008

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

ανά 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.
Έκδοση 2008

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

ανά 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.
Έκδοση 2008

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

ανά 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.
Έκδοση 2007

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

ανά 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.
Έκδοση 2003

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

ανά 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.
Τόπος έκδοσης 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

ανά 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.
Έκδοση 2011

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

ανά 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.
Έκδοση 2011

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

ανά 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
Έκδοση 2008