Search Results - "CRAIG CHINAULT, A"

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

“…Autism is a neurodevelopmental disorder with increasing evidence of heterogeneous genetic etiology including de novo and inherited copy number variants (CNVs)…”
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22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome by 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

“…Microdeletions within chromosome 22q11.2 cause a variable phenotype, including DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). About 97% of…”
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Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases by 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

“…Array Comparative Genomic Hybridization (a-CGH) is a powerful molecular cytogenetic tool to detect genomic imbalances and study disease mechanism and…”
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Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis by Lu, Xin-Yan, Phung, Mai T, Shaw, Chad A, Pham, Kim, Neil, Sarah E, Patel, Ankita, Sahoo, Trilochan, Bacino, Carlos A, Stankiewicz, Pawel, Kang, Sung-Hae Lee, Lalani, Seema, Chinault, A. Craig, Lupski, James R, Cheung, Sau W, Beaudet, Arthur L

“…Our aim was to determine the frequency of genomic imbalances in neonates with birth defects by using targeted array-based comparative genomic hybridization,…”
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Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization by Gaudio, Daniela del, Yang, Yaping, Boggs, Barbara A, Schmitt, Eric S, Lee, Jennifer A, Sahoo, Trilochan, Pham, Hoang T, Wiszniewska, Joanna, Craig Chinault, A, Beaudet, Arthur L, Eng, Christine M

“…The dystrophinopathies, which include Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and X-linked dilated cardiomyopathy, are X-linked…”
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Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome by 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

“…The hotspots of structural polymorphisms and structural mutability in the human genome remain to be explained mechanistically. We examine associations of…”
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MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development by Lalani, Seema R, Ware, Stephanie M, Wang, Xueqing, Zapata, Gladys, Tian, Qi, Franco, Luis M, Jiang, Zhengxin, Bucasas, Kristine, Scott, Daryl A, Campeau, Philippe M, Hanchard, Neil, Umaña, Luis, Cast, Ashley, Patel, Ankita, Cheung, Sau W, McBride, Kim L, Bray, Molly, Craig Chinault, A, Boggs, Barbara A, Huang, Miao, Baker, Mariah R, Hamilton, Susan, Towbin, Jeff, Jefferies, John L, Fernbach, Susan D, Potocki, Lorraine, Belmont, John W

“…Coarctation of the aorta (CoA) and hypoplastic left heart syndrome (HLHS) have been reported in rare individuals with large terminal deletions of chromosome…”
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Development and validation of a CGH microarray for clinical cytogenetic diagnosis by Cheung, Sau W., Shaw, Chad A., Yu, Wei, Li, Jiangzham, Ou, Zhishuo, Patel, Ankita, Yatsenko, Svetlana A., Cooper, Mitchell L., Furman, Patti, Stankiewicz, Pawal, Lupski, James R., Chinault, A Craig, Beaudet, Arthur L.

“…We developed a microarray for clinical diagnosis of chromosomal disorders using large insert genomic DNA clones as targets for comparative genomic…”
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Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes by 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

“…Four unrelated families with the same unbalanced translocation der(4)t(4;11)(p16.2;p15.4) were analyzed. Both of the breakpoint regions in 4p16.2 and 11p15.4…”
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Utility of Oligonucleotide Array-Based Comparative Genomic Hybridization for Detection of Target Gene Deletions by Wong, Lee-Jun C, Dimmock, David, Geraghty, Michael T, Quan, Richard, Lichter-Konecki, Uta, Wang, Jing, Brundage, Ellen K, Scaglia, Fernando, Chinault, A. Craig

“…direct DNA sequencing is the primary clinical technique for identifying mutations in human disease, but sequencing often does not detect intragenic or…”
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Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q by Shinawi, Marwan, Erez, Ayelet, Shardy, Deborah L., Lee, Brendan, Naeem, Rizwan, Weissenberger, George, Chinault, A.Craig, Cheung, Sau Wai, Plon, Sharon E.

“…Several lines of evidence support the presence of dosage-sensitive genes on chromosome 21 that regulate leukemogenesis and hematopoiesis. We report a detailed…”
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Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases by 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.

“…Subtelomeric imbalances are a significant cause of congenital disorders. Screening for these abnormalities has traditionally utilized GTG‐banding analysis,…”
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Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results by 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

“…Insertional translocations (ITs) are rare events that require at least three breaks in the chromosomes involved and thus qualify as complex chromosomal…”
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Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization by Sahoo, Trilochan, Cheung, Sau Wai, Ward, Patricia, Darilek, Sandra, Patel, Ankita, del Gaudio, Daniela, Kang, Sung Hae L., Lalani, Seema R., Li, Jiangzhen, McAdoo, Sallie, Burke, Audrey, Shaw, Chad A., Stankiewicz, Pawel, Chinault, A. Craig, Van den Veyver, Ignatia B., Roa, Benjamin B., Beaudet, Arthur L., Eng, Christine M.

“…Purpose: This study was designed to evaluate the feasibility of using a targeted array-CGH strategy for prenatal diagnosis of genomic imbalances in a clinical…”
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Glioma Pathogenesis-Related Protein 1 Exerts Tumor Suppressor Activities through Proapoptotic Reactive Oxygen Species-c-Jun-NH2 Kinase Signaling by LIKUN LI, FATTAH, Elmoataz Abdel, GUANGWEN CAO, CHENGZHEN REN, GUANG YANG, GOLTSOV, Alexei A, CHINAULT, A. Craig, CAI, Wei-Wen, TIMME, Terry L, THOMPSON, Timothy C

“…Glioma pathogenesis-related protein 1 (GLIPR1), a novel p53 target gene, is down-regulated by methylation in prostate cancer and has p53-dependent and…”
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High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase ( OTC) locus by oligonucleotide array CGH by Shchelochkov, Oleg A., Li, Fang-Yuan, Geraghty, Michael T., Gallagher, Renata C., Van Hove, Johan L., Lichter-Konecki, Uta, Fernhoff, Paul M., Copeland, Sara, Reimschisel, Tyler, Cederbaum, Stephen, Lee, Brendan, Chinault, A. Craig, Wong, Lee-Jun

“…Ornithine transcarbamylase (OTC) deficiency is an X-linked inborn error of metabolism characterized by impaired synthesis of citrulline from carbamylphosphate…”
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Confounding by repetitive elements and CpG islands does not explain the association between hypomethylation and genomic instability by 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

“…[...]Watson et al. bring up mappability of reads as a confounding factor while failing to mention that the original paper [1] considered and--using bisulfite…”
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A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies by Jensen, Daniel R., Martin, Donna M., Gebarski, Stephen, Sahoo, Trilochan, Brundage, Ellen K., Chinault, A. Craig, Otto, Edgar A., Chaki, Moumita, Hildebrandt, Friedhelm, Cheung, Sau Wai, Lesperance, Marci M.

“…We describe a patient with multiple congenital anomalies including deafness, lacrimal duct stenosis, strabismus, bilateral cervical sinuses, congenital cardiac…”
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Disruption of the Caveolin-1 Gene Impairs Renal Calcium Reabsorption and Leads to Hypercalciuria and Urolithiasis by 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.

“…Using Lox P/Cre technology, we generated a knockout mouse homozygous for a null mutation in exon 2 of Cav1 . In male Cav1 −/− animals, we observed a dramatic…”
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Functional identification of LZTS1 as a candidate prostate tumor suppressor gene on human chromosome 8p22 by CABEZA-ARVELAIZ, Yofre, SEPULVEDA, Jorge L, LEBOVITZ, Russell M, THOMPSON, Timothy C, CRAIG CHINAULT, A

“…Deletions in the 8p21-22 region of the human genome are among the most common genetic alterations in prostate carcinomas. Several studies in different tumor…”
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