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

Authors

Bo Yuan
Juanita Neira
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, George Washington University
Suneeta Madan-Khetarpal
Lettie Rawlins
Cecilie F Rustad
Asbjørg Stray-Pedersen
Kristian Tveten
Olivia Wenger
Jullianne Diaz
Laura Jenkins
Laura Martin
Marianne McGuire
Marguerite Pietryga
Linda Ramsdell
Leah Slattery
Farida Abid
Alison A 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

Document Type

Journal Article

Publication Date

8-30-2018

Journal

Genetics in medicine : official journal of the American College of Medical Genetics

DOI

10.1038/s41436-018-0085-6

Comments

epub ahead of print

APA Citation

Yuan, B., Neira, J., Pehlivan, D., Santiago-Sim, T., Song, X., Rosenfeld, J., Posey, J., Patel, V., Jin, W., Adam, M., Baple, E., Dean, J., Fong, C., Hickey, S., Hudgins, L., Leon, E., Madan-Khetarpal, S., Rawlins, L., Rustad, C., Stray-Pedersen, A., Tveten, K., Wenger, O., Diaz, J., Jenkins, L., Martin, L., McGuire, M., Pietryga, M., Ramsdell, L., Slattery, L., Abid, F., Bertuch, A., Grange, D., Immken, L., Schaaf, C., Van Esch, H., Bi, W., Cheung, S., Breman, A., Smith, J., Shaw, C., Crosby, A., Eng, C., Yang, Y., Lupski, J., Xiao, R., & Liu, P. (2018). Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.. Genetics in medicine : official journal of the American College of Medical Genetics, (). http://dx.doi.org/10.1038/s41436-018-0085-6

Peer Reviewed

1