Author

Holly K Tabor

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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Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Assay:whole-exome sequencing· 2

Frequent Co-Authors

Deborah A Nickerson· 2 shared Michael J Bamshad· 2 shared Angela E Scheuerle· 1 shared Anita E Beck· 1 shared Anita Rauch· 1 shared Antonie D Kline· 1 shared Arnaud MonteiliD· 1 shared Catherine L Mercer· 1 shared

Activity by Year

2015-2015 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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2 shared papersGenetics

Deborah A Nickerson

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2 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

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