author-photo

William P. Bone

National Institutes of Health

15

Papers

486

Citations

Citation Trend

Filter By

Papers (10) Sort By

Journal Conference Others

Abstract 11946: Comparison of Unsupervised Learning Approaches Applied to Electronic Health Record Traits in Heart Failure

2021 Circulation
Show All
- Source
- Cite
- Save
Citations (0)
42855 A Phenomics Approach to the Categorization and Refinement of Heart Failure

2021
Show All
- Source
- Cite
- Save
Citations (0)
Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

2017 Annals of clinical and translational neurology
Show All
- Source
- Cite
- Save
Citations (9)
Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration

2016 Journal of Medical Genetics
Show All
- Source
- Cite
- Save
Citations (16)
Explorations to improve the completeness of exome sequencing

2016 BMC Medical Genomics
Show All
- Source
- Cite
- Save
Citations (7)
Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience

2016 Frontiers of Medicine in China
Show All
- Source
- Cite
- Save
Citations (2)
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.

2016 Genetics in Medicine
Show All
- Source
- Cite
- Save
Citations (72)
MED23‐associated intellectual disability in a non‐consanguineous family

2015 American Journal of Medical Genetics Part A
Show All
- Source
- Cite
- Save
Citations (13)
Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome

2015 Orphanet Journal of Rare Diseases
Show All
- Source
- Cite
- Save
Citations (17)
Next-generation diagnostics and disease-gene discovery with the Exomiser

2015 Nature Protocols
Show All
- Source
- Cite
- Save
Citations (165)