Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Bo Yuan(Second Military Medical University), Pengfei Liu(Macau University of Science and Technology), Jennifer E. Posey(Baylor College of Medicine), Cecilie F. Rustad(Oslo University Hospital), Leah Slattery(Stanford University), Dorothy K. Grange(Washington University in St. Louis), Farida Abid(Texas Children's Hospital), Amy M. Breman(Baylor College of Medicine), Vipulkumar Patel(Baylor Genetics), Louanne Hudgins(Lucile Packard Children's Hospital), Laura Martin(University of Rochester Medical Center), Juanita Neira(Texas Children's Hospital), Davut Pehli̇van(Baylor College of Medicine), Christian P. Schaaf(University of Cologne), Weihong Jin(Baylor Genetics), Kristian Tveten(Telemark Hospital), Rui Xiao(Baylor Genetics), Teresa Santiago‐Sim(Baylor Genetics), Andrew H. Crosby(University of Exeter), Linda Ramsdell(University of Washington), Jill A. Rosenfeld(Baylor College of Medicine), Marianne McGuire(Baylor College of Medicine), Sau Wai Cheung(Chinese University of Hong Kong), Alison A. Bertuch(Baylor College of Medicine), Laura Jenkins(Children's Hospital of Pittsburgh), Hilde Van Esch, Chad A. Shaw(Baylor College of Medicine), Margaret P Adam(University of Washington), Asbjørg Stray‐Pedersen(Baylor College of Medicine), John Dean(University of Aberdeen), Jullianne Diaz(Children's National), Marguerite Pietryga(Baylor College of Medicine), Scott E. Hickey(Nationwide Children's Hospital), Lettie E. Rawlins(Royal Devon and Exeter Hospital), Janice Smith(Baylor Genetics), Suneeta Madan‐Khetarpal(Children's Hospital of Pittsburgh), Emma L. Baple(University of Exeter), Olivia Wenger(Clinic for Special Children), Weimin Bi(Zhejiang A & F University), Yaping Yang(Jiangsu University), Xiaofei Song(Baylor College of Medicine), Christine M. Eng(Baylor College of Medicine), LaDonna Immken(Dell Children's Medical Center of Central Texas), James R. Lupski(Baylor College of Medicine), Chin‐To Fong(University of Rochester Medical Center), Eyby Leon(Children's National)
Genetics in Medicine
August 28, 2018
Cited by 88


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