Author

Jay Shendure

Primary ORCID profile (0000-0002-1516-1865 · 107 papers)Unclaimed ORCID profile · follow to get notified of new preprints

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Same name, identified by ORCID

Jay ShendureiD107 papers · Howard Hughes Medical Institute

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:whole-exome sequencing· 2 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Anita E Beck· 2 shared Colby T Marvin· 2 shared Deborah A Nickerson· 2 shared Jessica X ChongiD· 2 shared John C Carey· 2 shared Kathryn M Shively· 2 shared Kati J Buckingham· 2 shared Margaret J McMillin· 2 shared

Activity by Year

2015-2015 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetics

Anita E Beck

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2 papers

Recent·Most cited

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

Jessica X Chong, Lindsay C Burrage, Anita E Beck, Colby T Marvin, Margaret J McMillin, Kathryn M Shively, Kati J Buckingham, Carlos A Bacino, Mahim Jain, Yasemin Alanay, Susan A Berry, John C Carey, Richard A Gibbs, Brendan H Lee, Deborah Krakow, , Michael J Bamshad

This study identifies mutations in MYH3 as the cause of autosomal dominant multiple pterygium syndrome, with mutations in the tail domain of the protein.

The American Journal of Human Genetics · May 1, 2015Peer-reviewedGenetics

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

Jessica X Chong, Margaret J McMillin, Kathryn M Shively, Anita E Beck, Colby T Marvin, Jose R Armenteros, Kati J Buckingham, Naomi T Nkinsi, Evan A Boyle, Margaret N Berry, Maureen Bocian, Nicola Foulds, Maria Luisa Giovannucci Uzielli, Chad Haldeman-Englert, Raoul CM Hennekam, , Michael J Bamshad

This study identifies de novo NALCN mutations causing a new syndrome with congenital contractures, hypotonia, and developmental delay, distinct from known DA2A.

bioRxiv · Jan 11, 2015Genetics