William  Paul Bone
William Paul Bone
Genomics and Computational Biology Graduate Student, University of Pennsylvania
Verified email at
Cited by
Cited by
Next-generation diagnostics and disease-gene discovery with the Exomiser
D Smedley, JOB Jacobsen, M Jäger, S Köhler, M Holtgrewe, M Schubach, ...
Nature protocols 10 (12), 2004-2015, 2015
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases
OJ Buske, M Girdea, S Dumitriu, B Gallinger, T Hartley, H Trang, ...
Human mutation 36 (10), 931-940, 2015
York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1
T Markello, D Chen, JY Kwan, I Horkayne-Szakaly, A Morrison, ...
Molecular genetics and metabolism 114 (3), 474-482, 2015
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency
WP Bone, NL Washington, OJ Buske, DR Adams, J Davis, D Draper, ...
Genetics in Medicine 18 (6), 608-617, 2016
Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder-Robinson syndrome
JS Albert, N Bhattacharyya, LA Wolfe, WP Bone, V Maduro, J Accardi, ...
Orphanet journal of rare diseases 10, 1-13, 2015
Natural human genetic variation determines basal and inducible expression of PM20D1, an obesity-associated gene
KK Benson, W Hu, AH Weller, AH Bennett, ER Chen, SA Khetarpal, ...
Proceedings of the National Academy of Sciences 116 (46), 23232-23242, 2019
Defining disease, diagnosis, and translational medicine within a homeostatic perturbation paradigm: The national institutes of health undiagnosed diseases program experience
T Gall, E Valkanas, C Bello, T Markello, C Adams, WP Bone, AJ Brandt, ...
Frontiers in medicine 4, 62, 2017
Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration
M Davids, MS Kane, M He, LA Wolfe, X Li, MA Raihan, KR Chao, ...
Journal of medical genetics 53 (3), 180-189, 2016
Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure
MG Levin, NL Tsao, P Singhal, C Liu, HMT Vy, I Paranjpe, JD Backman, ...
Nature Communications 13 (1), 6914, 2022
MED23‐associated intellectual disability in a non‐consanguineous family
A Trehan, JM Brady, V Maduro, WP Bone, Y Huang, GA Golas, MS Kane, ...
American Journal of Medical Genetics Part A 167 (6), 1374-1380, 2015
Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy
M Kambouris, J Thevenon, A Soldatos, A Cox, J Stephen, T Ben‐Omran, ...
Annals of clinical and translational neurology 4 (1), 26-35, 2017
Multi-trait association studies discover pleiotropic loci between Alzheimer’s disease and cardiometabolic traits
WP Bone, KM Siewert, A Jha, D Klarin, SM Damrauer, KM Chang, ...
Alzheimer's research & therapy 13, 1-14, 2021
Explorations to improve the completeness of exome sequencing
C Du, BN Pusey, CJ Adams, CC Lau, WP Bone, WA Gahl, TC Markello, ...
BMC medical genomics 9, 1-11, 2016
Detecting potential pleiotropy across cardiovascular and neurological diseases using univariate, bivariate, and multivariate methods on 43,870 individuals from the eMERGE network
X Zhang, Y Veturi, S Verma, W Bone, A Verma, A Lucas, S Hebbring, ...
BIOCOMPUTING 2019: Proceedings of the Pacific Symposium, 272-283, 2018
Regulation of cellular sterol homeostasis by the oxygen responsive noncoding RNA lincNORS
X Wu, CM Niculite, MB Preda, A Rossi, T Tebaldi, E Butoi, MK White, ...
Nature communications 11 (1), 4755, 2020
Multi‐phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations
G Temprano‐Sagrera, CM Sitlani, WP Bone, M Martin‐Bornez, BF Voight, ...
Journal of thrombosis and haemostasis 20 (6), 1331-1349, 2022
Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders
X Zhang, AM Lucas, Y Veturi, TG Drivas, WP Bone, A Verma, WK Chung, ...
Nature communications 13 (1), 3428, 2022
ColocQuiaL: a QTL-GWAS colocalization pipeline
BY Chen, WP Bone, K Lorenz, M Levin, MD Ritchie, BF Voight
Bioinformatics 38 (18), 4409-4411, 2022
Evaluating the Contribution of Cell Type–Specific Alternative Splicing to Variation in Lipid Levels
KAB Gawronski, WP Bone, YS Park, EE Pashos, BM Wenz, MF Dudek, ...
Circulation: Genomic and Precision Medicine 16 (3), 248-257, 2023
High-resolution genome-wide mapping of chromosome-arm-scale truncations induced by CRISPR-Cas9 editing
NH Lazar, S Celik, L Chen, M Fay, JC Irish, J Jensen, CA Tillinghast, ...
bioRxiv, 2023.04. 15.537038, 2023
The system can't perform the operation now. Try again later.
Articles 1–20