©2019

SELECTED PUBLICATIONS

Fine RS, Pers TH, Amariuta T, Raychaudhuri S, Hirschhorn JN. Benchmarker: an unbiased, association-data-driven strategy to evaluate gene prioritization algorithms. Am J Hum Genet 2019; 104:1025-1039.

Hsu YH, Churchhouse C, Pers TH, Mercader JM, Metspalu A, Fischer K, Fortney K, Morgen EK, Gonzalez C, Gonzalez ME, Esko T, Hirschhorn JN. PAIRUP-MS: Pathway analysis and imputation to relate unknowns in profiles from mass spectrometry-based metabolite data. PLoS Comput Biol. 2019; 15:e1006734.  

Astley CM+, Todd JN+, Salem, RM, Vedantam S, Ebbeling CB, Huang PL, Ludwig DS, Hirschhorn JN*, Florez JC*. Genetic evidence that carbohydrate-stimulated insulin secretion leads to obesity; Clin. Chem. 2018; 64 192–200.

Turcot V+, Lu Y+, Highland HM+, Schurmann C+, Justice AE+, Fine RS+, Bradfield JP, Esko T, Giri A, Graff M...(many additional authors from the GIANT consortium), Hirschhorn JN*, Loos RJ*. Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nat. Genet. 2018; 50:26–41.

Marouli E+, Graff M+, Medina-Gomez C+, Lo KS+, Wood AR+, Kjaer TR+, Fine RS+, Lu Y+, …(many additional authors from the GIANT consortium), Oxvig C*, Kutalik Z*, Rivadeneira F*, Loos RJ*, Frayling TM*, Hirschhorn JN*, Deloukas P*, Lettre G*. Rare and low-frequency coding variants alter human adult height. Nature 2017; 542:186-190. 

Guo, MH, Dauber A, Lippincott MF, Chan Y, Salem RM, Hirschhorn JN. Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders. Am. J. Hum. Genet. 2016; 99:527–539.

Chan Y, Salem RM, Hsu YHH, McMahon G, Pers TH, Vedantam S, Esko T, Guo MH, Lim ET, GIANT consortium, Franke L, Davey Smith G, Strachan DP, Hirschhorn J.N. Genome-wide analysis of body proportion classifies height-associated variants by mechanism of action and implicates genes important for skeletal development. Am. J. Hum. Genet. 2015; 96:695–708.

Pers TH, Karjalainen JM, Chan Y, Westra, H-J, Wood AR, Yang J, Lui JC, Vedantam S, Gustafsson S, Esko T, Frayling T, Speliotes EK, GIANT consortium, Boehnke M, Raychaudhuri S, Fehrmann RSN, Hirschhorn JN*, Franke L*. Biological interpretation of genome-wide association studies using predicted gene function. Nature Comm. 2015; 6:5890. PMC4420238 

Locke AE+, Kahali B+, Berndt SI+, Justice AE+, Pers TH+, …  (many additional authors from the GIANT consortium), North KE*, Ingelsson E*, Hirschhorn JN*, Loos RJF*, Speliotes EK*. Genetic studies of body mass index yield new insights for obesity biology. Nature 2015; 518:197–206. PMC4382211. 

Guo MH, Shen Y, Walvoord EC, Miller TC, Moon JE, Hirschhorn, JN, Dauber A. Whole exome sequencing to identify genetic causes of short stature. Horm. Res. Paediatr 2014; 82: 44–52.

Abreu AP*, Dauber A*, Macedo DB, Noel SD, Brito VN, Gill JC, Cukier P, Thompson IR, Navarro VM, Gagliardi PC, Rodrigues T, Kochi C, Longui CA, Beckers D, de Zegher F, Montenegro LR, Mendonca BB, Carroll RS, Hirschhorn JN, Latronico AC+, Kaiser UB+. Central precocious puberty caused by mutations in the imprinted gene MKRN3. N Engl J Med. 2013; 368:2467-75. PMC3808195

Wang SR, Carmichael H, Andrew SF, Miller TC, Moon JE, Derr MA, Hwa V, Hirschhorn JN, Dauber A. Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature. J Clin Endocrinol Metab. 2013; 98:E1428-37. PMC3733853

Turchin MC, Chiang CWK, Palmer CD, Sankararaman S, Reich D, GIANT Consortium, Hirschhorn JN. Evidence of widespread selection on standing variation in Europe at height-associated SNPs. Nature Genet. 2012; 44:1015-9. PMC3480734 

Chan Y+, Holmen L+, Dauber A+, Vatten L, Havulinna AS, Skorpen F, Kvaløy K, Silander K, Nguyen TT, Willer C, Boehnke M, Perola M, Palotie A, Salomaa V, Hveem K, Frayling TM* Hirschhorn JN*, Weedon MN*. Common variants show predicted polygenic effects on height in the tails of the distribution, except in extremely short individuals. PLoS Genet. 2011; 7:e1002439. PMC3248463

Lango Allen H+, Estrada K+, Lettre G+, Berndt S+, Weedon MN+, Rivadeneira F+, … (many additional authors from the GIANT consortium),  Abecasis GR*, Stefansson K*, Frayling TM*, Hirschhorn JN*. Hundreds of variants influence height and cluster in genomic loci and biological pathways. Nature 2010; 467:832-8. PMC2955183 

Hirschhorn JN. Genomewide association studies – illuminating biologic pathways. New Engl. J. Med. 2009;360:1699-701.

Campbell CD, Ogburn EL, Lunetta KL, Lyon HN, Freedman ML, Groop LC, Altshuler D, Ardlie KG, Hirschhorn JN. Demonstrating stratification in a European-American population. Nature Genet. 2005; 37:868-72. 

Bersaglieri T, Sabeti PC, Patterson N, Vanderploeg T, Schaffner SF, Drake JA, Rhodes M, Reich DE, Hirschhorn JN. Genetic signatures of strong recent positive selection at the lactase gene. Am. J. Hum. Genet. 2004; 74:1111-20. 

Lohmueller KE, Pearce CL, Pike M, Lander ES, Hirschhorn JN. Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nature Genet. 2003; 33:177-82. 

For a complete list of publications, click here.