William P. Bone
Recursion (United States)(US)
Publications by Year
Research Areas
Genetic Associations and Epidemiology, Genomics and Rare Diseases, Cancer-related molecular mechanisms research, RNA Research and Splicing, Bioinformatics and Genomic Networks
Most-Cited Works
- → Next-generation diagnostics and disease-gene discovery with the Exomiser(2015)452 cited
- → Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure(2022)139 cited
- → PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases(2015)130 cited
- → Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency(2015)111 cited
- → York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1(2014)107 cited
- → Natural human genetic variation determines basal and inducible expression of PM20D1 , an obesity-associated gene(2019)47 cited
- → High-resolution genome-wide mapping of chromosome-arm-scale truncations induced by CRISPR–Cas9 editing(2024)41 cited
- → Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome(2015)36 cited
- → Multi-trait association studies discover pleiotropic loci between Alzheimer’s disease and cardiometabolic traits(2021)34 cited
- → Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration(2015)33 cited