Author

Colby T Marvin

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Biology Disciplines

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Organism:human· 3 Assay:whole-exome sequencing· 3 Research Focus:gene regulatory network inference· 2 Approach:statistical model· 2 Approach:experimental assay· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Jessica X ChongiD· 3 shared Michael J Bamshad· 3 shared Anita E Beck· 2 shared Deborah A Nickerson· 2 shared Jay Shendure· 2 shared John C Carey· 2 shared Kathryn M Shively· 2 shared Kati J Buckingham· 2 shared

Activity by Year

2015-2016 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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3 shared papersGenetics

Jessica X ChongORCID

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3 papers

Recent·Most cited

GeneticsbioRxivPreprintJan 6, 2016

Recessive inactivating mutations in TBCK, encoding a Rab GTPase-activating protein that modulates mTOR signaling, cause severe infantile syndromic encephalopathy

Jessica X Chong, Viviana Caputo, Ian G Phelps…·Dan Doherty

This study identifies biallelic TBCK mutations causing a severe infantile encephalopathy with developmental disability and brain atrophy.

DOI 10.1101/036111

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsThe American Journal of Human GeneticsPeer-reviewedMay 1, 2015

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

Jessica X Chong, Lindsay C Burrage, Anita E Beck…·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.

DOI 10.1016/j.ajhg.2015.04.004

humanwhole-exome sequencing

𝕏 PostBluesky

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

𝕏 PostBluesky