Publications

First Author Publications:

BY Chen*, WP Bone*, K Lorenz, M Levin, MD Ritchie, BF Voight. ColocQuiaL: A QTL-GWAS colocalization pipeline. Bioinformatics. 2022 Jul 27. doi:10.1093/bioinformatics/btac512

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TR Bellomo*, WP Bone*, BY Chen, KAB Gawronski, D Zhang, J Park, M Levin, N Tsao, D Klarin, J Lynch, TL Assimes, JM Gaziano, PW Wilson, K Cho, M Vujkovic, the VA Million Veteran Program, CJ O’Donnell, K Chang, PS Tsao, DJ Rader, MD Ritchie, SM Damrauer, BF Voight. Multi-trait GWAS of atherosclerosis detects novel pleiotropic loci. Frontiers in Genetics. 2022 Feb 02. doi:10.3389/fgene.2021.787545

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WP Bone, KM Siewert, A Jha, D Klarin, SM Damrauer, the VA Million Veteran Project, K Chang, PS Tsao, TL Assimes, MD Ritchie, BF Voight. Multi-trait association studies discover pleiotropic loci between Alzheimer’s disease and cardiometabolic traits. Alzheimer's Research & Therapy. 2021 Feb 04. doi:10.1186/s13195-021-00773-z

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WP Bone, NL Washington, OJ Buske, DR. Adams, J Davis, D Draper, ED Flynn, M Girdea, R Godfrey, GA Golas, C Groden, J Jacobsen, S Köhler, EMJ Lee, AE Links, TC Markello, CJ Mungall, M Nehrebecky, PN Robinson, M Sincan, AG Soldatos, CJ Tifft, C Toro, H Trang, E Valkanas, N Vasilevsky, C Wahl, L Wolfe, CF Boerkoel, M Brudno, MA Haendel, WA Gahl, D Smedley. Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency. Genetics in Medicine. 2015 Nov 12. doi:10.1038/gim.2015.137

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Coauthor Publications:

  1. G Temprano-Sagrera, CM Sitlani, WP Bone, M Martin-Bornez, BF Voight, AC Morrison, SM Damrauer, PS de Vries, NL Smith, M Sabater-Llea, Multi-phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations. Journal of Thrombosis and Haemostasis. 2022, Mar 14. doi: 10.1111/jth.15698
  2. MG Levin, NL Tsao, TR Bellomo, WP Bone, KG Aragam, Y Yang, MP Morley, M Burke, RL Judy, Z Arany, TP Cappola, SM Day, PT Ellinor, KB Margulies, BF Voight, SM Damrauer. Multi-ancestry Multivariate Genome-Wide Analysis Highlights the Role of Common Genetic Variation in Cardiac Structure, Function, and Heart Failure-related Traits. Accepted to Nature Communications. 2021 Aug 05. doi: 10.1101/2021.08.03.21261508
  3. X Zhang, AM Lucas, Y Veturi, TG Driavas, WP Bone, A Verma, WK Chung, David Crosslin, JC Denny, S Hebbring, GP Jarvik, I Kullo, EB Larson, LJ Rasmussen-Torvik, DJ Schaid, JW Smoller, IB Stanaway, W Wei, C Weng, MD Ritchie. Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders. Nat Commun. 2022 Jun 14. doi: 10.1038/s41467-022-30678-w
  4. X Wu, CM Niculite, MB Preda, A Rossi, T Tebaldi, E Buto, MK Whit, OM Tudoran, DN Petrusc, AS Jannasch, WP Bone, X Zong, F Fang, A Burlac, MT Paulsen, BA Hancock, GE Sandusky, S Mitra, ML Fishel, A Buechlein, C Ivan, S Oikonomopoulos, M Gorospe, A Mosley, M Radovich, UP Davé, J Ragoussis, KP Nephew, B Mari, A McIntyre, H Konig, M Ljungman, DL Cousminer, P Macchi P, M Ivan. Regulation of cellular sterol homeostasis by the oxygen responsive noncoding RNA lincNORS. Nat Commun. 2020 Sep 21;11(1):4755. doi: 10.1038/s41467-020-18411-x
  5. KK Benson, W Hu, AH Weller, AH Bennett, ER Chen, SA Khetarpal, S Yoshino, WP Bone, L Wang, JD Rabinowitz, BF Voight, RE Soccio. Natural human genetic variation determines basal and inducible expression of PM20D1, an obesity-associated gene. PNAS. 2019, Nov 12. doi:10.1073/pnas.1913199116
  6. K Gawronski, W Bone, Y Park, E Pashos, X Wang, W Yang, D Rader, K Musunuru,B Voight, C Brown. Evaluating the contribution of cell-type specific alternative splicing to variation in lipid levels. bioRxiv [preprint]. 2019, Jun 6. doi:10.1101/659326
  7. X Zhang, Y Veturi, S Verma, W Bone, A Verma, A Lucas, S Hebbrin, JC Denn, IB Stanaway, GP Jarvik, D Crosslin, EB Larson, L Rasmussen-Torvik, SA Pendergrass, Smoller JW, H Hakonarson, P Sleiman, C Weng, D Fase, WQ We, I Kullo, D Schaid, WK Chung, MD Ritchie. Detecting potential pleiotropy across cardiovascular and neurological diseases using univariate, bivariate, and multivariate methods on 43,870 individuals from the eMERGE network. Pac Symp Biocomput. 2019;24:272-283
  8. T Gall, E Valkanas, C Bello, T Markello, CJ Adams, WP Bone, A Brandt, J Brazill, L Carmichael, M Davids, J Davis, Z Diaz-Perez, D Draper, J Elson, ED Flynn, R Godfrey, C Groden, C Hsieh, R Fischer, G Golas, J Guzman, Y Huang, M Kane, EMJ Lee, C Li, AE Links, V Maduro, MC Malicdan, F Malik, M Nehrebecky, J Park, P Pemberton, K Schaffer, D Simeonov, M Sincan, D Smedley, Z Valivullah, C Wahl, NL Washington, L Wolfe, K Xu, Y Zhu, WA Gahl, CJ Tifft, C Toro, DR Adams, M He, PN Robinson, MA Haendel, RG Zhai, CF Boerkoel. Defining disease, diagnosis, and translational medicine within a homeostatic perturbation paradigm: The NIH Undiagnosed Diseases Program experience. Frontiers in Medicine. 2017, May 26. doi:10.3389/fmed.2017.00062
  9. M Kambouris, J Thevenon, A Soldatos, A Cox, J Stephen, T Ben-Omran, Y Al-Sarraj, W Bone, JC Mulikin, NISC Comparative Sequencing Program, A Masurel-Paulet, J St Onge, Y Dufford, C Chantegret, C Thauvin-Robinet, J Al-Alami, L Faivre, JB Riviere, WA Gahl, AG Bassuk, MCV Malicdan, H El-Shanti. Biallelic SCN10A Mutations in Neuromuscular Disease and Epileptic Encephalopathy. Annals of Clinical and Translational Neurology. 2016, Dec 20. doi:10.1002/acn3.372
  10. C Du, BN Pusey, CJ Adams, C Lau, WP Bone, WA Gahl, TC Markello, DR Adams. Exploration to improve the completeness of exome sequencing. BMC Medical Genomics. 2016, Aug 27. doi: 10.1186/s12920-016-0216-3
  11. AE Links, D Draper, EMJ Lee, J Guzman, Z Valivullah, V Lebedev, M Didenko, G Tomlin, M Brudno, M Girdea, S Dumitriu, AM Arnold, B Coessens, S Verhoeven, W Bone, DR Adams, CF Boerkoel, WA Gahl, M Sincan. Distributed cognition and process management enabling individualized translational research: The NIH Undiagnosed Diseases Program experience. Frontiers in Medicine. 2016, Aug 12. doi:10.3389/fmed.2016.00039
  12. M Davids, MS Kane, M He, LA Wolfe, X Li, MA Raihan, KR Chao, WP Bone, CF Boerkoel, WA Gahl, C Toro. Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration. British Medical Journal. 2015, Dec 14. pii: jmedgenet-2015-103338. doi:10.1136/jmedgenet-2015-103338
  13. PN Robinson, D Smedley, S Köhler, M Jäger, M Schubach, M Holtgrewe, E Siragusa, J Jacobsen, O Buske, WP Bone, Melissa Haendel, and Tomasz Zemojtel. Next-Generation Diagnostics and Disease Gene Discovery with the Exomiser. Nature Protocols. 2015, Dec10 (12):2004-15. doi:10.1038/nprot.2015.124
  14. OJ Buske, M Girdea, S Dumitriu, B Gallinger, T Hartley, H Trang, A Misyura, T Friedman, C Beaulieu, WP Bone, AE Links, NL Washington, MA Haendel, PN Robinson, CF Boerkoel, D Adams, WA Gahl, M Brudno. PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases. Human Mutation. 2015 Aug 7. doi:10.1002/humu.22851
  15. A Trehan, JM Brady, V Maduro, WP Bone, Y Huang, GA Golas, M Kane, PR Lee, A Thurm, AL. Gropman, SM Paul, G Vezina, TC Markello, WA Gahl, CJ. Tifft, CF Boerkoel. MED23-associated Intellectual Disability in a Non-consanguineous Family. American Journal of Medical Genetics Part A. 2015, Apr. 2. doi: 10.1002/ajmg.a.37047
  16. JS Albert, N Bhattacharyya, LA Wolfe, WP Bone, V Maduro, J Accardi, DR Adams, CE Schwartz, J Norris, T Wood, RI Gafni, MT Collins, LL Tosi, TC Markello, WA Gahl, CF Boerkoel. Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder- Robinson Syndrome. Orphanet Journal of Rare Diseases. 2015, Mar 7. doi:10.1186/s13023-015-0235-8
  17. TC Markello, D Chen, JY Kwan, I Horkayne-Szakaly, A Morrison, O Simakova, I Maric, J Lozier, AR Cullinane, T Kilo, L Meister, K Pakzad, W Bone, S Chainani, E Lee, A Links, C Boerkoel, R Fischer, C Toro, JG White, WA Gahl, M Gunay-Aygun. York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1. Molecular Genetics and Metabolism. 2014, Dec 24. pii:S1096-7192(14)00700-8. doi:10.1016/j.ymgme.2014.12.307