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

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, Lorenzo Stella, Lisa Worgan, Jennifer C Dempsey, Alina Nguyen, Vincenzo Leuzzi, Richard Webster, Antonio Pizzuti, Colby T Marvin, Gisele E Ishak, Simone Ardern-Holmes, Zara Richmond, Univ of Washington Center for Mendelian Genomics, , Dan Doherty

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

bioRxiv · Jan 6, 2016 · PreprintGenetics

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

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