Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

• 期刊名称Genetics in Medicine
• 作者Yuan, Bo; Neira, Juanita; Pehlivan, Davut; Santiago-Sim, Teresa; Song, Xiaofei; Rosenfeld, Jill; Posey, Jennifer E.; Patel, Vipulkumar; Jin, Weihong; Adam, Margaret P.; Baple, Emma L.; Dean, John; Fong, Chin-To; Hickey, Scott E.; Hudgins, Louanne; Leon, Eyby; Madan-Khetarpal, Suneeta; Rawlins, Lettie; Rustad, Cecilie F.; Stray-Pedersen, Asbjørg; Tveten, Kristian; Wenger, Olivia; Diaz, Jullianne; Jenkins, Laura; Martin, Laura; McGuire, Marianne; Pietryga, Marguerite; Ramsdell, Linda; Slattery, Leah; Abid, Farida; Bertuch, Alison A.; Grange, Dorothy; Immken, LaDonna; Schaaf, Christian P.; Van Esch, Hilde; Bi, Weimin; Cheung, Sau Wai; Breman, Amy M.; Smith, Janice L.; Shaw, Chad; Crosby, Andrew H.; Eng, Christine; Yang, Yaping; Lupski, James R.; Xiao, Rui; Liu, Pengfei
• 印刷ISSN1098-3600
• 电子ISSN1530-0366
• 文件大小608.68KB
• 发表时间2018-8-30
• DOI10.1038/s41436-018-0085-6