scispace - formally typeset
R

Richard K. Wilson

Researcher at Nationwide Children's Hospital

Publications -  501
Citations -  294778

Richard K. Wilson is an academic researcher from Nationwide Children's Hospital. The author has contributed to research in topics: Genome & Gene. The author has an hindex of 173, co-authored 463 publications receiving 260000 citations. Previous affiliations of Richard K. Wilson include University of Washington & St. Jude Children's Research Hospital.

Papers
More filters
Journal ArticleDOI

Exome-Based Mapping and Variant Prioritization for Inherited Mendelian Disorders

TL;DR: A scoring algorithm is developed to prioritize potential causal variants within a family according to segregation with the phenotype, population frequency, predicted effect, and gene expression in the tissue(s) of interest, and to narrow the search space in families with multiple affected individuals.
Journal ArticleDOI

Sequencing human–gibbon breakpoints of synteny reveals mosaic new insertions at rearrangement sites

TL;DR: Analysis of 24 synteny breakpoints in the white-cheeked gibbon provides a model for a replication-dependent repair mechanism for double-strand breaks (DSBs) at rearrangement sites and insights into the structure and formation of primate segmental duplications at sites of genomic rearrangements during evolution.
Journal ArticleDOI

Association of Tumor Microenvironment T-cell Repertoire and Mutational Load with Clinical Outcome after Sequential Checkpoint Blockade in Melanoma.

TL;DR: Mutational and neoantigen load, and T-cell infiltrate within the tumor, were associated with outcome of sequential checkpoint inhibition using nivolumab then ipilimumab, but not when ipILimumab was administered before nivlumab.