Author

Zara Richmond

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

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 Dan Doherty· 1 shared Gisele E Ishak· 1 shared Ian G Phelps· 1 shared Jennifer C Dempsey· 1 shared Jessica X ChongiD· 1 shared

Activity by Year

2016-2016 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetics

Alina Nguyen

Mutual co-authors in cluster

Author profile →

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