Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

TitleClinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Publication TypeJournal Article
AuthorsYuan, B, Neira, J, Pehlivan, D, Santiago-Sim, T, Song, X, Rosenfeld, J, Posey, JE, Patel, V, Jin, W, Adam, MP, Baple, EL, Dean, J, Fong, C-T, Hickey, SE, Hudgins, L, Leon, E, Madan-Khetarpal, S, Rawlins, L, Rustad, CF, Stray-Pedersen, A, Tveten, K, Wenger, O, Diaz, J, Jenkins, L, Martin, L, McGuire, M, Pietryga, M, Ramsdell, L, Slattery, L, Abid, F, Bertuch, AA, Grange, D, Immken, LD, Schaaf, CP, Van Esch, H, Bi, W, Cheung, SWai, Breman, AM, Smith, JL, Shaw, C, Crosby, AH, Eng, C, Yang, Y, Lupski, JR, Xiao, R, Liu, P
Corporate AuthorsDDD study
PubMed ID30158690
Grant ListK08 HG008986 / HG / NHGRI NIH HHS / United States
R01 NS058529 / NS / NINDS NIH HHS / United States
R35 NS105078 / NS / NINDS NIH HHS / United States
UM1 HG006542 / HG / NHGRI NIH HHS / United States