Author

Antonie D Kline

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Genetics· 1

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Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Assay:whole-exome sequencing· 1

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Angela E Scheuerle· 1 shared Anita E Beck· 1 shared Arnaud MonteiliD· 1 shared Catherine L Mercer· 1 shared Cathy A Stevens· 1 shared Chad Haldeman-Englert· 1 shared Colby T Marvin· 1 shared Deborah A Nickerson· 1 shared

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2015-2015 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Angela E Scheuerle

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1 paper

Recent·Most cited

GeneticsbioRxivJan 11, 2015

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…·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.

DOI 10.1016/j.ajhg.2015.01.003

humanwhole-exome sequencing

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