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58,157 Total Citations
Index-h of 76

Last Retrieved:
25 May 2020


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Preprints: BioRxiv or MedRxiv

Johnson KE, Voight BF. Identifying non-identical-by-descent rare variants in population-scale whole genome sequencing data.
[BioRxiv] [Supplemental Data: UK10K and Sim non-IBD Posterior Probs] [GitHub:ibdibsR]

Cousminer DL, Wagley Y, Pippin J, Elhakeem A, Way G, McCormack S, Chesi A, Mitchell J, Kindler J, Baird D, Hartley A, Howe LD, Kalkwarf H, Lappe J, Lu S, Leonard M, Johnson M, Hakonarson H, Gilsanz V, Shepherd J, Oberfield S, Greene C, Kelly A, Lawlor D, Voight BF, Wells A, Zemel B, Hankenson K, Grant SFA. Genome-wide association study implicates novel loci and reveals candidate effector genes for longitudinal pediatric bone accrual through variant-to-gene mapping.

Levin MG, Judy R, Gill D, Vujkovic M, Regeneron Genetics Center, Hyman MC, Nazarian S, Rader DJ, Voight BF, Damrauer SM. Genetics of Height and Risk of Atrial Fibrillation: A Mendelian Randomization Study.

Levin MG, Klarin D, Assimes TL, Freiberg MS, Ingelsson E, Lynch J, Natarajan P, O'Donnell C, Rader DJ, Tsao PS, Chang KM, Voight BF, Damrauer SM, VA Million Veteran Program. Genetics of Smoking and Risk of Atherosclerotic Cardiovascular Diseases: A Mendelian Randomization Study.

Thom CS, Ding Z, Levin MG, Damrauer SM, Voight BF. Genetically determined body mass index mediates the effect of smoking on type 2 diabetes risk, but not coronary artery disease risk.

Thom CS, Voight BF. Genetic colocalization atlas points to common regulatory sites and genes for hematopoietic traits and hematopoietic contributions to disease phenotypes.

Johnson KE, Siewert KM, Klarin D, Damrauer SM, the VA Millon Veteran Program, Chang KM, Tsao PS, Assimes TL, Maxwell KN, Voight BF. Assessing a causal relationship between circulating lipids and breast cancer risk: Mendelian randomization study.

Gawronski KAB, Bone W, Park Y, Pashos W, Wang X, Yang W, Rader DJ, Musunuru K, Voight BF, Brown C. Evaluating the contribution of cell-type specific alternative splicing to variation in lipid levels.


Vujkovic M, Keaton JM, Lynch JA, Miller DR, Zhou J, Tcheandjieu C, Huffman JE, Assimes TL, Judy RL, Lee KM, Klarin D, Pyarajan S, Danesh J, Melander O, Rasheed A, Qamar N, Sheikh SS, Hameed S, Qureshi IH, Afzal MN, Jahanzaib U, Jalal A, Abbas S, Sheng X, Gao L, Kaestner KH, Susztak K, Sun YV, Duvall SL, ChoK, Lee JS, Gaziano JM, Philips LS, Meigs JB, Reaven PD, Wilson PW, Edwards TL, Rader DJ, Damrauer SM, O'Donnell CJ, Tsao PS, HPAP Consortium, Regeneron Genetics Center, Million Veteran Program, Chang KM, Voight BF, Saleheen D. Discovery of 318 novel loci for type-2 diabetes and related micro- and macrovascular outcomes among 1.4 million participants in a multi-ethnic meta-analysis.
Nat. Genet., in press 2020.

Thom CS, Jobaliya CD, Lorenz K, Maguire JA, Gagne A, Gadue P, French DL, Voight BF. Tropomyosin 1 genetically constrains in vitro hematopoiesis.
BMC Biol. 2020 May 14;18(1):52.
[BioRxiv] [Pubmed]

Kember RL, Levin MG, Cousminer DL, Tsao N, Judy R, Schur GM, Lubitz SA, Ellinor PT, McCormack SE, Grant SFA, Rader DJ, Voight BF, Damrauer SM. Genetically Determined Birthweight Associates with Atrial Fibrillation: A Mendelian Randomization Study.
Circ Genom Precis Med. 2020 Apr 27; doi: 10.1161/CIRCGEN.119.002553. [Epub ahead of print]

Mishra R, Akerlund M, Cousminer DL, Ahlqvist E, Bradfield JP, Chesi A, Hodge KM, Guy VC, Brillon DJ, Pratley RE, Rickels MR, Vella A, Ovalle F, Harris RI, Melander O, Varvel S, Hakonarson H, Froguel P, Lonsdale JT, Mauricio D, Schloot NC, Khunti K, Greenbaum CJ, Yderstraede KB, Tuomi T, Voight BF, Schwartz S, Boehm BO, Groop L, Leslie RD, Grant SFA. Genetic Discrimination Between LADA and Childhood-Onset Type 1 Diabetes Within the MHC.
Diabetes Care. 2020 Feb;43(2):418-425.

Siewert KM, Voight BF. BetaScan2: Standardized Statistics to Detect Balancing Selection Utilizing Substitution Data.
Genome Biol Evol. 2020 Feb 1;12(2):3873-3877.
[Pubmed] [BioRxiv] [Github:BetaScan] [BetaScan2: README]
[BetaScan2 scores: CEU] [BetaScan2 scores: CHB] [BetaScan2 scores: YRI]


Benson KK, Hu W, Weller AH, Bennett AH, Chen ER, Khetarpal SA, Yoshino S, Bone WP, Wang L, Rabinowitz JD, Voight BF, Soccio RE. Natural human genetic variation determines basal and inducible expression of PM20D1, an obesity-associated gene.
Proc Natl Acad Sci U S A. 2019 Nov 12;116(46):23232-23242.

Chanfreau-Coffinier C, Hull LE, Lynch JA, DuVall SL, Damrauer SM, Cunningham FE, Voight BF, Matheny ME, Oslin DW, Icardi MS, Tuteja S. Projected Prevalence of Actionable Pharmacogenetic Variants and Level A Drugs Prescribed Among US Veterans Health Administration Pharmacy Users.
JAMA Netw Open. 2019 JAMA Netw Open. 2019 Jun 5;2(6):e195345.

Aikens RC, Johnson KE, Voight BF. Signals of variation in human mutation rate at multiple levels of sequence context.
Mol Biol Evol. 2019 May 1; 36(5):955-965
[Pubmed] [BioRxiv] [Github: Analysis Code]

Cousminer DL, McCormack SE, Mitchell JA, Chesi A, Kindler JM, Kelly A, Voight BF, Kalkwarf HJ, Lappe JM, Shepherd JA, Oberfield SE, Gilsanz V, Zemel BS, Grant SFA. Postmenopausal osteoporotic fracture-associated COLIA1 variant impacts bone accretion in girls.
Bone. 2019 Apr;121:221-226.
[Pubmed] [PDF]

Voight BF. Keen on the tenure track job, are you? Know these things, you should.
Genome Biol. 2019 Jan 7;20(1):6.
[Pubmed] [PDF]


Siewert KM and Voight BF. Bivariate Genome-Wide Association Scan Identifies 6 Novel Loci Associated With Lipid Levels and Coronary Artery Disease.
Circ Genom Precis Med. 2018 Dec;11(12):e002239.
[Pubmed] [BioRxiv] [PDF] [Supplemental Data: GWAS bivariate summary stats]

Khetarpal SA, Babb PL, Zhao W, Hancock-Cerutti WF, Brown CD, Rader DJ, and Voight BF. Multiplexed targeted resequencing identifies coding and regulatory variation underlying phenotypic extremes of HDL-cholesterol in humans.
Circ Genom Precis Med. 2018 Jul;11(7):e002070.
[Pubmed] [BioRxiv] [PDF]

Johnson KE and Voight BF. Patterns of shared signatures of recent positive selection across human populations.
Nat Ecol Evol. 2018 Apr;2(4):713-720
[Pubmed] [BioRxiv] [PDF] [Supplemental Data: iHS scores from 1KG]

Cousminer DL, Mitchell JA, Chesi A, Roy SM, Kalkwarf HJ, Lappe JM, Gilsanz V, Oberfield SE, Shepherd JA, Kelly A, McCormack SE, Voight BF, Zemel BS, Grant SFA. Genetically determined later puberty impacts lowered bone mineral density in childhood and adulthood.
J Bone Miner Res. 2018 Mar;33(3):430-436.


Flannick J, Fuchsberger C, Mahajan A, ..., Voight BF, ... and McCarthy MI. Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.
Sci Data. 2017 Dec;19(4):170179. [Pubmed] [PDF]

Zhao W, Rasheed A, Tikkanen E, ..., Voight BF* and Saleheen D*. Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease.
Nat. Genet. 2017 Oct;49(10):1450-1457. [Pubmed] [PDF]

Siewert KM and Voight BF. Detecting Long-term Balancing Selection using Allele Frequency Correlation.
Mol. Biol. Evol. 2017 Nov 1;34(11):2996-3005 [Pubmed] [Open Access] [PDF] [BioRxiv] [Supplemental Data: Top β scores from 1KG] (Updated 05.01.2018: clarifying comments to README file)
[Supplemental Data: β scores from 1KG, All SNPs: X and Autosomes]

Babb PL, Lahens NF, Correa-Garhwal SM, Nicholson DN, Kim EJ, Hogenesch JB, Kuntner M, Higgins L, Hayashi CY, Agnarsson I, Voight BF. The Nephila clavipes genome highlights the diversity of spider silk genes and their complex expression.
Nat. Genet. June 5;49(6):895-903.
[Pubmed] [PDF] [Supplemetary Data: GenBank Annotations]

Mishra R, Chesi A, Cousminer DL, Hawa MI, Bradfield JP, Hodge KM, Guy VC, Hakonarson H; Bone Mineral Density in Childhood Study., Mauricio D, Schloot NC, Yderstraede KB, Voight BF, Schwartz S, Boehm BO, Leslie RD, Grant SFA. Relative contribution of type 1 and type 2 diabetes loci to the genetic etiology of adult-onset, non-insulin-requiring autoimmune diabetes.
BMC Med. Apr 25;15(1):88. [Pubmed] [PDF]

Brynedal B, Choi J, Raj T, Bjornson R, Stranger BE, Neale BM, Voight BF, Cotsapas C. Large-Scale trans-eQTLs Affect Hundreds of Transcripts and Mediate Patterns of Transcriptional Co-regulation.
Am J Hum Genet. 100(4):581-591. [Pubmed]

Aggarwala V, Ganguly A, and Voight BF. De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm.
BMC Genomics 18(1):155. [Pubmed] [PDF]

Yin P, Anttila V, Siewert KM, Palotie A, Davey Smith G, and Voight BF. Serum calcium and risk of migraine: a Mendelian randomization study.
Hum Mol Genet. Feb 15;26(4):820-828. [Pubmed] [PDF]

Aikens RC, Zhao W, Saleheen D, Reilly MP, Epstein SE, Tikkanen E, Salomaa V, Voight BF. Systolic Blood Pressure and Risk of Type 2 Diabetes: a Mendelian Randomization Study.
Diabetes 66(2):543-550. [Pubmed] [PDF]


Cousminer DL, Arkader A, Voight BF, Pacifici M, Grant SF. Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses.
Bone 92:196-200. [Pubmed]

Fuchsberger C, Flannick J, Teslovich TM, Mahajan A, Agarwala V, ..., Voight BF, et al. The genetic architecture of type 2 diabetes.
Nature 536(7614):41-7. [Pubmed]

Aggarwala V, Voight BF. An expanded sequence context model broadly explains variability in polymorphism levels across the human genome.
Nat. Genet. 48(4):349-55. [Pubmed] [PDF]

Keenan T, Zhao W, Rasheed A, Ho WK, Malik R, ..., Voight BF, Saleheen D. Causal assessment of serum urate levels in cardiometabolic diseases through a mendelian randomization study.
JACC Feb 2;67(4):407-16. [Pubmed] [PDF]


Gaulton KJ, Ferreira T, Lee Y, Raimondo A, Magi R, ..., Voight BF, ..., DIAGRAM Consortium. Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci.
Nat. Genet. Dec;47(12):1415-25. [Pubmed]

Jansen H, Loley C, Lieb W, Pencina MJ, Nelson CP, Kathiresan S, Peloso GM, Voight BF, Reilly MP, Assimes TL, Boerwinkle E, Hengstenberg C, Laaksonen R, McPherson R, Roberts R, Thorsteinsdottir U, Peters A, Gieger C, Rawal R, Thompson JR, König IR; CARDIoGRAM consortium, Vasan RS, Erdmann J, Samani NJ, Schunkert H. Genetic variants primarily associated with type 2 diabetes are related to coronary artery disease risk.
Atherosclerosis Aug;241(2):419-426. [Pubmed]

Soccio RE, Chen ER, Rajapurkar SR, Safabakhsh P, Marinis JM, Dispirito JR, Emmett MJ, Briggs ER, Fang B, Everett LJ, Lim HW, Won KJ, Steger DJ, Wu Y, Civelek M, Voight BF, Lazar MA. Genetic Variation Determines PPARγ Function and Anti-diabetic Drug Response in Vivo.
Cell Jul 2;162(1):33-44. [Pubmed]

Yin, P and Voight, BF. MeRP: a high-throughput pipeline for Mendelian Randomization analysis.
Bioinformatics Mar 15;31(6):957-9. [Pubmed] [PDF]


Voight, BF. MR_predictor: a simulation engine for Mendelian Randomization studies.
Bioinformatics Dec 1;30(23):3432-4 [Pubmed] [PDF]

MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly MJ, Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, Pennacchio LA, Stamatoyannopoulos JA, Sunyaev SR, Valle D, Voight BF, Winckler W, Gunter C. Guidelines for investigating causality of sequence variants in human disease.
Nature, 2014 Apr 24;508:469-476. [Pubmed] [PDF]

Prokopenko I, Poon W, Magi R, Prasad B R, Salehi SA, Almgren P, Osmark P, Bouatia-Naji N, Wierup N, Fall T, Stanca kova A, Barker A, Lagou V, Osmond C, Xie W, Lahti J, Jackson AU, Cheng YC, Liu J, O'Connell JR, Blomstedt PA, Fadista J, Alkayyali S, Dayeh T, Ahlqvist E, Taneera J, Lecoeur C, Kumar A, Hansson O, Hansson K, Voight BF, Kang HM, Levy-Marchal C, Vatin V, Palotie A, Syvänen AC, Mari A, Weedon MN, Loos RJ, Ong KK, Nilsson P, Isomaa B, Tuomi T, Wareham NJ, Stumvoll M, Widen E, Lakka TA, Langenberg C, Tönjes A, Rauramaa R, Kuusisto J, Frayling TM, Froguel P, Walker M, Eriksson JG, Ling C, Kovacs P, Ingelsson E, McCarthy MI, Shuldiner AR, Silver KD, Laakso M, Groop L, Lyssenko V. A central role for GRB10 in regulation of islet function in man.
PLoS Genetics 2014 Apr 3;10(4):e1004235. [Pubmed] [PDF]

Flannick J, Thorleifsson G, Beer NL, Jacobs SB, Grarup N, Burtt NP, Mahajan A, Fuchsberger C, Atzmon G, Benediktsson R, Blangero J, Bowden DW, Brandslund I, Brosnan J, Burslem F, Chambers J, Cho YS, Christensen C, Douglas DA, Duggirala R, Dymek Z, Farjoun Y, Fennell T, Fontanillas P, Forse T, Gabriel S, Glaser B, Gudbjartsson DF, Hanis C, Hansen T, Hreidarsson AB, Hveem K, Ingelsson E, Isomaa B, Johansson S, Jogensen T, Jogensen ME, Kathiresan S, Kong A, Kooner J, Kravic J, Laakso M, Lee JY, Lind L, Lindgren CM, Linneberg A, Masson G, Meitinger T, Mohlke KL, Molven A, Morris AP, Potluri S, Rauramaa R, Ribel-Madsen R, Richard AM, Rolph T, Salomaa V, Segre AV, Skarstrand H, Steinthorsdottir V, Stringham HM, Sulem P, Tai ES, Teo YY, Teslovich T, Thorsteinsdottir U, Trimmer JK, Tuomi T, Tuomilehto J, Vaziri-Sani F, Voight BF, Wilson JG, Boehnke M, McCarthy MI, Njostad PR, Pedersen O, Groop L, Cox DR, Stefansson K, Altshuler D. Loss-of-function mutations in SLC30A8 protect against type 2 diabetes.
Nature Genetics 2014 Apr 4;46(4):357-363. [Pubmed] [PDF]


Georgi B, Voight BF, Bucan M. From mouse to human: evolutionary genomics analysis of human orthologs of essential genes.
PLoS Genetics 2013 May;9(5):e1003484. [Pubmed] [PDF]


Voight BF, Cotsapas C. Human Genetics offers an emerging picture of common pathways and mechanisms in autoimmunity.
Current Opinion Immunology 2012 Oct;24(5):552-7. [Pubmed] [PDF]

Morris AP, Voight BF, Teslovich TM, Ferreira T, Segrè A, Steinthorsdottir V, Strawbridge RJ, Khan H, Grallert H, Mahajan A, et al. Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.
Nature Genetics, Aug 12;44(9):981-990. [Pubmed] [PDF]

Voight BF, Kang HM, Ding J, Palmer CD, Sidore C, Chines PS, Burtt NP, Fuchsberger C, Li Y, Erdmann J, et al. The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits.
PLoS Genetics 2012 Aug;8(8):e1002793. [Pubmed] [PDF]

Voight BF, Peloso GM, Orho-Melander M, Frikke-Schmidt R, Barbalic M, Jensen MK, Hindy G, Hol H, Ding EL, Johnson T, et al. Plasma HDL cholesterol and risk of Myocardial Infarction: a mendelian randomisation study.
Lancet, 2012 Aug 11;380(9841):572-80. [Pubmed] [PDF]

Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim E, Rossin E, Kirby A, Flannick J, Fromer M, Shakir K, Fennell T, Garimella K, Banks E, Poplin R, Gabriel S, DePristo M, Wimbish JR, Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD, Cook EH Jr, Devlin B, Gibbs RA, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ. Patterns and rates of exonic de novo mutations in autism spectrum disorders.
Nature, 2012 Apr 4;485(7397):242-5. [Pubmed] [PDF]

Stahl EA, Wegmann D, Trynka G, Gutierrez-Achury J, Do R, Voight BF, Kraft P, Chen R, Kallberg HJ, Kurreeman FA, DIAGRAM Consortium, MIGen Consortium, Kathiresan S, Wijmenga C, Gregersen PK, Alfredsson L, Siminovitch KA, Worthington J, de Bakker PI, Raychaudhuri S, Plenge RM. Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis.
Nature Genetics 2012 Mar 25;44(5):483-9. [Pubmed] [PDF]

Bumgarner SL, Neuert G, Voight BF, Symbor-Nagrabska A, Grisafi P, van Oudenaarden A, Fink GR. Molecular Cell, Feb 24;45(4):470-82. Epub 2012 Jan 19. [Pubmed] [PDF]


Cotsapas C, Voight BF, Lage K, Rossin ER, and Neale BM et al. Pervasive sharing of genetic effects in autoimmune disease. PLoS Genetics, 7(8):e1002254, 2011. [Pubmed] [PDF]

Neale BM, Rivas MA, Voight BF, Altshuler D, Devlin B, Orho-Melander M, Kathiresan S, Purcell SM, Roeder K, Daly MJ. Testing for an unusual distribution of rare variants. PLoS Genetics, 2011 Mar;7(3):e1001322. Epub 2011 Mar 3. [Pubmed] [PDF]

Guey LT, Kravic J, Melander O, Burtt NP, Laramie JM, Lyssenko V, Jonsson A, Lindholm E, Tuomi T, Isomaa B, Nilsson P, Almgren P, Kathiresan S, Groop L, Seymour AB, Altshuler D, and Voight BF. Power in the phenotypic extremes: a simulation study of power in discovery and replication of rare variants. Genet Epidemiology, 2011 May 35(4):236-246. [Pubmed] [PDF]


Pulit SL, Voight BF, de Bakker PI. Multiethnic genetic association studies improve power for locus discovery. PLoS One 2010 Sep 8;5(9):e12600. [Pubmed] [PDF]

Voight BF, Scott LJ, Steinthorsdottir V, Morris AP, and Dina C on behalf of the DIAGRAM consortium. Twelve type 2 diabetes susceptibility loci identied through large-scale association analysis. Nature Genetics, 42(7):579-589, Jul 2010. [Pubmed] [PDF] [Supp Info]


Myocardial Infarction Genetics (MIGen) Consortium. Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nature Genetics, 41(3):334-341, Mar 2009. [Pubmed] [PDF]


de Bakker PI, Ferreira MA, Jia X, Neale BM, Raychaudhuri S, Voight BF. Practical aspects of imputation-driven meta-analysis of genome-wide association studies. Human Molecular Genetics 2008 Oct 15;17(R2):R122-8. [Pubmed] [PDF]

Zeggini E, Scott LJ, Saxena R, Voight BF, for the DIAGRAM Consortium. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nature Genetics 2008 May;40(5):638-45. Epub 2008 Mar 30. [Pubmed] [PDF]


Diabetes Genetics Initiative. Genome-wide association analysis identies loci for type 2 diabetes and triglyceride levels. Science, 316(5829):1331-1336, Jun 2007. [Pubmed] [PDF]

Tishkoff SA, Reed FA, Ranciaro A, Voight BF, Babbitt CC, Silverman JS, Powell K, Mortensen HM, Hirbo JB, Osman M, Ibrahim M, Omar SA, Lema G, Nyambo TB, Ghori J, Bumpstead S, Pritchard JK, Wray GA, Deloukas P. Nature Genetics 2007 Jan;39(1):31-40. Epub 2006 Dec 10. [Pubmed] [PDF]


Voight BF, Kudaravalli S, Wen X, and Pritchard JK. A map of recent positive selection in the human genome. PLoS Biology, 4(3), Mar 2006. [Pubmed] [PDF]


Voight BF, Adams AM, Frisse LA, Qian Y, Hudson RR, Di Rienzo A. Interrogating multiple aspects of variation in a full resequencing data set to infer human population size changes. PNAS, 102(51):18508-13. Dec 2005. [Pubmed] [PDF]

Voight and Pritchard JK. Confounding from cryptic relatedness in case-control association studies. PLoS Genetics, 1(3):e32, Sep 2005. [Pubmed] [PDF]