TY  -  
T1  - Identification of novel candidate disease genes from de novo exonic copy number variants 
SN  -  /  
UR  - http://hdl.handle.net/10138/225108 
T3  -  
A1  - Gambin, Tomasz; Yuan, Bo; Bi, Weimin; Liu, Pengfei; Rosenfeld, Jill A.; Coban-Akdemir, Zeynep; Pursley, Amber N.; Nagamani, Sandesh C. S.; Marom, Ronit; Golla, Sailaja; Dengle, Lauren; Petrie, Heather G.; Matalon, Reuben; Emrick, Lisa; Proud, Monica B.; Treadwell-Deering, Diane; Chao, Hsiao-Tuan; Koillinen, Hannele; Brown, Chester; Urraca, Nora; Mostafavi, Roya; Bernes, Saunder; Roeder, Elizabeth R.; Nugent, Kimberly M.; Bader, Patricia I.; Bellus, Gary; Cummings, Michael; Northrup, Hope; Ashfaq, Myla; Westman, Rachel; Wildin, Robert; Beck, Anita E.; Immken, LaDonna; Elton, Lindsay; Varghese, Shaun; Buchanan, Edward; Faivre, Laurence; Lefebvre, Mathilde; Schaaf, Christian P.; Walkiewicz, Magdalena; Yang, Yaping; Kang, Sung-Hae L.; Lalani, Seema R.; Bacino, Carlos A.; Beaudet, Arthur L.; Breman, Amy M.; Smith, Janice L.; Cheung, Sau Wai; Lupski, James R.; Patel, Ankita; Shaw, Chad A.; Stankiewicz, Pawel 
A2  -  
PB  -  
Y1  - 2017 
LA  - eng 
AB  - Background: Exon-targeted microarrays can detect small ( Methods: We retrospectively analyzed data from 63,127 patients referred for clinical chromosomal microarray analysis (CMA) at Baylor Genetics laboratories, including 46,755 individuals tested using exon-targeted arrays, from 2007 to 2017. Small CNVs harboring a single gene or two to five non-disease-associated genes were identified; the genes involved were evaluated for a potential disease association. Results: In this clinical population,... 
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KW  - Exon targeted array CGH; Intragenic copy number variants; CNVs; de novo variants; AUTISM SPECTRUM DISORDER; PERSISTENT GASTROESOPHAGEAL-REFLUX; SYNDROMIC DEVELOPMENTAL DELAY; CLINICAL DIAGNOSTIC-TEST; INTELLECTUAL DISABILITY; ARRAY CGH; CHROMOSOMAL MICROARRAY; MENDELIAN DISORDERS; GENOMIC DISORDERS; COGNITIVE PHENOTYPES; 3111 Biomedicine; 1184 Genetics, developmental biology, physiology 
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