| 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 | 342 | 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 | 139 | 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 | 122 | 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 | 100 | 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 | 47 | 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 | 37 | 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 | 36 | 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 | 34 | 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 | 31 | 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 | 27 | 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 | 20 | 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 | 19 | 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 | 18 | 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 | 13 | 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 | 12 | 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 | 11 | 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 | 7 | 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 | 6 | 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 | 4 | 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 | 4 | 2023 |
