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Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Crossref DOI link: https://doi.org/10.1038/s41436-018-0085-6

Published Print: 2019-03

Update policy: https://doi.org/10.1016/elsevier_cm_policy

Authors

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
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Text and Data Mining valid from 2019-03-01

Text and Data Mining valid from 2019-03-01

Version of Record valid from 2022-01-19
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This article is maintained by: Elsevier

Article Title: Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Journal Title: Genetics in Medicine

CrossRef DOI link to publisher maintained version: https://doi.org/10.1038/s41436-018-0085-6

Content Type: article

Copyright: © 2019, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics