Author

Joshua D Smith

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Deborah A Nickerson· 2 shared Angela E Scheuerle· 1 shared Anita E Beck· 1 shared Antonie D Kline· 1 shared Arnaud MonteiliD· 1 shared Catherine L Mercer· 1 shared Cathy A Stevens· 1 shared Chad Haldeman-Englert· 1 shared

Activity by Year

2015-2015 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetics

Deborah A Nickerson

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2 papers

Recent·Most cited

A multivariate genome-wide association analysis of 10 LDL subfractions, and their response to statin treatment, in 1868 Caucasians

Heejung Shim, Daniel I Chasman, Joshua D Smith, Samia Mora, Paul M Ridker, Deborah A Nickerson, Ronald M Krauss, Matthew Stephens

This study performs a genome-wide association analysis of LDL and IDL subfractions and their response to statins in 1868 individuals, identifying strong genetic associations and demonstrating increased power with multivariate analysis.

PLOS ONE · Apr 21, 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