Author

Deborah A Nickerson

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· 4

Signature Assays, Organisms & Methods

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Organism:human· 4 Assay:whole-exome sequencing· 3 Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Approach:statistical model· 2 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Michael J Bamshad· 3 shared Anita E Beck· 2 shared Colby T Marvin· 2 shared Holly K Tabor· 2 shared Jay Shendure· 2 shared Jessica X ChongiD· 2 shared John C Carey· 2 shared Joshua D Smith· 2 shared

Activity by Year

2015-2015 · peak 4/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetics

Michael J Bamshad

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4 papers

Recent·Most cited

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

Jessica Chong, Joon-Ho Yu, Peter Lorentzen, Karen Park, Seema M Jamal, Holly K Tabor, Anita Rauch, Margarita Sifuentes Saenz, Eugen Boltshauser, Karynne E Patterson, Deborah A Nickerson, University of Washington Center for Mendelian Geno, Michael J Bamshad

This paper identifies de novo variants in KDM1A causing a new syndrome with developmental delay and distinctive facial features by leveraging social networking among families and researchers.

bioRxiv · Oct 3, 2015Genetics

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

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