Author

Dan Doherty

Primary ORCID profile (0000-0001-9377-028X · 8 papers)Unclaimed ORCID profile · follow to get notified of new preprints

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Same name, identified by ORCID

Dan DohertyiD8 papers · University of Washington

Biology Disciplines

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

Frequent Co-Authors

Alina Nguyen· 1 shared Antonio Pizzuti· 1 shared Colby T Marvin· 1 shared Gisele E Ishak· 1 shared Ian G Phelps· 1 shared Jennifer C Dempsey· 1 shared Jessica X ChongiD· 1 shared Lisa Worgan· 1 shared

Activity by Year

2016-2016 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Alina Nguyen

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1 paper

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