Article
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
by
Bo Yuan;
Juanita Neira Fresneda;
Davut Pehlivan;
Teresa Santiago-Sim;
Xiaofei Song;
Jill Rosenfeld;
Jennifer E. Posey;
Vipulkumar Patel;
Weihong Jin;
Margaret P. Adam;
Emma L. Baple;
John Dean;
Chin-To Fong;
Scott E. Hickey;
Louanne Hudgins;
Eyby Leon;
Suneeta Madan-Khetarpal;
Lettie Rawlins;
Cecilie F. Rustad;
Asbjorg Stray-Pedersen;
Kristian Tveten;
Olivia Wenger;
Jullianne Diaz;
Laura Jenkins;
Laura Martin;
Marianne McGuire;
Marguerite Pietryga;
Linda Ramsdell;
Leah Slattery;
Farida Abid;
Alison Bertuch;
Dorothy Grange;
LaDonna Immken;
Christian P Schaaf;
Hilde Van Esch;
Weimin Bi;
Sau Wai Cheung;
Amy M. Breman;
Janice L. Smith;
Chad Shaw;
Andrew H. Crosby;
Christine Eng;
Yaping Yang;
James R. Lupski;
Rui Xiao;
Pengfei Liu
2019