William P. Bone

Next-generation diagnostics and disease-gene discovery with the Exomiser

Damian Smedley, Julius O.B. Jacobsen, Marten Jäger et al. · Nature Protocols · 2015 · 435 citations · Full text

Disease-gene Discovery, Functional Genomics, Engineering +8

PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases

Orion J. Buske, Marta Gîrdea, Sergiu Dumitriu et al. · Human Mutation · 2015 · 124 citations · Full text

Genetics, Pathology, Genomics +21

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

William P. Bone, Nicole Washington, Orion J. Buske et al. · Genetics in Medicine · 2015 · 111 citations · Full text

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1

Thomas C. Markello, Dong Chen, Justin Kwan et al. · Molecular Genetics and Metabolism · 2014 · 106 citations · Full text

York Platelet Syndrome, Mendelian Disorder, Blood Platelet +7

Natural human genetic variation determines basal and inducible expression of <i>PM20D1</i> , an obesity-associated gene

Kiara K. Benson, Wenxiang Hu, Angela H. Weller et al. · Proceedings of the National Academy of Sciences · 2019 · 46 citations · Full text