| Year |
Citation |
Score |
| 2024 |
Lippincott MF, Schafer EC, Hindman AA, He W, Brauner R, Delaney A, Grinspon R, Hall JE, Hirschhorn JN, McElreavey K, Palmert MR, Rey R, Seminara SB, Salem RM, Chan YM. Contributions of common genetic variants to constitutional delay of puberty and idiopathic hypogonadotropic hypogonadism. The Journal of Clinical Endocrinology and Metabolism. PMID 38477512 DOI: 10.1210/clinem/dgae166 |
0.308 |
|
| 2023 |
Guo MH, Francioli LC, Stenton SL, Goodrich JK, Watts NA, Singer-Berk M, Groopman E, Darnowsky PW, Solomonson M, Baxter S, Tiao G, Neale BM, Hirschhorn JN, Rehm HL, Daly MJ, et al. Inferring compound heterozygosity from large-scale exome sequencing data. Nature Genetics. PMID 38057443 DOI: 10.1038/s41588-023-01608-3 |
0.668 |
|
| 2023 |
Hawkes G, Yengo L, Vedantam S, Marouli E, Beaumont RN, Tyrrell J, Weedon MN, Hirschhorn J, Frayling TM, Wood AR. Identification and analysis of individuals who deviate from their genetically-predicted phenotype. Plos Genetics. 19: e1010934. PMID 37733769 DOI: 10.1371/journal.pgen.1010934 |
0.355 |
|
| 2023 |
Zhu J, Eliasen AU, Aris IM, Stinson SE, Holm JC, Hansen T, Hivert MF, Bønnelykke K, Salem RM, Hirschhorn JN, Chan YM. Pediatric Features of Genetic Predisposition to Polycystic Ovary Syndrome. The Journal of Clinical Endocrinology and Metabolism. PMID 37690116 DOI: 10.1210/clinem/dgad533 |
0.588 |
|
| 2023 |
Bartell E, Lin K, Tsuo K, Gan W, Vedantam S, Cole JB, Baronas JM, Yengo L, Marouli E, Amariuta T, Chen Z, Li L, Renthal NE, Jacobsen CM, Salem RM, ... ... Hirschhorn JN, et al. Genetics of skeletal proportions in two different populations. Biorxiv : the Preprint Server For Biology. PMID 37292977 DOI: 10.1101/2023.05.22.541772 |
0.832 |
|
| 2023 |
Baronas JM, Bartell E, Eliasen A, Doench JG, Yengo L, Vedantam S, Marouli E, Kronenberg HM, Hirschhorn JN, Renthal NE. Genome-wide CRISPR screening of chondrocyte maturation newly implicates genes in skeletal growth and height-associated GWAS loci. Cell Genomics. 3: 100299. PMID 37228756 DOI: 10.1016/j.xgen.2023.100299 |
0.808 |
|
| 2023 |
Guo MH, Francioli LC, Stenton SL, Goodrich JK, Watts NA, Singer-Berk M, Groopman E, Darnowsky PW, Solomonson M, Baxter S, Tiao G, Neale BM, Hirschhorn JN, Rehm HL, Daly MJ, et al. Inferring compound heterozygosity from large-scale exome sequencing data. Biorxiv : the Preprint Server For Biology. PMID 36993580 DOI: 10.1101/2023.03.19.533370 |
0.659 |
|
| 2023 |
Hawkes G, Yengo L, Vedantam S, Marouli E, Beaumont RN, Tyrrell J, Weedon MN, Hirschhorn J, Frayling TM, Wood AR. Identification and analysis of individuals who deviate from their genetically-predicted phenotype. Biorxiv : the Preprint Server For Biology. PMID 36798175 DOI: 10.1101/2023.02.10.528019 |
0.36 |
|
| 2022 |
Smyth LJ, Dahlström EH, Syreeni A, Kerr K, Kilner J, Doyle R, Brennan E, Nair V, Fermin D, Nelson RG, Looker HC, Wooster C, Andrews D, Anderson K, McKay GJ, ... ... Hirschhorn JN, et al. Epigenome-wide meta-analysis identifies DNA methylation biomarkers associated with diabetic kidney disease. Nature Communications. 13: 7891. PMID 36550108 DOI: 10.1038/s41467-022-34963-6 |
0.59 |
|
| 2022 |
Yengo L, Vedantam S, Marouli E, Sidorenko J, Bartell E, Sakaue S, Graff M, Eliasen AU, Jiang Y, Raghavan S, Miao J, Arias JD, Graham SE, Mukamel RE, Spracklen CN, ... ... Hirschhorn JN, et al. A saturated map of common genetic variants associated with human height. Nature. PMID 36224396 DOI: 10.1038/s41586-022-05275-y |
0.833 |
|
| 2022 |
Sena C, Iannello G, Skowronski AA, Dannheim K, Cheung L, Agrawal PB, Hirschhorn JN, Zeitler P, LeDuc CA, Stratigopoulos G, Thaker VV. Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms. Journal of Medical Genetics. PMID 35803701 DOI: 10.1136/jmedgenet-2022-108490 |
0.771 |
|
| 2022 |
Sandholm N, Cole JB, Nair V, Sheng X, Liu H, Ahlqvist E, van Zuydam N, Dahlström EH, Fermin D, Smyth LJ, Salem RM, Forsblom C, Valo E, Harjutsalo V, Brennan EP, ... ... Hirschhorn JN, et al. Genome-wide meta-analysis and omics integration identifies novel genes associated with diabetic kidney disease. Diabetologia. PMID 35763030 DOI: 10.1007/s00125-022-05735-0 |
0.671 |
|
| 2022 |
Lim ET, Chan Y, Dawes P, Guo X, Erdin S, Tai DJC, Liu S, Reichert JM, Burns MJ, Chan YK, Chiang JJ, Meyer K, Zhang X, Walsh CA, Yankner BA, ... ... Hirschhorn JN, et al. Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder. Nature Communications. 13: 3243. PMID 35688811 DOI: 10.1038/s41467-022-30968-3 |
0.551 |
|
| 2021 |
Graham SE, Clarke SL, Wu KH, Kanoni S, Zajac GJM, Ramdas S, Surakka I, Ntalla I, Vedantam S, Winkler TW, Locke AE, Marouli E, Hwang MY, Han S, Narita A, ... ... Hirschhorn JN, et al. The power of genetic diversity in genome-wide association studies of lipids. Nature. PMID 34887591 DOI: 10.1038/s41586-021-04064-3 |
0.355 |
|
| 2021 |
Kamoun C, Hawkes CP, Gunturi H, Dauber A, Hirschhorn JN, Grimberg A. Growth Hormone Stimulation Testing Patterns Contribute to Sex Differences in Pediatric Growth Hormone Treatment. Hormone Research in Paediatrics. 275-285. PMID 34662877 DOI: 10.1159/000520250 |
0.512 |
|
| 2021 |
Hawkes CP, Gunturi H, Dauber A, Hirschhorn JN, Grimberg A. Racial/Ethnic Disparities in the Investigation and Treatment of Growth Hormone Deficiency. The Journal of Pediatrics. PMID 33901521 DOI: 10.1016/j.jpeds.2021.04.034 |
0.515 |
|
| 2021 |
Graff M, Justice AE, Young KL, Marouli E, Zhang X, Fine RS, Lim E, Buchanan V, Rand K, Feitosa MF, Wojczynski MK, Yanek LR, Shao Y, Rohde R, Adeyemo AA, ... ... Hirschhorn JN, et al. Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry. American Journal of Human Genetics. PMID 33713608 DOI: 10.1016/j.ajhg.2021.02.011 |
0.829 |
|
| 2020 |
Hirschhorn JN, Dauber A, Audi L, Vedantam S, Ranke MB, Jorge AAL, Lindberg A, Camacho-Hübner C, Wajnrajch MP. Response to Letter to the Editor: "A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness". The Journal of Clinical Endocrinology and Metabolism. PMID 33174594 DOI: 10.1210/clinem/dgaa735 |
0.552 |
|
| 2020 |
Cuellar-Partida G, Tung JY, Eriksson N, Albrecht E, Aliev F, Andreassen OA, Barroso I, Beckmann JS, Boks MP, Boomsma DI, Boyd HA, Breteler MMB, Campbell H, Chasman DI, Cherkas LF, ... ... Hirschhorn JN, et al. Genome-wide association study identifies 48 common genetic variants associated with handedness. Nature Human Behaviour. PMID 32989287 DOI: 10.1038/s41562-020-00956-y |
0.34 |
|
| 2020 |
Dauber A, Meng Y, Audi L, Vedantam S, Weaver B, Carrascosa A, Albertsson-Wikland K, Ranke MB, Jorge AAL, Cara J, Wajnrajch MP, Lindberg A, Camacho-Hübner C, Hirschhorn JN. A Genomewide Pharmacogenetic Study of Growth Hormone Responsiveness. The Journal of Clinical Endocrinology and Metabolism. PMID 32652002 DOI: 10.1210/Clinem/Dgaa443 |
0.592 |
|
| 2020 |
Asgari S, Luo Y, Akbari A, Belbin GM, Li X, Harris DN, Selig M, Bartell E, Calderon R, Slowikowski K, Contreras C, Yataco R, Galea JT, Jimenez J, Coit JM, ... ... Hirschhorn JN, et al. A positively selected FBN1 missense variant reduces height in Peruvian individuals. Nature. PMID 32499652 DOI: 10.1038/S41586-020-2302-0 |
0.812 |
|
| 2020 |
Bartell E, Fujimoto M, Khoury JC, Khoury PR, Vedantam S, Astley CM, Hirschhorn JN, Dauber A. Protein QTL analysis of IGF-I and its binding proteins provides insights into growth biology. Human Molecular Genetics. 29: 2625-2636. PMID 32484228 DOI: 10.1093/Hmg/Ddaa103 |
0.803 |
|
| 2020 |
Hsu YH, Astley CM, Cole JB, Vedantam S, Mercader JM, Metspalu A, Fischer K, Fortney K, Morgen EK, Gonzalez C, Gonzalez ME, Esko T, Hirschhorn JN. Integrating untargeted metabolomics, genetically informed causal inference, and pathway enrichment to define the obesity metabolome. International Journal of Obesity (2005). PMID 32467615 DOI: 10.1038/S41366-020-0603-X |
0.773 |
|
| 2020 |
Goodman RP, Markhard AL, Shah H, Sharma R, Skinner OS, Clish CB, Deik A, Patgiri A, Hsu YH, Masia R, Noh HL, Suk S, Goldberger O, Hirschhorn JN, Yellen G, et al. Hepatic NADH reductive stress underlies common variation in metabolic traits. Nature. PMID 32461692 DOI: 10.1038/S41586-020-2337-2 |
0.771 |
|
| 2020 |
Cole JB, Florez JC, Hirschhorn JN. Comprehensive genomic analysis of dietary habits in UK Biobank identifies hundreds of genetic associations. Nature Communications. 11: 1467. PMID 32193382 DOI: 10.1038/S41467-020-15193-0 |
0.378 |
|
| 2020 |
Fujimoto M, Bartell E, Khoury JC, Khoury PR, Vedantam S, Dauber AN, Hirschhorn JN. SUN-054 Genetic Studies of Height-Associated Protein Expression Levels in Childhood Journal of the Endocrine Society. 4. DOI: 10.1210/Jendso/Bvaa046.1836 |
0.828 |
|
| 2020 |
Xu Y, De Rosa MC, Quarta C, Fisette A, Rausch R, Fleischman AD, Tschöp MH, García-Cáceres C, Hirschhorn JN, Doege CA, Thaker VV. OR33-06 Potential Role of Mutations in TBX3 in Human Weight Regulation Journal of the Endocrine Society. 4. DOI: 10.1210/Jendso/Bvaa046.1441 |
0.696 |
|
| 2020 |
Thaker VV, Seaby EG, Genetti C, Sutherland J, Ianello G, Rajabi F, Schreiber JM, Doege CA, Turer EE, Hirschhorn JN, Agrawal PB. OR33-07 ARNT2: A Potential Novel Candidate Gene for Monogenic Obesity in Humans Journal of the Endocrine Society. 4. DOI: 10.1210/Jendso/Bvaa046.1139 |
0.7 |
|
| 2019 |
Cabrera-Salcedo C, Hawkes CP, Tyzinski L, Andrew M, Labilloy G, Campos D, Feld A, Deodati A, Hwa V, Hirschhorn JN, Grimberg A, Dauber A. Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels. Hormone Research in Paediatrics. 1-10. PMID 31865343 DOI: 10.1159/000504884 |
0.594 |
|
| 2019 |
Mandl KD, Glauser T, Krantz ID, Avillach P, Bartels A, Beggs AH, Biswas S, Bourgeois FT, Corsmo J, Dauber A, Devkota B, Fleisher GR, Heath AP, Helbig I, Hirschhorn JN, et al. Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31772351 DOI: 10.1038/s41436-019-0711-y |
0.544 |
|
| 2019 |
Geidenstam N, Hsu YH, Astley CM, Mercader JM, Ridderstråle M, Gonzalez ME, Gonzalez C, Hirschhorn JN, Salem RM. Using metabolite profiling to construct and validate a metabolite risk score for predicting future weight gain. Plos One. 14: e0222445. PMID 31560688 DOI: 10.1371/Journal.Pone.0222445 |
0.767 |
|
| 2019 |
Salem RM, Todd JN, Sandholm N, Cole JB, Chen WM, Andrews D, Pezzolesi MG, McKeigue PM, Hiraki LT, Qiu C, Nair V, Di Liao C, Cao JJ, Valo E, Onengut-Gumuscu S, ... ... Hirschhorn JN, et al. Genome-Wide Association Study of Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen. Journal of the American Society of Nephrology : Jasn. PMID 31537649 DOI: 10.1681/Asn.2019030218 |
0.673 |
|
| 2019 |
Mandl KD, Glauser T, Krantz ID, Avillach P, Bartels A, Beggs AH, Biswas S, Bourgeois FT, Corsmo J, Dauber A, Devkota B, Fleisher GR, Heath AP, Helbig I, Hirschhorn JN, et al. The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31481752 DOI: 10.1038/S41436-019-0646-3 |
0.649 |
|
| 2019 |
Yu B, Zanetti KA, Temprosa M, Albanes D, Appel N, Barrera CB, Ben-Shlomo Y, Boerwinkle E, Casas JP, Clish C, Dale C, Dehghan A, Derkach A, Eliassen AH, Elliott P, ... ... Hirschhorn JN, et al. The Consortium of Metabolomics Studies (COMETS): Metabolomics in 47 Prospective Cohort Studies. American Journal of Epidemiology. 188: 991-1012. PMID 31155658 DOI: 10.1093/Aje/Kwz028 |
0.333 |
|
| 2019 |
Fine RS, Pers TH, Amariuta T, Raychaudhuri S, Hirschhorn JN. Benchmarker: An Unbiased, Association-Data-Driven Strategy to Evaluate Gene Prioritization Algorithms. American Journal of Human Genetics. PMID 31056107 DOI: 10.1016/J.Ajhg.2019.03.027 |
0.403 |
|
| 2019 |
Sohail M, Maier RM, Ganna A, Bloemendal A, Martin AR, Turchin MC, Chiang CW, Hirschhorn J, Daly MJ, Patterson N, Neale B, Mathieson I, Reich D, Sunyaev SR. Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies. Elife. 8. PMID 30895926 DOI: 10.7554/Elife.39702 |
0.646 |
|
| 2019 |
Ulirsch JC, Lareau CA, Bao EL, Ludwig LS, Guo MH, Benner C, Satpathy AT, Kartha VK, Salem RM, Hirschhorn JN, Finucane HK, Aryee MJ, Buenrostro JD, Sankaran VG. Interrogation of human hematopoiesis at single-cell and single-variant resolution. Nature Genetics. PMID 30858613 DOI: 10.1038/S41588-019-0362-6 |
0.808 |
|
| 2019 |
De Rosa MC, Chesi A, McCormack S, Zhou J, Weaver B, McDonald M, Christensen S, Liimatta K, Rosenbaum M, Hakonarson H, Doege CA, Grant SFA, Hirschhorn JN, Thaker VV. Characterization of rare variants in MC4R in African American and/or Latino children with severe early onset obesity. The Journal of Clinical Endocrinology and Metabolism. PMID 30811542 DOI: 10.1210/Jc.2018-02657 |
0.661 |
|
| 2019 |
Justice AE, Karaderi T, Highland HM, Young KL, Graff M, Lu Y, Turcot V, Auer PL, Fine RS, Guo X, Schurmann C, Lempradl A, Marouli E, Mahajan A, Winkler TW, ... ... Hirschhorn JN, et al. Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution. Nature Genetics. PMID 30778226 DOI: 10.1038/S41588-018-0334-2 |
0.379 |
|
| 2019 |
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 Computational Biology. 15: e1006734. PMID 30640898 DOI: 10.1371/Journal.Pcbi.1006734 |
0.77 |
|
| 2019 |
COLE JB, LEONG A, HIRSCHHORN J, FLOREZ JC. 308-OR: Genome-Wide Association Study of Food Frequency Questionnaire Single Nutrients and Dietary Patterns Uncover Hundreds of Genetic Associations Diabetes. 68: 308-OR. DOI: 10.2337/Db19-308-Or |
0.392 |
|
| 2018 |
Guo MH, Plummer L, Chan YM, Hirschhorn JN, Lippincott MF. Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data. American Journal of Human Genetics. PMID 30269813 DOI: 10.1016/J.Ajhg.2018.08.016 |
0.676 |
|
| 2018 |
Pulit SL, Stoneman C, Morris AP, Wood AR, Glastonbury CA, Tyrrell J, Yengo L, Ferreira T, Marouli E, Ji Y, Yang J, Jones S, Beaumont R, Croteau-Chonka DC, Winkler TW, ... ... Hirschhorn JN, et al. Meta-analysis of genome-wide association studies for body fat distribution in 694,649 individuals of European ancestry. Human Molecular Genetics. PMID 30239722 DOI: 10.1093/Hmg/Ddy327 |
0.381 |
|
| 2018 |
Yengo L, Sidorenko J, Kemper KE, Zheng Z, Wood AR, Weedon MN, Frayling TM, Hirschhorn J, Yang J, Visscher PM. Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry. Human Molecular Genetics. PMID 30124842 DOI: 10.1093/Hmg/Ddy271 |
0.468 |
|
| 2018 |
Guo MH, Hirschhorn JN, Dauber A. Insights and implications of genome wide association studies of height. The Journal of Clinical Endocrinology and Metabolism. PMID 29982553 DOI: 10.1210/Jc.2018-01126 |
0.786 |
|
| 2018 |
Speakman JR, Loos RJF, O'Rahilly S, Hirschhorn JN, Allison DB. GWAS for BMI: a treasure trove of fundamental insights into the genetic basis of obesity. International Journal of Obesity (2005). PMID 29980761 DOI: 10.1038/S41366-018-0147-5 |
0.391 |
|
| 2018 |
Kong SW, Lee IH, Liu X, Hirschhorn JN, Mandl KD. Measuring coverage and accuracy of whole-exome sequencing in clinical context. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29789557 DOI: 10.1038/Gim.2018.51 |
0.374 |
|
| 2018 |
van Zuydam NR, Ahlqvist E, Sandholm N, Deshmukh H, Rayner NW, Abdalla M, Ladenvall C, Ziemek D, Fauman E, Robertson NR, McKeigue PM, Valo E, Forsblom C, Harjutsalo V, ... ... Hirschhorn JN, et al. A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes. Diabetes. PMID 29703844 DOI: 10.2337/Db17-0914 |
0.677 |
|
| 2018 |
Cesana M, Guo MH, Cacchiarelli D, Wahlster L, Barragan J, Doulatov S, Vo LT, Salvatori B, Trapnell C, Clement K, Cahan P, Tsanov KM, Sousa PM, Tazon-Vega B, Bolondi A, ... ... Hirschhorn JN, et al. A CLK3-HMGA2 Alternative Splicing Axis Impacts Human Hematopoietic Stem Cell Molecular Identity throughout Development. Cell Stem Cell. 22: 575-588.e7. PMID 29625070 DOI: 10.1016/J.Stem.2018.03.012 |
0.616 |
|
| 2018 |
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. Clinical Chemistry. 64: 192-200. PMID 29295838 DOI: 10.1373/Clinchem.2017.280727 |
0.625 |
|
| 2018 |
Turcot V, Lu Y, Highland HM, Schurmann C, Justice AE, Fine RS, Bradfield JP, Esko T, Giri A, Graff M, Guo X, Hendricks AE, Karaderi T, Lempradl A, Locke AE, ... ... Hirschhorn JN, et al. Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nature Genetics. 50: 26-41. PMID 29273807 DOI: 10.1038/S41588-017-0011-X |
0.456 |
|
| 2018 |
Demenais F, Margaritte-Jeannin P, Barnes KC, Cookson WOC, Altmüller J, Ang W, Barr RG, Beaty TH, Becker AB, Beilby J, Bisgaard H, Bjornsdottir US, Bleecker E, Bønnelykke K, Boomsma DI, ... ... Hirschhorn JN, et al. Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks. Nature Genetics. 50: 42-53. PMID 29273806 DOI: 10.1038/S41588-017-0014-7 |
0.778 |
|
| 2018 |
Sohail M, Maier RM, Ganna A, Bloemendal A, Martin AR, Turchin MC, Chiang CW, Hirschhorn J, Daly MJ, Patterson N, Neale B, Mathieson I, Reich D, Sunyaev SR. Author response: Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies Elife. DOI: 10.7554/Elife.39702.042 |
0.374 |
|
| 2018 |
Bao EL, Ulirsch JC, Lareau CA, Ludwig LS, Guo MH, Benner C, Satpathy AT, Kartha VK, Salem RM, Hirschhorn JN, Finucane HK, Aryee MJ, Buenrostro JD, Sankaran VG. Dissecting the Regulation of Human Hematopoiesis at Single-Cell and Single-Variant Resolution Blood. 132: 531-531. DOI: 10.1182/Blood-2018-99-112624 |
0.794 |
|
| 2017 |
Guo M, Liu Z, Willen J, Shaw CP, Richard D, Jagoda E, Doxey AC, Hirschhorn J, Capellini TD. Epigenetic profiling of growth plate chondrocytes sheds insight into regulatory genetic variation influencing height. Elife. 6. PMID 29205154 DOI: 10.7554/Elife.29329 |
0.705 |
|
| 2017 |
Liu DJ, Peloso GM, Yu H, Butterworth AS, Wang X, Mahajan A, Saleheen D, Emdin C, Alam D, Alves AC, Amouyel P, Di Angelantonio E, Arveiler D, Assimes TL, Auer PL, ... ... Hirschhorn JN, et al. Exome-wide association study of plasma lipids in >300,000 individuals. Nature Genetics. PMID 29083408 DOI: 10.1038/Ng.3977 |
0.311 |
|
| 2017 |
Macé A, Tuke MA, Deelen P, Kristiansson K, Mattsson H, Nõukas M, Sapkota Y, Schick U, Porcu E, Rüeger S, McDaid AF, Porteous D, Winkler TW, Salvi E, Shrine N, ... ... Hirschhorn J, et al. CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits. Nature Communications. 8: 744. PMID 28963451 DOI: 10.1038/S41467-017-00556-X |
0.446 |
|
| 2017 |
Graff M, Scott RA, Justice AE, Young KL, Feitosa MF, Barata L, Winkler TW, Chu AY, Mahajan A, Hadley D, Xue L, Workalemahu T, Heard-Costa NL, den Hoed M, Ahluwalia TS, ... ... Hirschhorn JN, et al. Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Plos Genetics. 13: e1006528. PMID 28448500 DOI: 10.1371/Journal.Pgen.1006528 |
0.379 |
|
| 2017 |
Justice AE, Winkler TW, Feitosa MF, Graff M, Fisher VA, Young K, Barata L, Deng X, Czajkowski J, Hadley D, Ngwa JS, Ahluwalia TS, Chu AY, Heard-Costa NL, Lim E, ... ... Hirschhorn JN, et al. Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. Nature Communications. 8: 14977. PMID 28443625 DOI: 10.1038/Ncomms14977 |
0.431 |
|
| 2017 |
Ng MCY, Graff M, Lu Y, Justice AE, Mudgal P, Liu CT, Young K, Yanek LR, Feitosa MF, Wojczynski MK, Rand K, Brody JA, Cade BE, Dimitrov L, Duan Q, ... ... Hirschhorn JN, et al. Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African ancestry anthropometry genetics consortium. Plos Genetics. 13: e1006719. PMID 28430825 DOI: 10.1371/Journal.Pgen.1006719 |
0.816 |
|
| 2017 |
Wild PS, Felix JF, Schillert A, Teumer A, Chen MH, Leening MJ, Völker U, Großmann V, Brody JA, Irvin MR, Shah SJ, Pramana S, Lieb W, Schmidt R, Stanton AV, ... ... Hirschhorn JN, et al. Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function. The Journal of Clinical Investigation. PMID 28394258 DOI: 10.1172/Jci84840 |
0.399 |
|
| 2017 |
Swartz JM, Ciarlo R, Denhoff E, Abrha A, Diamond DA, Hirschhorn JN, Chan YM. Variation in the clinical and genetic evaluation of undervirilized boys with bifid scrotum and hypospadias. Journal of Pediatric Urology. PMID 28215832 DOI: 10.1016/J.Jpurol.2017.01.004 |
0.357 |
|
| 2017 |
Kreiner E, Waage J, Standl M, Brix S, Pers TH, Couto Alves A, Warrington NM, Tiesler CM, Fuertes E, Franke L, Hirschhorn JN, James A, Simpson A, Tung JY, Koppelman GH, et al. Shared genetic variants suggest common pathways in allergy and autoimmune diseases. The Journal of Allergy and Clinical Immunology. PMID 28188724 DOI: 10.1016/J.Jaci.2016.10.055 |
0.371 |
|
| 2017 |
Marouli E, Graff M, Medina-Gomez C, Lo KS, Wood AR, Kjaer TR, Fine RS, Lu Y, Schurmann C, Highland HM, Rüeger S, Thorleifsson G, Justice AE, Lamparter D, Stirrups KE, ... ... Hirschhorn JN, et al. Rare and low-frequency coding variants alter human adult height. Nature. PMID 28146470 DOI: 10.1038/Nature21039 |
0.474 |
|
| 2017 |
Hirschhorn K, Hirschhorn R, Hirschhorn JN. A Conversation with Kurt and Rochelle Hirschhorn. Annual Review of Genomics and Human Genetics. PMID 28142260 DOI: 10.1146/Annurev-Genom-080316-090927 |
0.396 |
|
| 2017 |
Esko T, Hirschhorn JN, Feldman HA, Hsu YH, Deik AA, Clish CB, Ebbeling CB, Ludwig DS. Metabolomic profiles as reliable biomarkers of dietary composition. The American Journal of Clinical Nutrition. PMID 28077380 DOI: 10.3945/Ajcn.116.144428 |
0.726 |
|
| 2017 |
Guo M, Liu Z, Willen J, Shaw CP, Richard D, Jagoda E, Doxey AC, Hirschhorn J, Capellini TD. Author response: Epigenetic profiling of growth plate chondrocytes sheds insight into regulatory genetic variation influencing height Elife. DOI: 10.7554/Elife.29329.037 |
0.67 |
|
| 2016 |
Guo MH, Nandakumar SK, Ulirsch JC, Zekavat SM, Buenrostro JD, Natarajan P, Salem RM, Chiarle R, Mitt M, Kals M, Pärn K, Fischer K, Milani L, Mägi R, Palta P, ... ... Hirschhorn JN, et al. Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms. Proceedings of the National Academy of Sciences of the United States of America. PMID 28031487 DOI: 10.1073/Pnas.1619052114 |
0.801 |
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| 2016 |
Ried JS, Jeff M J, Chu AY, Bragg-Gresham JL, van Dongen J, Huffman JE, Ahluwalia TS, Cadby G, Eklund N, Eriksson J, Esko T, Feitosa MF, Goel A, Gorski M, Hayward C, ... ... Hirschhorn JN, et al. A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape. Nature Communications. 7: 13357. PMID 27876822 DOI: 10.1038/Ncomms13357 |
0.644 |
|
| 2016 |
Swartz JM, Ciarlo R, Guo MH, Abrha A, Weaver B, Diamond DA, Chan YM, Hirschhorn JN. A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant. Hormone Research in Paediatrics. PMID 27855412 DOI: 10.1159/000452888 |
0.643 |
|
| 2016 |
van der Harst P, van Setten J, Verweij N, Vogler G, Franke L, Maurano MT, Wang X, Mateo Leach I, Eijgelsheim M, Sotoodehnia N, Hayward C, Sorice R, Meirelles O, Lyytikäinen LP, Polašek O, ... ... Hirschhorn JN, et al. 52 Genetic Loci Influencing Myocardial Mass. Journal of the American College of Cardiology. 68: 1435-48. PMID 27659466 DOI: 10.1016/J.Jacc.2016.07.729 |
0.641 |
|
| 2016 |
Sandholm N, Van Zuydam N, Ahlqvist E, Juliusdottir T, Deshmukh HA, Rayner NW, Di Camillo B, Forsblom C, Fadista J, Ziemek D, Salem RM, Hiraki LT, Pezzolesi M, Trégouët D, Dahlström E, ... ... Hirschhorn JN, et al. The Genetic Landscape of Renal Complications in Type 1 Diabetes. Journal of the American Society of Nephrology : Jasn. PMID 27647854 DOI: 10.1681/Asn.2016020231 |
0.666 |
|
| 2016 |
Ehret GB, Ferreira T, Chasman DI, Jackson AU, Schmidt EM, Johnson T, Thorleifsson G, Luan J, Donnelly LA, Kanoni S, Petersen AK, Pihur V, Strawbridge RJ, Shungin D, Hughes MF, ... ... Hirschhorn JN, et al. The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals. Nature Genetics. PMID 27618452 DOI: 10.1038/Ng.3667 |
0.338 |
|
| 2016 |
Swartz JM, Ciarlo R, Guo MH, Abrha A, Diamond DA, Chan YM, Hirschhorn JN. Two Unrelated Undervirilized 46,XY Males with Inherited NR5A1 Variants Identified by Whole-Exome Sequencing. Hormone Research in Paediatrics. PMID 27553487 DOI: 10.1159/000448754 |
0.658 |
|
| 2016 |
Chen GB, Lee SH, Robinson MR, Trzaskowski M, Zhu ZX, Winkler TW, Day FR, Croteau-Chonka DC, Wood AR, Locke AE, Kutalik Z, Loos RJ, Frayling TM, Hirschhorn JN, Yang J, et al. Across-cohort QC analyses of GWAS summary statistics from complex traits. European Journal of Human Genetics : Ejhg. PMID 27552965 DOI: 10.1038/Ejhg.2016.106 |
0.474 |
|
| 2016 |
Guo MH, Dauber A, Lippincott MF, Chan YM, Salem RM, Hirschhorn JN. Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders. American Journal of Human Genetics. PMID 27545677 DOI: 10.1016/J.Ajhg.2016.06.031 |
0.803 |
|
| 2016 |
Winkler TW, Justice AE, Graff M, Barata L, Feitosa MF, Chu S, Czajkowski J, Esko T, Fall T, Kilpeläinen TO, Lu Y, Mägi R, Mihailov E, Pers TH, Rüeger S, ... ... Hirschhorn JN, et al. Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. Plos Genetics. 12: e1006166. PMID 27355579 DOI: 10.1371/Journal.Pgen.1006166 |
0.554 |
|
| 2016 |
Tajuddin SM, Schick UM, Eicher JD, Chami N, Giri A, Brody JA, Hill WD, Kacprowski T, Li J, Lyytikäinen LP, Manichaikul A, Mihailov E, O'Donoghue ML, Pankratz N, Pazoki R, ... ... Hirschhorn JN, et al. Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases. American Journal of Human Genetics. PMID 27346689 DOI: 10.1016/J.Ajhg.2016.05.003 |
0.439 |
|
| 2016 |
Eicher JD, Chami N, Kacprowski T, Nomura A, Chen MH, Yanek LR, Tajuddin SM, Schick UM, Slater AJ, Pankratz N, Polfus L, Schurmann C, Giri A, Brody JA, Lange LA, ... ... Hirschhorn J, et al. Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals. American Journal of Human Genetics. PMID 27346686 DOI: 10.1016/J.Ajhg.2016.05.005 |
0.395 |
|
| 2016 |
Chami N, Chen MH, Slater AJ, Eicher JD, Evangelou E, Tajuddin SM, Love-Gregory L, Kacprowski T, Schick UM, Nomura A, Giri A, Lessard S, Brody JA, Schurmann C, Pankratz N, ... ... Hirschhorn JN, et al. Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits. American Journal of Human Genetics. PMID 27346685 DOI: 10.1016/J.Ajhg.2016.05.007 |
0.47 |
|
| 2016 |
Verweij N, Mateo Leach I, Isaacs A, Arking DE, Bis JC, Pers TH, van den Berg ME, Lyytikäinen LP, Barnett P, Wang X, Soliman EZ, van Duijn CM, Kähönen M, van Veldhuisen DJ, ... ... Hirschhorn JN, et al. Twenty-eight genetic loci associated with ST-T wave amplitudes of the electrocardiogram. Human Molecular Genetics. PMID 26962151 DOI: 10.1093/Hmg/Ddw058 |
0.347 |
|
| 2016 |
Lessard S, Manning AK, Low-Kam C, Auer PL, Giri A, Graff M, Schurmann C, Yaghootkar H, Luan J, Esko T, Karaderi T, ... ... Hirschhorn JN, et al. Testing the Role of Predicted Gene Knockouts in Human Anthropometric Trait Variation. Human Molecular Genetics. PMID 26908616 DOI: 10.1093/Hmg/Ddw055 |
0.438 |
|
| 2016 |
Boettger LM, Salem RM, Handsaker RE, Peloso GM, Kathiresan S, Hirschhorn JN, McCarroll SA. Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels. Nature Genetics. PMID 26901066 DOI: 10.1038/Ng.3510 |
0.69 |
|
| 2016 |
Lu Y, Day FR, Gustafsson S, Buchkovich ML, Na J, Bataille V, Cousminer DL, Dastani Z, Drong AW, Esko T, Evans DM, Falchi M, Feitosa MF, Ferreira T, Hedman ÅK, ... ... Hirschhorn JN, et al. New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk. Nature Communications. 7: 10495. PMID 26833246 DOI: 10.1038/Ncomms10495 |
0.45 |
|
| 2016 |
Pattaro C, Teumer A, Gorski M, Chu AY, Li M, Mijatovic V, Garnaas M, Tin A, Sorice R, Li Y, Taliun D, Olden M, Foster M, Yang Q, Chen MH, ... ... Hirschhorn JN, et al. Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. Nature Communications. 7: 10023. PMID 26831199 DOI: 10.1038/Ncomms10023 |
0.395 |
|
| 2016 |
Pers TH, Timshel P, Ripke S, Lent S, Sullivan PF, O'Donovan MC, Franke L, Hirschhorn JN. Comprehensive analysis of schizophrenia-associated loci highlights ion channel pathways and biologically plausible candidate causal genes. Human Molecular Genetics. PMID 26755824 DOI: 10.1093/Hmg/Ddw007 |
0.389 |
|
| 2016 |
Todd JN, Salem R, Sandholm N, Valo EA, Hiraki LT, Liao CD, Pezzolesi MG, Smiles A, Onengut-Gumuscu S, Chen WM, McGurnaghan S, McKeigue P, McKnight AJ, Maxwell AP, Colhoun HM, ... ... Hirschhorn JN, et al. Novel Genetic Determinants of Diabetic Kidney Disease Diabetes. 65. DOI: 10.2337/Db16-1-381 |
0.648 |
|
| 2015 |
Thaker VV, Lee F, Bottino CJ, Perry CL, Holm IA, Hirschhorn JN, Osganian SK. Impact of an Electronic Template on Documentation of Obesity in a Primary Care Clinic. Clinical Pediatrics. PMID 26676994 DOI: 10.1177/0009922815621331 |
0.65 |
|
| 2015 |
Giani FC, Fiorini C, Wakabayashi A, Ludwig LS, Salem RM, Jobaliya CD, Regan SN, Ulirsch JC, Liang G, Steinberg-Shemer O, Guo MH, Esko T, Tong W, Brugnara C, Hirschhorn JN, et al. Targeted Application of Human Genetic Variation Can Improve Red Blood Cell Production from Stem Cells. Cell Stem Cell. PMID 26607381 DOI: 10.1016/J.Stem.2015.09.015 |
0.751 |
|
| 2015 |
Felix JF, Bradfield JP, Monnereau C, van der Valk RJ, Stergiakouli E, Chesi A, Gaillard R, Feenstra B, Thiering E, Kreiner-Møller E, Mahajan A, Pitkänen N, Joro R, Cavadino A, Huikari V, ... ... Hirschhorn JN, et al. Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index. Human Molecular Genetics. PMID 26604143 DOI: 10.1093/Hmg/Ddv472 |
0.418 |
|
| 2015 |
Lettre G, Hirschhorn JN. Small island, big genetic discoveries. Nature Genetics. 47: 1224-5. PMID 26506900 DOI: 10.1038/Ng.3426 |
0.453 |
|
| 2015 |
Winkler TW, Justice AE, Graff M, Barata L, Feitosa MF, Chu S, Czajkowski J, Esko T, Fall T, Kilpeläinen TO, Lu Y, Mägi R, Mihailov E, Pers TH, Rüeger S, ... ... Hirschhorn JN, et al. The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. Plos Genetics. 11: e1005378. PMID 26426971 DOI: 10.1371/Journal.Pgen.1005378 |
0.607 |
|
| 2015 |
Hägg S, Ganna A, van der Laan SW, Esko T, Pers TH, Locke AE, Berndt SI, Justice AE, Kahali B, Siemelink MA, Pasterkamp G, Strachan DP, Speliotes EK, North KE, ... ... Hirschhorn JN, et al. Gene-Based Meta-Analysis of Genome-Wide Association Studies Implicates New Loci Involved in Obesity. Human Molecular Genetics. PMID 26376864 DOI: 10.1093/Hmg/Ddv379 |
0.478 |
|
| 2015 |
Yu Y, Yao R, Wang L, Fan Y, Huang X, Hirschhorn J, Dauber A, Shen Y. De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature. Bmc Genomics. 16: 701. PMID 26376624 DOI: 10.1186/S12864-015-1898-1 |
0.651 |
|
| 2015 |
Robinson MR, Hemani G, Medina-Gomez C, Mezzavilla M, Esko T, Shakhbazov K, Powell JE, Vinkhuyzen A, Berndt SI, Gustafsson S, Justice AE, Kahali B, Locke AE, Pers TH, Vedantam S, ... ... Hirschhorn JN, et al. Population genetic differentiation of height and body mass index across Europe. Nature Genetics. PMID 26366552 DOI: 10.1038/Ng.3401 |
0.413 |
|
| 2015 |
Todd JN, Dahlström EH, Salem RM, Sandholm N, Forsblom C, McKnight AJ, Maxwell AP, Brennan E, Sadlier D, Godson C, Groop PH, Hirschhorn JN, Florez JC. Genetic Evidence for a Causal Role of Obesity in Diabetic Kidney Disease. Diabetes. PMID 26307587 DOI: 10.2337/Db15-0254 |
0.659 |
|
| 2015 |
Joshi PK, Esko T, Mattsson H, Eklund N, Gandin I, Nutile T, Jackson AU, Schurmann C, Smith AV, Zhang W, Okada Y, Stančáková A, Faul JD, Zhao W, Bartz TM, ... ... Hirschhorn JN, et al. Directional dominance on stature and cognition in diverse human populations. Nature. 523: 459-62. PMID 26131930 DOI: 10.1038/Nature14618 |
0.701 |
|
| 2015 |
Usher CL, Handsaker RE, Esko T, Tuke MA, Weedon MN, Hastie AR, Cao H, Moon JE, Kashin S, Fuchsberger C, Metspalu A, Pato CN, Pato MT, McCarthy MI, Boehnke M, ... ... Hirschhorn JN, et al. Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity. Nature Genetics. PMID 26098870 DOI: 10.1038/Ng.3340 |
0.429 |
|
| 2015 |
Chan Y, Salem RM, Hsu YH, McMahon G, Pers TH, Vedantam S, Esko T, Guo MH, Lim ET, Franke L, Smith GD, Strachan DP, Hirschhorn JN. Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development. American Journal of Human Genetics. 96: 695-708. PMID 25865494 DOI: 10.1016/J.Ajhg.2015.02.018 |
0.832 |
|
| 2015 |
Nead KT, Li A, Wehner MR, Neupane B, Gustafsson S, Butterworth A, Engert JC, Davis AD, Hegele RA, Miller R, den Hoed M, Khaw KT, Kilpeläinen TO, Wareham N, Edwards TL, ... ... Hirschhorn JN, et al. Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331 175 individuals. Human Molecular Genetics. 24: 3582-94. PMID 25784503 DOI: 10.1093/Hmg/Ddv097 |
0.378 |
|
| 2015 |
Thaker VV, Esteves KM, Towne MC, Brownstein CA, James PM, Crowley L, Hirschhorn JN, Elsea SH, Beggs AH, Picker J, Agrawal PB. Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome. The Journal of Clinical Endocrinology and Metabolism. 100: 1723-30. PMID 25781356 DOI: 10.1210/Jc.2014-4215 |
0.689 |
|
| 2015 |
Wang SR, Jacobsen CM, Carmichael H, Edmund AB, Robinson JW, Olney RC, Miller TC, Moon JE, Mericq V, Potter LR, Warman ML, Hirschhorn JN, Dauber A. Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature. Human Mutation. 36: 474-81. PMID 25703509 DOI: 10.1002/Humu.22773 |
0.605 |
|
| 2015 |
Locke AE, Kahali B, Berndt SI, Justice AE, Pers TH, Day FR, Powell C, Vedantam S, Buchkovich ML, Yang J, Croteau-Chonka DC, Esko T, Fall T, Ferreira T, Gustafsson S, ... ... Hirschhorn JN, et al. Genetic studies of body mass index yield new insights for obesity biology. Nature. 518: 197-206. PMID 25673413 DOI: 10.1038/Nature14177 |
0.671 |
|
| 2015 |
Shungin D, Winkler TW, Croteau-Chonka DC, Ferreira T, Locke AE, Mägi R, Strawbridge RJ, Pers TH, Fischer K, Justice AE, Workalemahu T, Wu JM, Buchkovich ML, Heard-Costa NL, Roman TS, ... ... Hirschhorn JN, et al. New genetic loci link adipose and insulin biology to body fat distribution. Nature. 518: 187-96. PMID 25673412 DOI: 10.1038/Nature14132 |
0.691 |
|
| 2015 |
Zhu J, Choa RE, Guo MH, Plummer L, Buck C, Palmert MR, Hirschhorn JN, Seminara SB, Chan YM. A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism. The Journal of Clinical Endocrinology and Metabolism. 100: E646-54. PMID 25636053 DOI: 10.1210/Jc.2015-1080 |
0.671 |
|
| 2015 |
Baffour-Awuah NY, Fleet S, Montgomery RK, Baker SS, Butler JL, Campbell C, Tischfield S, Mitchell PD, Allende-Richter S, Moon JE, Fishman L, Bousvaros A, Fox V, Kuokkanen M, Grand RJ, ... Hirschhorn JN, et al. Functional significance of single nucleotide polymorphisms in the lactase gene in diverse US patients and evidence for a novel lactase persistence allele at -13909 in those of European ancestry. Journal of Pediatric Gastroenterology and Nutrition. 60: 182-91. PMID 25625576 DOI: 10.1097/Mpg.0000000000000595 |
0.383 |
|
| 2015 |
Pers TH, Karjalainen JM, Chan Y, Westra HJ, Wood AR, Yang J, Lui JC, Vedantam S, Gustafsson S, Esko T, Frayling T, Speliotes EK, Boehnke M, Raychaudhuri S, ... ... Hirschhorn JN, et al. Biological interpretation of genome-wide association studies using predicted gene functions. Nature Communications. 6: 5890. PMID 25597830 DOI: 10.1038/Ncomms6890 |
0.415 |
|
| 2015 |
Fehrmann RS, Karjalainen JM, Krajewska M, Westra HJ, Maloney D, Simeonov A, Pers TH, Hirschhorn JN, Jansen RC, Schultes EA, van Haagen HH, de Vries EG, te Meerman GJ, Wijmenga C, van Vugt MA, et al. Gene expression analysis identifies global gene dosage sensitivity in cancer. Nature Genetics. 47: 115-25. PMID 25581432 DOI: 10.1038/Ng.3173 |
0.344 |
|
| 2015 |
Pers TH, Timshel P, Hirschhorn JN. SNPsnap: a Web-based tool for identification and annotation of matched SNPs. Bioinformatics (Oxford, England). 31: 418-20. PMID 25316677 DOI: 10.1093/Bioinformatics/Btu655 |
0.401 |
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| 2015 |
van der Valk RJ, Kreiner-Møller E, Kooijman MN, Guxens M, Stergiakouli E, Sääf A, Bradfield JP, Geller F, Hayes MG, Cousminer DL, Körner A, Thiering E, Curtin JA, Myhre R, Huikari V, ... ... Hirschhorn JN, et al. A novel common variant in DCST2 is associated with length in early life and height in adulthood. Human Molecular Genetics. 24: 1155-68. PMID 25281659 DOI: 10.1093/Hmg/Ddu510 |
0.434 |
|
| 2014 |
Lim ET, Liu YP, Chan Y, Tiinamaija T, Käräjämäki A, Madsen E, Altshuler DM, Raychaudhuri S, Groop L, Flannick J, Hirschhorn JN, Katsanis N, Daly MJ. A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity. American Journal of Human Genetics. 95: 509-20. PMID 25439097 DOI: 10.1016/J.Ajhg.2014.09.015 |
0.391 |
|
| 2014 |
Swartz JM, Akinci A, Andrew SF, Si?irci A, Hirschhorn JN, Rosenfeld RG, Dauber A, Hwa V. A novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotype. Hormone Research in PæDiatrics. 82: 344-52. PMID 25376329 DOI: 10.1159/000368192 |
0.617 |
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| 2014 |
Wood AR, Esko T, Yang J, Vedantam S, Pers TH, Gustafsson S, Chu AY, Estrada K, Luan J, Kutalik Z, Amin N, Buchkovich ML, Croteau-Chonka DC, Day FR, Duan Y, ... ... Hirschhorn JN, et al. Defining the role of common variation in the genomic and biological architecture of adult human height. Nature Genetics. 46: 1173-86. PMID 25282103 DOI: 10.1038/Ng.3097 |
0.479 |
|
| 2014 |
Geller F, Feenstra B, Carstensen L, Pers TH, van Rooij IA, Körberg IB, Choudhry S, Karjalainen JM, Schnack TH, Hollegaard MV, Feitz WF, Roeleveld N, Hougaard DM, Hirschhorn JN, Franke L, et al. Genome-wide association analyses identify variants in developmental genes associated with hypospadias. Nature Genetics. 46: 957-63. PMID 25108383 DOI: 10.1038/Ng.3063 |
0.475 |
|
| 2014 |
Hoggart CJ, Venturini G, Mangino M, Gomez F, Ascari G, Zhao JH, Teumer A, Winkler TW, TÅ¡ernikova N, Luan J, Mihailov E, Ehret GB, Zhang W, Lamparter D, Esko T, ... ... Hirschhorn JN, et al. Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index. Plos Genetics. 10: e1004508. PMID 25078964 DOI: 10.1371/Journal.Pgen.1004508 |
0.434 |
|
| 2014 |
Lim ET, Würtz P, Havulinna AS, Palta P, Tukiainen T, Rehnström K, Esko T, Mägi R, Inouye M, Lappalainen T, Chan Y, Salem RM, Lek M, Flannick J, Sim X, ... ... Hirschhorn JN, et al. Distribution and medical impact of loss-of-function variants in the Finnish founder population. Plos Genetics. 10: e1004494. PMID 25078778 DOI: 10.1371/Journal.Pgen.1004494 |
0.778 |
|
| 2014 |
Pasaniuc B, Zaitlen N, Shi H, Bhatia G, Gusev A, Pickrell J, Hirschhorn J, Strachan DP, Patterson N, Price AL. Fast and accurate imputation of summary statistics enhances evidence of functional enrichment. Bioinformatics (Oxford, England). 30: 2906-14. PMID 24990607 DOI: 10.1093/Bioinformatics/Btu416 |
0.396 |
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| 2014 |
Guo MH, Shen Y, Walvoord EC, Miller TC, Moon JE, Hirschhorn JN, Dauber A. Whole exome sequencing to identify genetic causes of short stature. Hormone Research in Pã¦Diatrics. 82: 44-52. PMID 24970356 DOI: 10.1159/000360857 |
0.774 |
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| 2014 |
Dauber A, Rosenfeld RG, Hirschhorn JN. Genetic evaluation of short stature. The Journal of Clinical Endocrinology and Metabolism. 99: 3080-92. PMID 24915122 DOI: 10.1210/Jc.2014-1506 |
0.635 |
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| 2014 |
Wang SR, Agarwala V, Flannick J, Chiang CW, Altshuler D, Hirschhorn JN. Simulation of Finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland. American Journal of Human Genetics. 94: 710-20. PMID 24768551 DOI: 10.1016/J.Ajhg.2014.03.019 |
0.659 |
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| 2014 |
Nilsson O, Guo MH, Dunbar N, Popovic J, Flynn D, Jacobsen C, Lui JC, Hirschhorn JN, Baron J, Dauber A. Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations. The Journal of Clinical Endocrinology and Metabolism. 99: E1510-8. PMID 24762113 DOI: 10.1210/Jc.2014-1332 |
0.704 |
|
| 2014 |
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, ... ... Hirschhorn JN, et al. Guidelines for investigating causality of sequence variants in human disease. Nature. 508: 469-76. PMID 24759409 DOI: 10.1038/Nature13127 |
0.418 |
|
| 2014 |
Macedo DB, Abreu AP, Reis AC, Montenegro LR, Dauber A, Beneduzzi D, Cukier P, Silveira LF, Teles MG, Carroll RS, Junior GG, Filho GG, Gucev Z, Arnhold IJ, de Castro M, ... ... Hirschhorn JN, et al. Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3. The Journal of Clinical Endocrinology and Metabolism. 99: E1097-103. PMID 24628548 DOI: 10.1210/Jc.2013-3126 |
0.609 |
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| 2014 |
Chan Y, Lim ET, Sandholm N, Wang SR, McKnight AJ, Ripke S, Daly MJ, Neale BM, Salem RM, Hirschhorn JN. An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases. American Journal of Human Genetics. 94: 437-52. PMID 24607388 DOI: 10.1016/J.Ajhg.2014.02.006 |
0.682 |
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| 2014 |
Dauber A, Ercan A, Lee J, James P, Jacobs PP, Ashline DJ, Wang SR, Miller T, Hirschhorn JN, Nigrovic PA, Sackstein R. Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect. Human Molecular Genetics. 23: 2880-7. PMID 24403049 DOI: 10.1093/Hmg/Ddu001 |
0.569 |
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| 2014 |
Ito K, Bick AG, Flannick J, Friedman DJ, Genovese G, Parfenov MG, Depalma SR, Gupta N, Gabriel SB, Taylor HA, Fox ER, Newton-Cheh C, Kathiresan S, Hirschhorn JN, Altshuler DM, et al. Increased burden of cardiovascular disease in carriers of APOL1 genetic variants. Circulation Research. 114: 845-50. PMID 24379297 DOI: 10.1161/Circresaha.114.302347 |
0.347 |
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| 2014 |
Batey L, Moon JE, Yu Y, Wu B, Hirschhorn JN, Shen Y, Dauber A. A novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency. The Journal of Clinical Endocrinology and Metabolism. 99: E153-9. PMID 24243634 DOI: 10.1210/Jc.2013-3106 |
0.612 |
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| 2014 |
Hirschhorn J. 2013 Victor A. McKusick Leadership Award Introduction: Kurt and Rochelle Hirschhorn1 The American Journal of Human Genetics. 94: 334-335. DOI: 10.1016/J.Ajhg.2013.12.007 |
0.378 |
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| 2013 |
Ramasamy A, Kuokkanen M, Vedantam S, Gajdos ZK, Couto Alves A, Lyon HN, Ferreira MAR, Strachan DP, Zhao JH, Abramson MJ, Brown MA, Coin L, Dharmage SC, Duffy DL, Haahtela T, ... ... Hirschhorn JN, et al. Correction: Genome-Wide Association Studies of Asthma in Population-Based Cohorts Confirm Known and Suggested Loci and Identify an Additional Association near HLA. Plos One. 8. PMID 29294486 DOI: 10.1371/annotation/9630862b-4676-4b82-9869-8d8fbb2a2e65 |
0.787 |
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| 2013 |
Evans DM, Brion MJ, Paternoster L, Kemp JP, McMahon G, Munafò M, Whitfield JB, Medland SE, Montgomery GW, Timpson NJ, St Pourcain B, Lawlor DA, ... ... Hirschhorn J, et al. Mining the human phenome using allelic scores that index biological intermediates. Plos Genetics. 9: e1003919. PMID 24204319 DOI: 10.1371/Journal.Pgen.1003919 |
0.47 |
|
| 2013 |
Dauber A, Golzio C, Guenot C, Jodelka FM, Kibaek M, Kjaergaard S, Leheup B, Martinet D, Nowaczyk MJ, Rosenfeld JA, Zeesman S, Zunich J, Beckmann JS, Hirschhorn JN, Hastings ML, et al. SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. American Journal of Human Genetics. 93: 798-811. PMID 24140112 DOI: 10.1016/J.Ajhg.2013.09.010 |
0.683 |
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| 2013 |
Willer CJ, Schmidt EM, Sengupta S, Peloso GM, Gustafsson S, Kanoni S, Ganna A, Chen J, Buchkovich ML, Mora S, Beckmann JS, Bragg-Gresham JL, Chang HY, Demirkan A, ... ... Hirschhorn JN, et al. Discovery and refinement of loci associated with lipid levels. Nature Genetics. 45: 1274-83. PMID 24097068 DOI: 10.1038/Ng.2797 |
0.62 |
|
| 2013 |
Flannick J, Beer NL, Bick AG, Agarwala V, Molnes J, Gupta N, Burtt NP, Florez JC, Meigs JB, Taylor H, Lyssenko V, Irgens H, Fox E, Burslem F, Johansson S, ... ... Hirschhorn JN, et al. Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. Nature Genetics. 45: 1380-5. PMID 24097065 DOI: 10.1038/Ng.2794 |
0.433 |
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| 2013 |
Do R, Willer CJ, Schmidt EM, Sengupta S, Gao C, Peloso GM, Gustafsson S, Kanoni S, Ganna A, Chen J, Buchkovich ML, Mora S, Beckmann JS, Bragg-Gresham JL, Chang HY, ... ... Hirschhorn JN, et al. Common variants associated with plasma triglycerides and risk for coronary artery disease. Nature Genetics. 45: 1345-52. PMID 24097064 DOI: 10.1038/Ng.2795 |
0.57 |
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| 2013 |
Sandholm N, McKnight AJ, Salem RM, Brennan EP, Forsblom C, Harjutsalo V, Mäkinen VP, McKay GJ, Sadlier DM, Williams WW, Martin F, Panduru NM, Tarnow L, Tuomilehto J, Tryggvason K, ... ... Hirschhorn JN, et al. Chromosome 2q31.1 associates with ESRD in women with type 1 diabetes. Journal of the American Society of Nephrology : Jasn. 24: 1537-43. PMID 24029427 DOI: 10.1681/Asn.2012111122 |
0.678 |
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| 2013 |
Guo MH, Stoler J, Lui J, Nilsson O, Bianchi DW, Hirschhorn JN, Dauber A. Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature. American Journal of Medical Genetics. Part A. 161: 2519-27. PMID 23956117 DOI: 10.1002/Ajmg.A.36128 |
0.744 |
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| 2013 |
Hu YJ, Berndt SI, Gustafsson S, Ganna A, Hirschhorn J, North KE, Ingelsson E, Lin DY. Meta-analysis of gene-level associations for rare variants based on single-variant statistics. American Journal of Human Genetics. 93: 236-48. PMID 23891470 DOI: 10.1016/J.Ajhg.2013.06.011 |
0.443 |
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| 2013 |
Asai M, Ramachandrappa S, Joachim M, Shen Y, Zhang R, Nuthalapati N, Ramanathan V, Strochlic DE, Ferket P, Linhart K, Ho C, Novoselova TV, Garg S, Ridderstråle M, Marcus C, ... Hirschhorn JN, et al. Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity. Science (New York, N.Y.). 341: 275-8. PMID 23869016 DOI: 10.1126/Science.1233000 |
0.316 |
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| 2013 |
Bønnelykke K, Matheson MC, Pers TH, Granell R, Strachan DP, Alves AC, Linneberg A, Curtin JA, Warrington NM, Standl M, Kerkhof M, Jonsdottir I, Bukvic BK, Kaakinen M, Sleimann P, ... ... Hirschhorn JN, et al. Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization. Nature Genetics. 45: 902-6. PMID 23817571 DOI: 10.1038/Ng.2694 |
0.44 |
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| 2013 |
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. The Journal of Clinical Endocrinology and Metabolism. 98: E1428-37. PMID 23771920 DOI: 10.1210/Jc.2013-1534 |
0.649 |
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| 2013 |
Randall JC, Winkler TW, Kutalik Z, Berndt SI, Jackson AU, Monda KL, Kilpeläinen TO, Esko T, Mägi R, Li S, Workalemahu T, Feitosa MF, Croteau-Chonka DC, Day FR, Fall T, ... ... Hirschhorn JN, et al. Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. Plos Genetics. 9: e1003500. PMID 23754948 DOI: 10.1371/Journal.Pgen.1003500 |
0.434 |
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| 2013 |
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, ... ... Hirschhorn JN, et al. Central precocious puberty caused by mutations in the imprinted gene MKRN3. The New England Journal of Medicine. 368: 2467-75. PMID 23738509 DOI: 10.1056/Nejmoa1302160 |
0.614 |
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| 2013 |
Panagiotou OA, Willer CJ, Hirschhorn JN, Ioannidis JP. The power of meta-analysis in genome-wide association studies. Annual Review of Genomics and Human Genetics. 14: 441-65. PMID 23724904 DOI: 10.1146/Annurev-Genom-091212-153520 |
0.432 |
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| 2013 |
Kantor DB, Palmer CD, Young TR, Meng Y, Gajdos ZK, Lyon H, Price AL, Pollack S, London SJ, Loehr LR, Smith LJ, Kumar R, Jacobs DR, Petrini MF, O'Connor GT, ... ... Hirschhorn JN, et al. Replication and fine mapping of asthma-associated loci in individuals of African ancestry. Human Genetics. 132: 1039-47. PMID 23666277 DOI: 10.1007/S00439-013-1310-7 |
0.815 |
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| 2013 |
Demerath EW, Liu CT, Franceschini N, Chen G, Palmer JR, Smith EN, Chen CT, Ambrosone CB, Arnold AM, Bandera EV, Berenson GS, Bernstein L, Britton A, Cappola AR, Carlson CS, ... ... Hirschhorn J, et al. Genome-wide association study of age at menarche in African-American women. Human Molecular Genetics. 22: 3329-46. PMID 23599027 DOI: 10.1093/Hmg/Ddt181 |
0.801 |
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| 2013 |
Monda KL, Chen GK, Taylor KC, Palmer C, Edwards TL, Lange LA, Ng MC, Adeyemo AA, Allison MA, Bielak LF, Chen G, Graff M, Irvin MR, Rhie SK, Li G, ... ... Hirschhorn JN, et al. A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry. Nature Genetics. 45: 690-6. PMID 23583978 DOI: 10.1038/Ng.2608 |
0.636 |
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| 2013 |
Berndt SI, Gustafsson S, Mägi R, Ganna A, Wheeler E, Feitosa MF, Justice AE, Monda KL, Croteau-Chonka DC, Day FR, Esko T, Fall T, Ferreira T, Gentilini D, Jackson AU, ... ... Hirschhorn JN, et al. Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nature Genetics. 45: 501-12. PMID 23563607 DOI: 10.1038/Ng.2606 |
0.466 |
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| 2013 |
Fernández-Rhodes L, Demerath EW, Cousminer DL, Tao R, Dreyfus JG, Esko T, Smith AV, Gudnason V, Harris TB, Launer L, McArdle PF, Yerges-Armstrong LM, Elks CE, Strachan DP, Kutalik Z, ... ... Hirschhorn JN, et al. Association of adiposity genetic variants with menarche timing in 92,105 women of European descent. American Journal of Epidemiology. 178: 451-60. PMID 23558354 DOI: 10.1093/Aje/Kws473 |
0.425 |
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| 2013 |
Chen CY, Pollack S, Hunter DJ, Hirschhorn JN, Kraft P, Price AL. Improved ancestry inference using weights from external reference panels. Bioinformatics (Oxford, England). 29: 1399-406. PMID 23539302 DOI: 10.1093/Bioinformatics/Btt144 |
0.466 |
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| 2013 |
Hernaez R, McLean J, Lazo M, Brancati FL, Hirschhorn JN, Borecki IB, Harris TB, Nguyen T, Kamel IR, Bonekamp S, Eberhardt MS, Clark JM, Kao WH, Speliotes EK. Association between variants in or near PNPLA3, GCKR, and PPP1R3B with ultrasound-defined steatosis based on data from the third National Health and Nutrition Examination Survey. Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association. 11: 1183-1190.e2. PMID 23416328 DOI: 10.1016/J.Cgh.2013.02.011 |
0.407 |
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| 2013 |
Horikoshi M, Yaghootkar H, Mook-Kanamori DO, Sovio U, Taal HR, Hennig BJ, Bradfield JP, St Pourcain B, Evans DM, Charoen P, Kaakinen M, Cousminer DL, Lehtimäki T, Kreiner-Møller E, Warrington NM, ... ... Hirschhorn JN, et al. New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. Nature Genetics. 45: 76-82. PMID 23202124 DOI: 10.1038/Ng.2477 |
0.706 |
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| 2013 |
Dauber A, Stoler J, Hechter E, Safer J, Hirschhorn JN. Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder. The Journal of Pediatrics. 162: 202-4.e1. PMID 22974575 DOI: 10.1016/J.Jpeds.2012.07.055 |
0.587 |
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| 2013 |
Ramasamy A, Kuokkanen M, Vedantam S, Gajdos ZK, Alves AC, Lyon HN, Ferreira MAR, Strachan DP, Zhao JH, Abramson MJ, Brown MA, Coin L, Dharmage SC, Duffy DL, Haahtela T, ... ... Hirschhorn JN, et al. Correction: Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA (PLoS ONE) Plos One. 8. DOI: 10.1371/annotation/9630862b-4676-4b82-9869-8d8fbb2a2e65 |
0.796 |
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| 2013 |
Dauber A, Golzio C, Guenot C, Jodelka FM, Kibaek M, Kjaergaard S, Leheup B, Martinet D, Nowaczyk MJM, Rosenfeld JA, Zeesman S, Zunich J, Beckmann JS, Hirschhorn JN, Hastings ML, et al. Erratum: SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant (The American Journal of Human Genetics (2013) 93(5) (798–811) (S0002929713004230) (10.1016/j.ajhg.2013.09.010)) American Journal of Human Genetics. 93. DOI: 10.1016/J.Ajhg.2013.10.018 |
0.634 |
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| 2012 |
Carmichael H, Shen Y, Nguyen TT, Hirschhorn JN, Dauber A. Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype. Clinical Genetics. 84: 213-22. PMID 23167750 DOI: 10.1111/Cge.12064 |
0.638 |
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| 2012 |
Ramasamy A, Kuokkanen M, Vedantam S, Gajdos ZK, Couto Alves A, Lyon HN, Ferreira MA, Strachan DP, Zhao JH, Abramson MJ, Brown MA, Coin L, Dharmage SC, Duffy DL, Haahtela T, ... ... Hirschhorn JN, et al. Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA. Plos One. 7: e44008. PMID 23028483 DOI: 10.1371/Journal.Pone.0044008 |
0.811 |
|
| 2012 |
Sandholm N, Salem RM, McKnight AJ, Brennan EP, Forsblom C, Isakova T, McKay GJ, Williams WW, Sadlier DM, Mäkinen VP, Swan EJ, Palmer C, Boright AP, Ahlqvist E, Deshmukh HA, ... ... Hirschhorn JN, et al. New susceptibility loci associated with kidney disease in type 1 diabetes. Plos Genetics. 8: e1002921. PMID 23028342 DOI: 10.1371/Journal.Pgen.1002921 |
0.697 |
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| 2012 |
Yang J, Loos RJ, Powell JE, Medland SE, Speliotes EK, Chasman DI, Rose LM, Thorleifsson G, Steinthorsdottir V, Mägi R, Waite L, Smith AV, Yerges-Armstrong LM, Monda KL, Hadley D, ... ... Hirschhorn JN, et al. FTO genotype is associated with phenotypic variability of body mass index. Nature. 490: 267-72. PMID 22982992 DOI: 10.1038/Nature11401 |
0.483 |
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| 2012 |
Silveira-Neto AP, Leal LF, Emerman AB, Henderson KD, Piskounova E, Henderson BE, Gregory RI, Silveira LF, Hirschhorn JN, Nguyen TT, Beneduzzi D, Tusset C, Reis AC, Brito VN, Mendonca BB, et al. Absence of functional LIN28B mutations in a large cohort of patients with idiopathic central precocious puberty. Hormone Research in Pã¦Diatrics. 78: 144-50. PMID 22964795 DOI: 10.1159/000342212 |
0.386 |
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| 2012 |
Bick AG, Flannick J, Ito K, Cheng S, Vasan RS, Parfenov MG, Herman DS, DePalma SR, Gupta N, Gabriel SB, Funke BH, Rehm HL, Benjamin EJ, Aragam J, Taylor HA, ... ... Hirschhorn JN, et al. Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts. American Journal of Human Genetics. 91: 513-9. PMID 22958901 DOI: 10.1016/J.Ajhg.2012.07.017 |
0.402 |
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| 2012 |
Dauber A, Lafranchi SH, Maliga Z, Lui JC, Moon JE, McDeed C, Henke K, Zonana J, Kingman GA, Pers TH, Baron J, Rosenfeld RG, Hirschhorn JN, Harris MP, Hwa V. Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein. The Journal of Clinical Endocrinology and Metabolism. 97: E2140-51. PMID 22933543 DOI: 10.1210/Jc.2012-2150 |
0.626 |
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| 2012 |
Lui JC, Nilsson O, Chan Y, Palmer CD, Andrade AC, Hirschhorn JN, Baron J. Synthesizing genome-wide association studies and expression microarray reveals novel genes that act in the human growth plate to modulate height. Human Molecular Genetics. 21: 5193-201. PMID 22914739 DOI: 10.1093/Hmg/Dds347 |
0.444 |
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| 2012 |
Turchin MC, Chiang CW, Palmer CD, Sankararaman S, Reich D, Hirschhorn JN. Evidence of widespread selection on standing variation in Europe at height-associated SNPs. Nature Genetics. 44: 1015-9. PMID 22902787 DOI: 10.1038/Ng.2368 |
0.644 |
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| 2012 |
Voight BF, Kang HM, Ding J, Palmer CD, Sidore C, Chines PS, Burtt NP, Fuchsberger C, Li Y, Erdmann J, Frayling TM, Heid IM, Jackson AU, Johnson T, Kilpeläinen TO, ... ... Hirschhorn JN, et al. The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. Plos Genetics. 8: e1002793. PMID 22876189 DOI: 10.1371/Journal.Pgen.1002793 |
0.471 |
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| 2012 |
Vimaleswaran KS, Tachmazidou I, Zhao JH, Hirschhorn JN, Dudbridge F, Loos RJ. Candidate genes for obesity-susceptibility show enriched association within a large genome-wide association study for BMI. Human Molecular Genetics. 21: 4537-42. PMID 22791748 DOI: 10.1093/Hmg/Dds283 |
0.439 |
|
| 2012 |
Williams WW, Salem RM, McKnight AJ, Sandholm N, Forsblom C, Taylor A, Guiducci C, McAteer JB, McKay GJ, Isakova T, Brennan EP, Sadlier DM, Palmer C, Söderlund J, Fagerholm E, ... ... Hirschhorn JN, et al. Association testing of previously reported variants in a large case-control meta-analysis of diabetic nephropathy. Diabetes. 61: 2187-94. PMID 22721967 DOI: 10.2337/Db11-0751 |
0.69 |
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| 2012 |
Chiang CW, Liu CT, Lettre G, Lange LA, Jorgensen NW, Keating BJ, Vedantam S, Nock NL, Franceschini N, Reiner AP, Demerath EW, Boerwinkle E, Rotter JI, Wilson JG, North KE, ... ... Hirschhorn JN, et al. Ultraconserved elements in the human genome: association and transmission analyses of highly constrained single-nucleotide polymorphisms. Genetics. 192: 253-66. PMID 22714408 DOI: 10.1534/Genetics.112.141945 |
0.659 |
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| 2012 |
Bradfield JP, Taal HR, Timpson NJ, Scherag A, Lecoeur C, Warrington NM, Hypponen E, Holst C, Valcarcel B, Thiering E, Salem RM, Schumacher FR, Cousminer DL, Sleiman PM, Zhao J, ... ... Hirschhorn JN, et al. A genome-wide association meta-analysis identifies new childhood obesity loci. Nature Genetics. 44: 526-31. PMID 22484627 DOI: 10.1038/Ng.2247 |
0.695 |
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| 2012 |
Yang J, Ferreira T, Morris AP, Medland SE, Madden PA, Heath AC, Martin NG, Montgomery GW, Weedon MN, Loos RJ, Frayling TM, McCarthy MI, Hirschhorn JN, et al. Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits. Nature Genetics. 44: 369-75, S1-3. PMID 22426310 DOI: 10.1038/Ng.2213 |
0.447 |
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| 2012 |
Turchin MC, Hirschhorn JN. Gencrypt: One-way cryptographic hashes to detect overlapping individuals across samples Bioinformatics. 28: 886-888. PMID 22302573 DOI: 10.1093/Bioinformatics/Bts045 |
0.393 |
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| 2012 |
Panagiotou OA, Ioannidis JPA, Hirschhorn JN, Abecasis GR, Frayling TM, McCarthy MI, Lindgren CM, Beaty TH, Eriksson N, Polychronakos C, Kathirensan S, Plenge RM, Spritz R, Payami H, Martin ER, et al. What should the genome-wide significance threshold be? Empirical replication of borderline genetic associations International Journal of Epidemiology. 41: 273-286. PMID 22253303 DOI: 10.1093/Ije/Dyr178 |
0.327 |
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| 2012 |
Vergult S, Dauber A, Delle Chiaie B, Van Oudenhove E, Simon M, Rihani A, Loeys B, Hirschhorn J, Pfotenhauer J, Phillips JA, Mohammed S, Ogilvie C, Crolla J, Mortier G, Menten B. 17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations. European Journal of Human Genetics : Ejhg. 20: 534-9. PMID 22166941 DOI: 10.1038/Ejhg.2011.239 |
0.597 |
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| 2012 |
Dauber A, Nguyen TT, Sochett E, Cole DE, Horst R, Abrams SA, Carpenter TO, Hirschhorn JN. Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia. The Journal of Clinical Endocrinology and Metabolism. 97: E268-74. PMID 22112808 DOI: 10.1210/Jc.2011-1972 |
0.63 |
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| 2012 |
Lanktree M, Guo Y, Murtaza M, Glessner J, Bailey S, Onland-Moret N, Lettre G, Ongen H, Rajagopalan R, Johnson T, Shen H, Nelson C, Klopp N, Baumert J, Padmanabhan S, ... ... Hirschhorn J, et al. Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height The American Journal of Human Genetics. 90: 1116-1117. DOI: 10.1016/J.Ajhg.2012.05.017 |
0.409 |
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| 2011 |
Chan Y, Holmen OL, 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, ... ... Hirschhorn JN, et al. Common variants show predicted polygenic effects on height in the tails of the distribution, except in extremely short individuals. Plos Genetics. 7: e1002439. PMID 22242009 DOI: 10.1371/Journal.Pgen.1002439 |
0.694 |
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| 2011 |
Dauber A, Yu Y, Turchin MC, Chiang CW, Meng YA, Demerath EW, Patel SR, Rich SS, Rotter JI, Schreiner PJ, Wilson JG, Shen Y, Wu BL, Hirschhorn JN. Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions. American Journal of Human Genetics. 89: 751-9. PMID 22118881 DOI: 10.1016/J.Ajhg.2011.10.014 |
0.769 |
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| 2011 |
N'Diaye A, Chen GK, Palmer CD, Ge B, Tayo B, Mathias RA, Ding J, Nalls MA, Adeyemo A, Adoue V, Ambrosone CB, Atwood L, Bandera EV, Becker LC, Berndt SI, ... ... Hirschhorn JN, et al. Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. Plos Genetics. 7: e1002298. PMID 21998595 DOI: 10.1371/Journal.Pgen.1002298 |
0.47 |
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| 2011 |
Liu M, Rogers L, Cheng Q, Shao Y, Fernandez-Beros ME, Hirschhorn JN, Lyon HN, Gajdos ZK, Vedantam S, Gregersen P, Seldin MF, Bleck B, Ramasamy A, Hartikainen AL, Jarvelin MR, et al. Genetic variants of TSLP and asthma in an admixed urban population. Plos One. 6: e25099. PMID 21966427 DOI: 10.1371/Journal.Pone.0025099 |
0.785 |
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| 2011 |
Ferreira MA, Matheson MC, Duffy DL, Marks GB, Hui J, Le Souëf P, Danoy P, Baltic S, Nyholt DR, Jenkins M, Hayden C, Willemsen G, Ang W, Kuokkanen M, Beilby J, ... ... Hirschhorn JN, et al. Identification of IL6R and chromosome 11q13.5 as risk loci for asthma. Lancet. 378: 1006-14. PMID 21907864 DOI: 10.1016/S0140-6736(11)60874-X |
0.392 |
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| 2011 |
Bhatia G, Patterson N, Pasaniuc B, Zaitlen N, Genovese G, Pollack S, Mallick S, Myers S, Tandon A, Spencer C, Palmer CD, Adeyemo AA, Akylbekova EL, Cupples LA, Divers J, ... ... Hirschhorn J, et al. Genome-wide comparison of African-ancestry populations from CARe and other cohorts reveals signals of natural selection. American Journal of Human Genetics. 89: 368-81. PMID 21907010 DOI: 10.1016/J.Ajhg.2011.07.025 |
0.405 |
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| 2011 |
Hinch AG, Tandon A, Patterson N, Song Y, Rohland N, Palmer CD, Chen GK, Wang K, Buxbaum SG, Akylbekova EL, Aldrich MC, Ambrosone CB, Amos C, Bandera EV, Berndt SI, ... ... Hirschhorn JN, et al. The landscape of recombination in African Americans. Nature. 476: 170-5. PMID 21775986 DOI: 10.1038/Nature10336 |
0.436 |
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| 2011 |
Kilpeläinen TO, Zillikens MC, StanÄákova A, Finucane FM, Ried JS, Langenberg C, Zhang W, Beckmann JS, Luan J, Vandenput L, Styrkarsdottir U, Zhou Y, Smith AV, Zhao JH, Amin N, ... ... Hirschhorn JN, et al. Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile. Nature Genetics. 43: 753-60. PMID 21706003 DOI: 10.1038/Ng.866 |
0.417 |
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| 2011 |
Pasaniuc B, Zaitlen N, Lettre G, Chen GK, Tandon A, Kao WH, Ruczinski I, Fornage M, Siscovick DS, Zhu X, Larkin E, Lange LA, Cupples LA, Yang Q, Akylbekova EL, ... ... Hirschhorn JN, et al. Enhanced statistical tests for GWAS in admixed populations: assessment using African Americans from CARe and a Breast Cancer Consortium. Plos Genetics. 7: e1001371. PMID 21541012 DOI: 10.1371/Journal.Pgen.1001371 |
0.395 |
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| 2011 |
Moorjani P, Patterson N, Hirschhorn JN, Keinan A, Hao L, Atzmon G, Burns E, Ostrer H, Price AL, Reich D. The history of African gene flow into Southern Europeans, Levantines, and Jews. Plos Genetics. 7: e1001373. PMID 21533020 DOI: 10.1371/Journal.Pgen.1001373 |
0.35 |
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| 2011 |
Dauber A, Hirschhorn JN. Genome-wide association studies in pediatric endocrinology. Hormone Research in PæDiatrics. 75: 322-8. PMID 21464565 DOI: 10.1159/000326684 |
0.656 |
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| 2011 |
Chiang CW, Gajdos ZK, Korn JM, Butler JL, Hackett R, Guiducci C, Nguyen TT, Wilks R, Forrester T, Henderson KD, Le Marchand L, Henderson BE, Haiman CA, Cooper RS, Lyon HN, ... ... Hirschhorn JN, et al. The efficacy of detecting variants with small effects on the Affymetrix 6.0 platform using pooled DNA. Human Genetics. 130: 607-21. PMID 21424828 DOI: 10.1007/S00439-011-0974-0 |
0.816 |
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| 2011 |
Speliotes EK, Yerges-Armstrong LM, Wu J, Hernaez R, Kim LJ, Palmer CD, Gudnason V, Eiriksdottir G, Garcia ME, Launer LJ, Nalls MA, Clark JM, Mitchell BD, Shuldiner AR, Butler JL, ... ... Hirschhorn JN, et al. Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits. Plos Genetics. 7: e1001324. PMID 21423719 DOI: 10.1371/Journal.Pgen.1001324 |
0.46 |
|
| 2011 |
Zhu X, Young JH, Fox E, Keating BJ, Franceschini N, Kang S, Tayo B, Adeyemo A, Sun YV, Li Y, Morrison A, Newton-Cheh C, Liu K, Ganesh SK, Kutlar A, ... ... Hirschhorn JN, et al. Combined admixture mapping and association analysis identifies a novel blood pressure genetic locus on 5p13: contributions from the CARe consortium. Human Molecular Genetics. 20: 2285-95. PMID 21422096 DOI: 10.1093/Hmg/Ddr113 |
0.67 |
|
| 2011 |
Yang J, Weedon MN, Purcell S, Lettre G, Estrada K, Willer CJ, Smith AV, Ingelsson E, O'Connell JR, Mangino M, Mägi R, Madden PA, Heath AC, Nyholt DR, Martin NG, ... ... Hirschhorn JN, et al. Genomic inflation factors under polygenic inheritance. European Journal of Human Genetics : Ejhg. 19: 807-12. PMID 21407268 DOI: 10.1038/Ejhg.2011.39 |
0.459 |
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| 2011 |
Lettre G, Palmer CD, Young T, Ejebe KG, Allayee H, Benjamin EJ, Bennett F, Bowden DW, Chakravarti A, Dreisbach A, Farlow DN, Folsom AR, Fornage M, Forrester T, Fox E, ... ... Hirschhorn JN, et al. Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. Plos Genetics. 7: e1001300. PMID 21347282 DOI: 10.1371/Journal.Pgen.1001300 |
0.441 |
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| 2011 |
Hirschhorn JN, Gajdos ZK. Genome-wide association studies: results from the first few years and potential implications for clinical medicine. Annual Review of Medicine. 62: 11-24. PMID 21226609 DOI: 10.1146/Annurev.Med.091708.162036 |
0.83 |
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| 2011 |
Lanktree MB, Guo Y, Murtaza M, Glessner JT, Bailey SD, Onland-Moret NC, Lettre G, Ongen H, Rajagopalan R, Johnson T, Shen H, Nelson CP, Klopp N, Baumert J, Padmanabhan S, ... ... Hirschhorn JN, et al. Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. American Journal of Human Genetics. 88: 6-18. PMID 21194676 DOI: 10.1016/J.Ajhg.2010.11.007 |
0.493 |
|
| 2011 |
Dedoussis GV, Yannakoulia M, Timpson NJ, Manios Y, Kanoni S, Scott RA, Papoutsakis C, Deloukas P, Pitsiladis YP, Davey-Smith G, Hirschhorn JN, Lyon HN. Does a short breastfeeding period protect from FTO-induced adiposity in children? International Journal of Pediatric Obesity : Ijpo : An Official Journal of the International Association For the Study of Obesity. 6: e326-35. PMID 20863147 DOI: 10.3109/17477166.2010.490269 |
0.373 |
|
| 2011 |
Dedoussis GV, Manios Y, Kourlaba G, Kanoni S, Lagou V, Butler J, Papoutsakis C, Scott RA, Yannakoulia M, Pitsiladis YP, Hirschhorn JN, Lyon HN. An age-dependent diet-modified effect of the PPARγ Pro12Ala polymorphism in children. Metabolism: Clinical and Experimental. 60: 467-73. PMID 20580778 DOI: 10.1016/J.Metabol.2010.04.007 |
0.313 |
|
| 2010 |
Galarneau G, Palmer CD, Sankaran VG, Orkin SH, Hirschhorn JN, Lettre G. Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation Nature Genetics. 42: 1049-1051. PMID 21057501 DOI: 10.1038/Ng.707 |
0.435 |
|
| 2010 |
Dauber A, Hirschhorn JN, Picker J, Maher TA, Milunsky A. Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome. Pediatrics. 126: e1594-8. PMID 21041284 DOI: 10.1542/Peds.2010-0164 |
0.622 |
|
| 2010 |
Sankaran VG, Lettre G, Orkin SH, Hirschhorn JN. Modifier genes in Mendelian disorders: the example of hemoglobin disorders. Annals of the New York Academy of Sciences. 1214: 47-56. PMID 21039591 DOI: 10.1111/J.1749-6632.2010.05821.X |
0.352 |
|
| 2010 |
Speliotes EK, Willer CJ, Berndt SI, Monda KL, Thorleifsson G, Jackson AU, Lango Allen H, Lindgren CM, Luan J, Mägi R, Randall JC, Vedantam S, Winkler TW, Qi L, Workalemahu T, ... ... Hirschhorn JN, et al. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nature Genetics. 42: 937-48. PMID 20935630 DOI: 10.1038/Ng.686 |
0.655 |
|
| 2010 |
Heid IM, Jackson AU, Randall JC, Winkler TW, Qi L, Steinthorsdottir V, Thorleifsson G, Zillikens MC, Speliotes EK, Mägi R, Workalemahu T, White CC, Bouatia-Naji N, Harris TB, Berndt SI, ... ... Hirschhorn JN, et al. Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nature Genetics. 42: 949-60. PMID 20935629 DOI: 10.1038/Ng.685 |
0.634 |
|
| 2010 |
Assimes TL, Hólm H, Kathiresan S, Reilly MP, Thorleifsson G, Voight BF, Erdmann J, Willenborg C, Vaidya D, Xie C, Patterson CC, Morgan TM, Burnett MS, Li M, Hlatky MA, ... ... Hirschhorn JN, et al. Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies. Journal of the American College of Cardiology. 56: 1552-63. PMID 20933357 DOI: 10.1016/J.Jacc.2010.06.022 |
0.364 |
|
| 2010 |
Qin H, Morris N, Kang SJ, Li M, Tayo B, Lyon H, Hirschhorn J, Cooper RS, Zhu X. Interrogating local population structure for fine mapping in genome-wide association studies. Bioinformatics (Oxford, England). 26: 2961-8. PMID 20889494 DOI: 10.1093/Bioinformatics/Btq560 |
0.415 |
|
| 2010 |
Lango Allen H, Estrada K, Lettre G, Berndt SI, Weedon MN, Rivadeneira F, Willer CJ, Jackson AU, Vedantam S, Raychaudhuri S, Ferreira T, Wood AR, Weyant RJ, Segrè AV, Speliotes EK, ... ... Hirschhorn JN, et al. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature. 467: 832-8. PMID 20881960 DOI: 10.1038/Nature09410 |
0.81 |
|
| 2010 |
Lee JJ, Essers JB, Kugathasan S, Escher JC, Lettre G, Butler JL, Stephens MC, Ramoni MF, Grand RJ, Hirschhorn J. Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study. Annals of Human Genetics. 74: 489-97. PMID 20846217 DOI: 10.1111/J.1469-1809.2010.00606.X |
0.345 |
|
| 2010 |
Gupta R, Ejebe K, Butler J, Lettre G, Lyon H, Guiducci C, Wilks R, Bennett F, Forrester T, Tayo B, Musunuru K, Hirschhorn J, Kathiresan S, Cooper RS, McKenzie CA. Association of common DNA sequence variants at 33 genetic loci with blood lipids in individuals of African ancestry from Jamaica. Human Genetics. 128: 557-561. PMID 20839009 DOI: 10.1007/S00439-010-0887-3 |
0.432 |
|
| 2010 |
Speliotes EK, Butler JL, Palmer CD, Voight BF, Hirschhorn JN. PNPLA3 variants specifically confer increased risk for histologic nonalcoholic fatty liver disease but not metabolic disease. Hepatology (Baltimore, Md.). 52: 904-12. PMID 20648472 DOI: 10.1002/Hep.23768 |
0.381 |
|
| 2010 |
Zhu H, Shah S, Shyh-Chang N, Shinoda G, Einhorn WS, Viswanathan SR, Takeuchi A, Grasemann C, Rinn JL, Lopez MF, Hirschhorn JN, Palmert MR, Daley GQ. Lin28a transgenic mice manifest size and puberty phenotypes identified in human genetic association studies. Nature Genetics. 42: 626-30. PMID 20512147 DOI: 10.1038/Ng.593 |
0.373 |
|
| 2010 |
Hassanein MT, Lyon HN, Nguyen TT, Akylbekova EL, Waters K, Lettre G, Tayo B, Forrester T, Sarpong DF, Stram DO, Butler JL, Wilks R, Liu J, Le Marchand L, Kolonel LN, ... ... Hirschhorn JN, et al. Fine mapping of the association with obesity at the FTO locus in African-derived populations. Human Molecular Genetics. 19: 2907-16. PMID 20430937 DOI: 10.1093/Hmg/Ddq178 |
0.468 |
|
| 2010 |
Musunuru K, Lettre G, Young T, Farlow DN, Pirruccello JP, Ejebe KG, Keating BJ, Yang Q, Chen MH, Lapchyk N, Crenshaw A, Ziaugra L, Rachupka A, Benjamin EJ, Cupples LA, ... ... Hirschhorn JN, et al. Candidate gene association resource (CARe): design, methods, and proof of concept. Circulation. Cardiovascular Genetics. 3: 267-75. PMID 20400780 DOI: 10.1161/Circgenetics.109.882696 |
0.407 |
|
| 2010 |
Kang SJ, Chiang CW, Palmer CD, Tayo BO, Lettre G, Butler JL, Hackett R, Adeyemo AA, Guiducci C, Berzins I, Nguyen TT, Feng T, Luke A, Shriner D, Ardlie K, ... ... Hirschhorn JN, et al. Genome-wide association of anthropometric traits in African- and African-derived populations. Human Molecular Genetics. 19: 2725-38. PMID 20400458 DOI: 10.1093/Hmg/Ddq154 |
0.667 |
|
| 2010 |
Widén E, Ripatti S, Cousminer DL, Surakka I, Lappalainen T, Järvelin MR, Eriksson JG, Raitakari O, Salomaa V, Sovio U, Hartikainen AL, Pouta A, McCarthy MI, Osmond C, Kajantie E, ... ... Hirschhorn JN, et al. Distinct variants at LIN28B influence growth in height from birth to adulthood. American Journal of Human Genetics. 86: 773-82. PMID 20398887 DOI: 10.1016/J.Ajhg.2010.03.010 |
0.609 |
|
| 2010 |
Chiang CW, Gajdos ZK, Korn JM, Kuruvilla FG, Butler JL, Hackett R, Guiducci C, Nguyen TT, Wilks R, Forrester T, Haiman CA, Henderson KD, Le Marchand L, Henderson BE, Palmert MR, ... ... Hirschhorn JN, et al. Rapid assessment of genetic ancestry in populations of unknown origin by genome-wide genotyping of pooled samples. Plos Genetics. 6: e1000866. PMID 20221249 DOI: 10.1371/Journal.Pgen.1000866 |
0.818 |
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| 2010 |
Gajdos ZK, Henderson KD, Hirschhorn JN, Palmert MR. Genetic determinants of pubertal timing in the general population. Molecular and Cellular Endocrinology. 324: 21-9. PMID 20144687 DOI: 10.1016/J.Mce.2010.01.038 |
0.814 |
|
| 2010 |
Mootha VK, Hirschhorn JN. Inborn variation in metabolism. Nature Genetics. 42: 97-8. PMID 20104246 DOI: 10.1038/Ng0210-97 |
0.345 |
|
| 2010 |
Cotsapas C, Speliotes EK, Hatoum IJ, Greenawalt DM, Dobrin R, Lum PY, Suver C, Chudin E, Kemp D, Reitman M, Voight BF, Neale BM, Schadt EE, Hirschhorn JN, Kaplan LM, et al. Corrigendum to Common body mass index-associated variants confer risk of extreme obesity [Human Molecular Genetics, 2009; 18;18, 3502-3507, 10.1093/hmg/ddp292] Human Molecular Genetics. 19: 3690-3691. DOI: 10.1093/Hmg/Ddq287 |
0.386 |
|
| 2009 |
Heid IM, Huth C, Loos RJ, Kronenberg F, Adamkova V, Anand SS, Ardlie K, Biebermann H, Bjerregaard P, Boeing H, Bouchard C, Ciullo M, Cooper JA, Corella D, Dina C, ... ... Hirschhorn JN, et al. Meta-analysis of the INSIG2 association with obesity including 74,345 individuals: does heterogeneity of estimates relate to study design? Plos Genetics. 5: e1000694. PMID 19851442 DOI: 10.1371/Journal.Pgen.1000694 |
0.377 |
|
| 2009 |
Travis RC, Schumacher F, Hirschhorn JN, Kraft P, Allen NE, Albanes D, Berglund G, Berndt SI, Boeing H, Bueno-de-Mesquita HB, Calle EE, Chanock S, Dunning AM, Hayes R, Feigelson HS, et al. CYP19A1 genetic variation in relation to prostate cancer risk and circulating sex hormone concentrations in men from the Breast and Prostate Cancer Cohort Consortium. Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association For Cancer Research, Cosponsored by the American Society of Preventive Oncology. 18: 2734-44. PMID 19789370 DOI: 10.1158/1055-9965.Epi-09-0496 |
0.309 |
|
| 2009 |
Heard-Costa NL, Zillikens MC, Monda KL, Johansson A, Harris TB, Fu M, Haritunians T, Feitosa MF, Aspelund T, Eiriksdottir G, Garcia M, Launer LJ, Smith AV, Mitchell BD, McArdle PF, ... ... Hirschhorn JN, et al. NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium. Plos Genetics. 5: e1000539. PMID 19557197 DOI: 10.1371/Journal.Pgen.1000539 |
0.434 |
|
| 2009 |
Lindgren CM, Heid IM, Randall JC, Lamina C, Steinthorsdottir V, Qi L, Speliotes EK, Thorleifsson G, Willer CJ, Herrera BM, Jackson AU, Lim N, Scheet P, Soranzo N, Amin N, ... ... Hirschhorn JN, et al. Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution. Plos Genetics. 5: e1000508. PMID 19557161 DOI: 10.1371/Journal.Pgen.1000508 |
0.413 |
|
| 2009 |
Cotsapas C, Speliotes EK, Hatoum IJ, Greenawalt DM, Dobrin R, Lum PY, Suver C, Chudin E, Kemp D, Reitman M, Voight BF, Neale BM, Schadt EE, Hirschhorn JN, Kaplan LM, et al. Common body mass index-associated variants confer risk of extreme obesity. Human Molecular Genetics. 18: 3502-7. PMID 19553259 DOI: 10.1093/Hmg/Ddp292 |
0.45 |
|
| 2009 |
Hirschhorn JN, Lettre G. Progress in genome-wide association studies of human height Hormone Research. 71: 5-13. PMID 19407491 DOI: 10.1159/000192430 |
0.511 |
|
| 2009 |
Hirschhorn JN. Genomewide association studies - Illuminating biologic pathways New England Journal of Medicine. 360: 1699-1701. PMID 19369661 DOI: 10.1056/Nejmp0808934 |
0.375 |
|
| 2009 |
Newton-Cheh C, Larson MG, Vasan RS, Levy D, Bloch KD, Surti A, Guiducci C, Kathiresan S, Benjamin EJ, Struck J, Morgenthaler NG, Bergmann A, Blankenberg S, Kee F, Nilsson P, ... ... Hirschhorn JN, et al. Association of common variants in NPPA and NPPB with circulating natriuretic peptides and blood pressure. Nature Genetics. 41: 348-53. PMID 19219041 DOI: 10.1038/Ng.328 |
0.315 |
|
| 2009 |
Kathiresan S, Voight BF, Purcell S, Musunuru K, Ardissino D, Mannucci PM, Anand S, Engert JC, Samani NJ, Schunkert H, Erdmann J, Reilly MP, Rader DJ, Morgan T, ... ... Hirschhorn JN, et al. Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nature Genetics. 41: 334-41. PMID 19198609 DOI: 10.1038/Ng.327 |
0.414 |
|
| 2009 |
Egyud MR, Gajdos ZK, Butler JL, Tischfield S, Le Marchand L, Kolonel LN, Haiman CA, Henderson BE, Hirschhorn JN. Use of weighted reference panels based on empirical estimates of ancestry for capturing untyped variation. Human Genetics. 125: 295-303. PMID 19184111 DOI: 10.1007/S00439-009-0627-8 |
0.798 |
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| 2009 |
Gajdos ZK, Hirschhorn JN, Palmert MR. What controls the timing of puberty? An update on progress from genetic investigation. Current Opinion in Endocrinology, Diabetes, and Obesity. 16: 16-24. PMID 19104234 DOI: 10.1097/Med.0B013E328320253C |
0.811 |
|
| 2009 |
Willer CJ, Speliotes EK, Loos RJ, Li S, Lindgren CM, Heid IM, Berndt SI, Elliott AL, Jackson AU, Lamina C, Lettre G, Lim N, Lyon HN, McCarroll SA, Papadakis K, ... ... Hirschhorn JN, et al. Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nature Genetics. 41: 25-34. PMID 19079261 DOI: 10.1038/Ng.287 |
0.422 |
|
| 2008 |
Sankaran VG, Menne TF, Xu J, Akie TE, Lettre G, Van Handel B, Mikkola HK, Hirschhorn JN, Cantor AB, Orkin SH. Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science (New York, N.Y.). 322: 1839-42. PMID 19056937 DOI: 10.1126/science.1165409 |
0.328 |
|
| 2008 |
Keating BJ, Tischfield S, Murray SS, Bhangale T, Price TS, Glessner JT, Galver L, Barrett JC, Grant SF, Farlow DN, Chandrupatla HR, Hansen M, Ajmal S, Papanicolaou GJ, Guo Y, ... ... Hirschhorn JN, et al. Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. Plos One. 3: e3583. PMID 18974833 DOI: 10.1371/Journal.Pone.0003583 |
0.679 |
|
| 2008 |
Chiang CW, Derti A, Schwartz D, Chou MF, Hirschhorn JN, Wu CT. Ultraconserved elements: analyses of dosage sensitivity, motifs and boundaries. Genetics. 180: 2277-93. PMID 18957701 DOI: 10.1534/Genetics.108.096537 |
0.584 |
|
| 2008 |
McCarthy MI, Hirschhorn JN. Genome-wide association studies: Potential next steps on a genetic journey Human Molecular Genetics. 17. PMID 18852205 DOI: 10.1093/Hmg/Ddn289 |
0.499 |
|
| 2008 |
McCarthy MI, Hirschhorn JN. Editorial: Genome-wide association studies: Past, present and future Human Molecular Genetics. 17. PMID 18852196 DOI: 10.1093/Hmg/Ddn298 |
0.385 |
|
| 2008 |
Gajdos ZK, Butler JL, Henderson KD, He C, Supelak PJ, Egyud M, Price A, Reich D, Clayton PE, Le Marchand L, Hunter DJ, Henderson BE, Palmert MR, Hirschhorn JN. Association studies of common variants in 10 hypogonadotropic hypogonadism genes with age at menarche. The Journal of Clinical Endocrinology and Metabolism. 93: 4290-8. PMID 18728166 DOI: 10.1210/Jc.2008-0981 |
0.819 |
|
| 2008 |
Orho-Melander M, Melander O, Guiducci C, Perez-Martinez P, Corella D, Roos C, Tewhey R, Rieder MJ, Hall J, Abecasis G, Tai ES, Welch C, Arnett DK, Lyssenko V, Lindholm E, ... ... Hirschhorn JN, et al. Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations. Diabetes. 57: 3112-21. PMID 18678614 DOI: 10.2337/Db08-0516 |
0.431 |
|
| 2008 |
Lettre G, Sankaran VG, Bezerra MA, Araújo AS, Uda M, Sanna S, Cao A, Schlessinger D, Costa FF, Hirschhorn JN, Orkin SH. DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proceedings of the National Academy of Sciences of the United States of America. 105: 11869-74. PMID 18667698 DOI: 10.1073/Pnas.0804799105 |
0.391 |
|
| 2008 |
McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, Ioannidis JPA, Hirschhorn JN. Genome-wide association studies for complex traits: Consensus, uncertainty and challenges Nature Reviews Genetics. 9: 356-369. PMID 18398418 DOI: 10.1038/Nrg2344 |
0.447 |
|
| 2008 |
Lettre G, Jackson AU, Gieger C, Schumacher FR, Berndt SI, Sanna S, Eyheramendy S, Voight BF, Butler JL, Guiducci C, Illig T, Hackett R, Heid IM, Jacobs KB, Lyssenko V, ... ... Hirschhorn JN, et al. Identification of ten loci associated with height highlights new biological pathways in human growth. Nature Genetics. 40: 584-91. PMID 18391950 DOI: 10.1038/Ng.125 |
0.513 |
|
| 2008 |
Lasky-Su J, Lyon HN, Emilsson V, Heid IM, Molony C, Raby BA, Lazarus R, Klanderman B, Soto-Quiros ME, Avila L, Silverman EK, Thorleifsson G, Thorsteinsdottir U, Kronenberg F, Vollmert C, ... ... Hirschhorn J, et al. On the replication of genetic associations: timing can be everything! American Journal of Human Genetics. 82: 849-58. PMID 18387595 DOI: 10.1016/J.Ajhg.2008.01.018 |
0.439 |
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| 2008 |
Kathiresan S, Melander O, Anevski D, Guiducci C, Burtt NP, Roos C, Hirschhorn JN, Berglund G, Hedblad B, Groop L, Altshuler DM, Newton-Cheh C, Orho-Melander M. Polymorphisms associated with cholesterol and risk of cardiovascular events. The New England Journal of Medicine. 358: 1240-9. PMID 18354102 DOI: 10.1056/Nejmoa0706728 |
0.309 |
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| 2008 |
Campbell CD, Kirby A, Nemesh J, Daly MJ, Hirschhorn JN. A survey of allelic imbalance in F1 mice. Genome Research. 18: 555-63. PMID 18256236 DOI: 10.1101/Gr.068692.107 |
0.339 |
|
| 2008 |
Uda M, Galanello R, Sanna S, Lettre G, Sankaran VG, Chen W, Usala G, Busonero F, Maschio A, Albai G, Piras MG, Sestu N, Lai S, Dei M, Mulas A, ... ... Hirschhorn JN, et al. Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. Proceedings of the National Academy of Sciences of the United States of America. 105: 1620-5. PMID 18245381 DOI: 10.1073/Pnas.0711566105 |
0.422 |
|
| 2008 |
Price AL, Butler J, Patterson N, Capelli C, Pascali VL, Scarnicci F, Ruiz-Linares A, Groop L, Saetta AA, Korkolopoulou P, Seligsohn U, Waliszewska A, Schirmer C, Ardlie K, Ramos A, ... ... Hirschhorn JN, et al. Discerning the ancestry of European Americans in genetic association studies. Plos Genetics. 4: e236. PMID 18208327 DOI: 10.1371/Journal.Pgen.0030236 |
0.43 |
|
| 2008 |
Sanna S, Jackson AU, Nagaraja R, Willer CJ, Chen WM, Bonnycastle LL, Shen H, Timpson N, Lettre G, Usala G, Chines PS, Stringham HM, Scott LJ, Dei M, Lai S, ... ... Hirschhorn JN, et al. Common variants in the GDF5-UQCC region are associated with variation in human height. Nature Genetics. 40: 198-203. PMID 18193045 DOI: 10.1038/Ng.74 |
0.528 |
|
| 2008 |
McAteer JB, Prudente S, Bacci S, Lyon HN, Hirschhorn JN, Trischitta V, Florez JC. The ENPP1 K121Q polymorphism is associated with type 2 diabetes in European populations: evidence from an updated meta-analysis in 42,042 subjects. Diabetes. 57: 1125-30. PMID 18071025 DOI: 10.2337/Db07-1336 |
0.36 |
|
| 2008 |
Lee J, Escher J, Shuman M, Kugathasan S, Butler J, Lettre G, Hirschhorn J, Essers J, Sandler D, Forbes P, Grand R. Growth impairment in pediatric Inflammatory Bowel Disease: Role of parental heights and genetic variants: O-0017. Inflammatory Bowel Diseases. 14. DOI: 10.1097/00054725-200812003-00017 |
0.318 |
|
| 2007 |
Montgomery RK, Krasinski SD, Hirschhorn JN, Grand RJ. Lactose and lactase - Who is lactose intolerant and why? Journal of Pediatric Gastroenterology and Nutrition. 45. PMID 18185074 DOI: 10.1097/Mpg.0B013E31812E68F6 |
0.35 |
|
| 2007 |
Setiawan VW, Schumacher FR, Haiman CA, Stram DO, Albanes D, Altshuler D, Berglund G, Buring J, Calle EE, Clavel-Chapelon F, Cox DG, Gaziano JM, Hankinson SE, Hayes RB, Henderson BE, ... Hirschhorn J, et al. CYP17 genetic variation and risk of breast and prostate cancer from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3). Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association For Cancer Research, Cosponsored by the American Society of Preventive Oncology. 16: 2237-46. PMID 18006912 DOI: 10.1158/1055-9965.Epi-07-0589 |
0.314 |
|
| 2007 |
Weedon MN, Lettre G, Freathy RM, Lindgren CM, Voight BF, Perry JR, Elliott KS, Hackett R, Guiducci C, Shields B, Zeggini E, Lango H, Lyssenko V, Timpson NJ, Burtt NP, ... ... Hirschhorn JN, et al. A common variant of HMGA2 is associated with adult and childhood height in the general population. Nature Genetics. 39: 1245-50. PMID 17767157 DOI: 10.1038/Ng2121 |
0.472 |
|
| 2007 |
Newton-Cheh C, Guo CY, Larson MG, Musone SL, Surti A, Camargo AL, Drake JA, Benjamin EJ, Levy D, D'Agostino RB, Hirschhorn JN, O'donnell CJ. Common genetic variation in KCNH2 is associated with QT interval duration: the Framingham Heart Study. Circulation. 116: 1128-36. PMID 17709632 DOI: 10.1161/Circulationaha.107.710780 |
0.351 |
|
| 2007 |
Chanock SJ, Manolio T, Boehnke M, Boerwinkle E, Hunter DJ, Thomas G, Hirschhorn JN, Abecasis G, Altshuler D, Bailey-Wilson JE, Brooks LD, Cardon LR, Daly M, Donnelly P, et al. Replicating genotype-phenotype associations. Nature. 447: 655-60. PMID 17554299 DOI: 10.1038/447655A |
0.617 |
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| 2007 |
Lettre G, Butler JL, Ardlie KG, Hirschhorn JN. Common genetic variation in eight genes of the GH/IGF1 axis does not contribute to adult height variation Human Genetics. 122: 129-139. PMID 17546465 DOI: 10.1007/S00439-007-0385-4 |
0.436 |
|
| 2007 |
Lyon HN, Emilsson V, Hinney A, Heid IM, Lasky-Su J, Zhu X, Thorleifsson G, Gunnarsdottir S, Walters GB, Thorsteinsdottir U, Kong A, Gulcher J, Nguyen TT, Scherag A, Pfeufer A, ... ... Hirschhorn JN, et al. The association of a SNP upstream of INSIG2 with body mass index is reproduced in several but not all cohorts. Plos Genetics. 3: e61. PMID 17465681 DOI: 10.1371/Journal.Pgen.0030061 |
0.442 |
|
| 2007 |
Saxena R, Voight BF, Lyssenko V, Burtt NP, de Bakker PI, Chen H, Roix JJ, Kathiresan S, Hirschhorn JN, Daly MJ, Hughes TE, Groop L, Altshuler D, Almgren P, et al. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science (New York, N.Y.). 316: 1331-6. PMID 17463246 DOI: 10.1126/Science.1142358 |
0.459 |
|
| 2007 |
Florez JC, Sjögren M, Agapakis CM, Burtt NP, Almgren P, Lindblad U, Berglund G, Tuomi T, Gaudet D, Daly MJ, Ardlie KG, Hirschhorn JN, Altshuler D, Groop L. Association testing of common variants in the insulin receptor substrate-1 gene (IRS1) with type 2 diabetes. Diabetologia. 50: 1209-17. PMID 17443311 DOI: 10.1007/S00125-007-0657-5 |
0.34 |
|
| 2007 |
Mitchell GF, Guo CY, Kathiresan S, Vasan RS, Larson MG, Vita JA, Keyes MJ, Vyas M, Newton-Cheh C, Musone SL, Camargo AL, Drake JA, Levy D, O'Donnell CJ, Hirschhorn JN, et al. Vascular stiffness and genetic variation at the endothelial nitric oxide synthase locus: the Framingham Heart study. Hypertension. 49: 1285-90. PMID 17404185 DOI: 10.1161/Hypertensionaha.106.085266 |
0.345 |
|
| 2007 |
Lettre G, Lange C, Hirschhorn JN. Genetic model testing and statistical power in population-based association studies of quantitative traits Genetic Epidemiology. 31: 358-362. PMID 17352422 DOI: 10.1002/Gepi.20217 |
0.418 |
|
| 2007 |
Winckler W, Weedon MN, Graham RR, McCarroll SA, Purcell S, Almgren P, Tuomi T, Gaudet D, Boström KB, Walker M, Hitman G, Hattersley AT, McCarthy MI, Ardlie KG, Hirschhorn JN, et al. Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes. Diabetes. 56: 685-93. PMID 17327436 DOI: 10.2337/Db06-0202 |
0.405 |
|
| 2007 |
Gallagher CJ, Keene KL, Mychaleckyj JC, Langefeld CD, Hirschhorn JN, Henderson BE, Gordon CJ, Freedman BI, Rich SS, Bowden DW, Sale MM. Investigation of the estrogen receptor-alpha gene with type 2 diabetes and/or nephropathy in African-American and European-American populations. Diabetes. 56: 675-84. PMID 17327435 DOI: 10.2337/Db06-0303 |
0.361 |
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| 2007 |
Campbell CD, Lyon HN, Nemesh J, Drake JA, Tuomi T, Gaudet D, Zhu X, Cooper RS, Ardlie KG, Groop LC, Hirschhorn JN. Association studies of BMI and type 2 diabetes in the neuropeptide Y pathway: a possible role for NPY2R as a candidate gene for type 2 diabetes in men. Diabetes. 56: 1460-7. PMID 17325259 DOI: 10.2337/Db06-1051 |
0.385 |
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| 2007 |
Haiman CA, Dossus L, Setiawan VW, Stram DO, Dunning AM, Thomas G, Thun MJ, Albanes D, Altshuler D, Ardanaz E, Boeing H, Buring J, Burtt N, Calle EE, Chanock S, ... ... Hirschhorn JN, et al. Genetic variation at the CYP19A1 locus predicts circulating estrogen levels but not breast cancer risk in postmenopausal women. Cancer Research. 67: 1893-7. PMID 17325027 DOI: 10.1158/0008-5472.Can-06-4123 |
0.368 |
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| 2007 |
Newton-Cheh C, Guo CY, Gona P, Larson MG, Benjamin EJ, Wang TJ, Kathiresan S, O'Donnell CJ, Musone SL, Camargo AL, Drake JA, Levy D, Hirschhorn JN, Vasan RS. Clinical and genetic correlates of aldosterone-to-renin ratio and relations to blood pressure in a community sample. Hypertension. 49: 846-56. PMID 17296870 DOI: 10.1161/01.Hyp.0000258554.87444.91 |
0.342 |
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| 2007 |
Herbert A, Gerry NP, McQueen MB, Heid IM, Pfeufer A, Illig T, Wichmann H, Meitinger T, Hunter D, Hu FB, Colditz G, Hinney A, Hebebrand J, Koberwitz K, Zhu X, ... ... Hirschhorn JN, et al. Response to Comments on "A Common Genetic Variant Is Associated with Adult and Childhood Obesity" Science. 315: 187e-187e. DOI: 10.1126/Science.1129763 |
0.42 |
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| 2006 |
Setiawan VW, Cheng I, Stram DO, Giorgi E, Pike MC, Van Den Berg D, Pooler L, Burtt NP, Le Marchand L, Altshuler D, Hirschhorn J, Henderson BE, Haiman CA. A systematic assessment of common genetic variation in CYP11A and risk of breast cancer. Cancer Research. 66: 12019-25. PMID 17178901 DOI: 10.1158/0008-5472.Can-06-1101 |
0.377 |
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| 2006 |
Florez JC, Saxena R, Winckler W, Burtt NP, Almgren P, Bengtsson Boström K, Tuomi T, Gaudet D, Ardlie KG, Daly MJ, Altshuler D, Hirschhorn JN, Groop L. The Krüppel-like factor 11 (KLF11) Q62R polymorphism is not associated with type 2 diabetes in 8,676 people. Diabetes. 55: 3620-4. PMID 17130512 DOI: 10.2337/Db06-0867 |
0.357 |
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| 2006 |
Lyon HN, Florez JC, Bersaglieri T, Saxena R, Winckler W, Almgren P, Lindblad U, Tuomi T, Gaudet D, Zhu X, Cooper R, Ardlie KG, Daly MJ, Altshuler D, Groop L, ... Hirschhorn JN, et al. Common variants in the ENPP1 gene are not reproducibly associated with diabetes or obesity. Diabetes. 55: 3180-4. PMID 17065359 DOI: 10.2337/Db06-0407 |
0.382 |
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| 2006 |
de Bakker PI, Burtt NP, Graham RR, Guiducci C, Yelensky R, Drake JA, Bersaglieri T, Penney KL, Butler J, Young S, Onofrio RC, Lyon HN, Stram DO, Haiman CA, Freedman ML, ... ... Hirschhorn JN, et al. Transferability of tag SNPs in genetic association studies in multiple populations. Nature Genetics. 38: 1298-303. PMID 17057720 DOI: 10.1038/Ng1899 |
0.365 |
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| 2006 |
Cheng I, Penney KL, Stram DO, Le Marchand L, Giorgi E, Haiman CA, Kolonel LN, Pike M, Hirschhorn J, Henderson BE, Freedman ML. Haplotype-based association studies of IGFBP1 and IGFBP3 with prostate and breast cancer risk: the multiethnic cohort. Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association For Cancer Research, Cosponsored by the American Society of Preventive Oncology. 15: 1993-7. PMID 17035411 DOI: 10.1158/1055-9965.Epi-06-0361 |
0.349 |
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| 2006 |
Saxena R, Gianniny L, Burtt NP, Lyssenko V, Giuducci C, Sjögren M, Florez JC, Almgren P, Isomaa B, Orho-Melander M, Lindblad U, Daly MJ, Tuomi T, Hirschhorn JN, Ardlie KG, et al. Common single nucleotide polymorphisms in TCF7L2 are reproducibly associated with type 2 diabetes and reduce the insulin response to glucose in nondiabetic individuals. Diabetes. 55: 2890-5. PMID 17003358 DOI: 10.2337/Db06-0381 |
0.342 |
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| 2006 |
Banerjee I, Trueman JA, Hall CM, Price DA, Patel L, Whatmore AJ, Hirschhorn JN, Read AP, Palmert MR, Clayton PE. Phenotypic variation in constitutional delay of growth and puberty: relationship to specific leptin and leptin receptor gene polymorphisms. European Journal of Endocrinology / European Federation of Endocrine Societies. 155: 121-6. PMID 16793957 DOI: 10.1530/Eje.1.02184 |
0.366 |
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| 2006 |
Saxena R, de Bakker PI, Singer K, Mootha V, Burtt N, Hirschhorn JN, Gaudet D, Isomaa B, Daly MJ, Groop L, Ardlie KG, Altshuler D. Comprehensive association testing of common mitochondrial DNA variation in metabolic disease. American Journal of Human Genetics. 79: 54-61. PMID 16773565 DOI: 10.1086/504926 |
0.394 |
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| 2006 |
Morita H, Larson MG, Barr SC, Vasan RS, O'Donnell CJ, Hirschhorn JN, Levy D, Corey D, Seidman CE, Seidman JG, Benjamin EJ. Single-gene mutations and increased left ventricular wall thickness in the community: The Framingham Heart Study Circulation. 113: 2697-2705. PMID 16754800 DOI: 10.1161/Circulationaha.105.593558 |
0.304 |
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| 2006 |
Levy D, DePalma SR, Benjamin EJ, O'Donnell CJ, Parise H, Hirschhorn JN, Vasan RS, Izumo S, Larson MG. Phenotype-genotype association grid: A convenient method for summarizing multiple association analyses Bmc Genetics. 7. PMID 16716207 DOI: 10.1186/1471-2156-7-30 |
0.475 |
|
| 2006 |
Arking DE, Pfeufer A, Post W, Kao WH, Newton-Cheh C, Ikeda M, West K, Kashuk C, Akyol M, Perz S, Jalilzadeh S, Illig T, Gieger C, Guo CY, Larson MG, ... ... Hirschhorn JN, et al. A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization. Nature Genetics. 38: 644-51. PMID 16648850 DOI: 10.1038/Ng1790 |
0.429 |
|
| 2006 |
Kathiresan S, Yang Q, Larson MG, Camargo AL, Tofler GH, Hirschhorn JN, Gabriel SB, O'Donnell CJ. Common genetic variation in five thrombosis genes and relations to plasma hemostatic protein level and cardiovascular disease risk Arteriosclerosis, Thrombosis, and Vascular Biology. 26: 1405-1412. PMID 16614319 DOI: 10.1161/01.Atv.0000222011.13026.25 |
0.43 |
|
| 2006 |
Herbert A, Gerry NP, McQueen MB, Heid IM, Pfeufer A, Illig T, Wichmann HE, Meitinger T, Hunter D, Hu FB, Colditz G, Hinney A, Hebebrand J, Koberwitz K, Zhu X, ... ... Hirschhorn JN, et al. A common genetic variant is associated with adult and childhood obesity. Science (New York, N.Y.). 312: 279-83. PMID 16614226 DOI: 10.1126/Science.1124779 |
0.417 |
|
| 2006 |
Kathiresan S, Larson MG, Vasan RS, Guo CY, Gona P, Keaney JF, Wilson PW, Newton-Cheh C, Musone SL, Camargo AL, Drake JA, Levy D, O'Donnell CJ, Hirschhorn JN, Benjamin EJ. Contribution of clinical correlates and 13 C-reactive protein gene polymorphisms to interindividual variability in serum C-reactive protein level. Circulation. 113: 1415-23. PMID 16534007 DOI: 10.1161/Circulationaha.105.591271 |
0.302 |
|
| 2006 |
Sun MW, Lee JY, de Bakker PI, Burtt NP, Almgren P, RÃ¥stam L, Tuomi T, Gaudet D, Daly MJ, Hirschhorn JN, Altshuler D, Groop L, Florez JC. Haplotype structures and large-scale association testing of the 5' AMP-activated protein kinase genes PRKAA2, PRKAB1, and PRKAB2 [corrected] with type 2 diabetes. Diabetes. 55: 849-55. PMID 16505254 DOI: 10.2337/Diabetes.55.03.06.Db05-1418 |
0.391 |
|
| 2006 |
Feigelson HS, Cox DG, Cann HM, Wacholder S, Kaaks R, Henderson BE, Albanes D, Altshuler D, Berglund G, Berrino F, Bingham S, Buring JE, Burtt NP, Calle EE, Chanock SJ, ... ... Hirschhorn JN, et al. Haplotype analysis of the HSD17B1 gene and risk of breast cancer: a comprehensive approach to multicenter analyses of prospective cohort studies. Cancer Research. 66: 2468-75. PMID 16489054 DOI: 10.1158/0008-5472.Can-05-3574 |
0.345 |
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| 2006 |
Setiawan VW, Cheng I, Stram DO, Penney KL, Le Marchand L, Altshuler D, Kolonel LN, Hirschhorn J, Henderson BE, Freedman ML. Igf-I genetic variation and breast cancer: the multiethnic cohort. Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association For Cancer Research, Cosponsored by the American Society of Preventive Oncology. 15: 172-4. PMID 16434607 DOI: 10.1158/1055-9965.Epi-05-0625 |
0.318 |
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| 2006 |
Cheng I, Stram DO, Penney KL, Pike M, Le Marchand L, Kolonel LN, Hirschhorn J, Altshuler D, Henderson BE, Freedman ML. Common genetic variation in IGF1 and prostate cancer risk in the Multiethnic Cohort. Journal of the National Cancer Institute. 98: 123-34. PMID 16418515 DOI: 10.1093/Jnci/Djj013 |
0.306 |
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| 2006 |
Drake JA, Bird C, Nemesh J, Thomas DJ, Newton-Cheh C, Reymond A, Excoffier L, Attar H, Antonarakis SE, Dermitzakis ET, Hirschhorn JN. Conserved noncoding sequences are selectively constrained and not mutation cold spots. Nature Genetics. 38: 223-7. PMID 16380714 DOI: 10.1038/Ng1710 |
0.399 |
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| 2006 |
Florez JC, Wiltshire S, Agapakis CM, Burtt NP, de Bakker PI, Almgren P, Bengtsson Boström K, Tuomi T, Gaudet D, Daly MJ, Hirschhorn JN, McCarthy MI, Altshuler D, Groop L. High-density haplotype structure and association testing of the insulin-degrading enzyme (IDE) gene with type 2 diabetes in 4,206 people. Diabetes. 55: 128-35. PMID 16380485 DOI: 10.2337/Diabetes.55.01.06.Db05-0954 |
0.381 |
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| 2005 |
Hirschhorn JN. Genetic and genomic approaches to studying stature and pubertal timing Pediatric Endocrinology Reviews. 2: 351-354. PMID 16456504 |
0.387 |
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| 2005 |
Kraft P, Pharoah P, Chanock SJ, Albanes D, Kolonel LN, Hayes RB, Altshuler D, Andriole G, Berg C, Boeing H, Burtt NP, Bueno-de-Mesquita B, Calle EE, Cann H, Canzian F, ... ... Hirschhorn JN, et al. Genetic variation in the HSD17B1 gene and risk of prostate cancer. Plos Genetics. 1: e68. PMID 16311626 DOI: 10.1371/Journal.Pgen.0010068 |
0.301 |
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| 2005 |
Kathiresan S, Gabriel SB, Yang Q, Lochner AL, Larson MG, Levy D, Tofler GH, Hirschhorn JN, O'Donnell CJ. Comprehensive survey of common genetic variation at the plasminogen activator inhibitor-1 locus and relations to circulating plasminogen activator inhibitor-1 levels Circulation. 112: 1728-1735. PMID 16172282 DOI: 10.1161/Circulationaha.105.547836 |
0.411 |
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| 2005 |
Kathiresan S, Larson MG, Vasan RS, Guo CY, Vita JA, Mitchell GF, Keyes MJ, Newton-Cheh C, Musone SL, Lochner AL, Drake JA, Levy D, O'Donnell CJ, Hirschhorn JN, Benjamin EJ. Common genetic variation at the endothelial nitric oxide synthase locus and relations to brachial artery vasodilator function in the community. Circulation. 112: 1419-27. PMID 16129794 DOI: 10.1161/Circulationaha.105.544619 |
0.397 |
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| 2005 |
McDermott DH, Yang Q, Kathiresan S, Cupples LA, Massaro JM, Keaney JF, Larson MG, Vasan RS, Hirschhorn JN, O'Donnell CJ, Murphy PM, Benjamin EJ. CCL2 polymorphisms are associated with serum monocyte chemoattractant protein-1 levels and myocardial infarction in the Framingham Heart Study Circulation. 112: 1113-1120. PMID 16116069 DOI: 10.1161/Circulationaha.105.543579 |
0.395 |
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| 2005 |
Winckler W, Burtt NP, Holmkvist J, Cervin C, de Bakker PI, Sun M, Almgren P, Tuomi T, Gaudet D, Hudson TJ, Ardlie KG, Daly MJ, Hirschhorn JN, Altshuler D, Groop L. Association of common variation in the HNF1alpha gene region with risk of type 2 diabetes. Diabetes. 54: 2336-42. PMID 16046299 DOI: 10.2337/Diabetes.54.8.2336 |
0.398 |
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| 2005 |
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 Genetics. 37: 868-72. PMID 16041375 DOI: 10.1038/Ng1607 |
0.434 |
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| 2005 |
Lyon HN, Hirschhorn JN. Genetics of common forms of obesity: a brief overview The American Journal of Clinical Nutrition. 82. PMID 16002823 DOI: 10.1093/Ajcn/82.1.215S |
0.354 |
|
| 2005 |
Florez JC, Agapakis CM, Burtt NP, Sun M, Almgren P, RÃ¥stam L, Tuomi T, Gaudet D, Hudson TJ, Daly MJ, Ardlie KG, Hirschhorn JN, Groop L, Altshuler D. Association testing of the protein tyrosine phosphatase 1B gene (PTPN1) with type 2 diabetes in 7,883 people. Diabetes. 54: 1884-91. PMID 15919813 DOI: 10.2337/Diabetes.54.6.1884 |
0.335 |
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| 2005 |
Newton-Cheh C, Hirschhorn JN. Genetic association studies of complex traits: Design and analysis issues Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis. 573: 54-69. PMID 15829237 DOI: 10.1016/J.Mrfmmm.2005.01.006 |
0.487 |
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| 2005 |
Hirschhorn JN. Genetic approaches to studying common diseases and complex traits Pediatric Research. 57. PMID 15817501 DOI: 10.1203/01.Pdr.0000159574.98964.87 |
0.484 |
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| 2005 |
Winckler W, Graham RR, de Bakker PI, Sun M, Almgren P, Tuomi T, Gaudet D, Hudson TJ, Ardlie KG, Daly MJ, Hirschhorn JN, Groop L, Altshuler D. Association testing of variants in the hepatocyte nuclear factor 4alpha gene with risk of type 2 diabetes in 7,883 people. Diabetes. 54: 886-92. PMID 15734869 DOI: 10.2337/Diabetes.54.3.886 |
0.408 |
|
| 2005 |
Hirschhorn JN, Daly MJ. Genome-wide association studies for common diseases and complex traits Nature Reviews Genetics. 6: 95-108. PMID 15716906 DOI: 10.1038/Nrg1521 |
0.469 |
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| 2005 |
Pearce CL, Hirschhorn JN, Wu AH, Burtt NP, Stram DO, Young S, Kolonel LN, Henderson BE, Altshuler D, Pike MC. Clarifying the PROGINS allele association in ovarian and breast cancer risk: a haplotype-based analysis. Journal of the National Cancer Institute. 97: 51-9. PMID 15632380 DOI: 10.1093/Jnci/Dji007 |
0.313 |
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| 2005 |
Freedman ML, Pearce CL, Penney KL, Hirschhorn JN, Kolonel LN, Henderson BE, Altshuler D. Systematic evaluation of genetic variation at the androgen receptor locus and risk of prostate cancer in a multiethnic cohort study. American Journal of Human Genetics. 76: 82-90. PMID 15570555 DOI: 10.1086/427224 |
0.411 |
|
| 2005 |
Sedlmeyer IL, Pearce CL, Trueman JA, Butler JL, Bersaglieri T, Read AP, Clayton PE, Kolonel LN, Henderson BE, Hirschhorn JN, Palmert MR. Determination of sequence variation and haplotype structure for the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes: investigation of role in pubertal timing. The Journal of Clinical Endocrinology and Metabolism. 90: 1091-9. PMID 15546906 DOI: 10.1210/Jc.2004-0649 |
0.466 |
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| 2004 |
Goldstein DB, Hirschhorn JN. In genetic control of disease, does 'race' matter? Nature Genetics. 36: 1243-1244. PMID 15565101 DOI: 10.1038/Ng1204-1243 |
0.435 |
|
| 2004 |
Florez JC, Sjögren M, Burtt N, Orho-Melander M, Schayer S, Sun M, Almgren P, Lindblad U, Tuomi T, Gaudet D, Hudson TJ, Daly MJ, Ardlie KG, Hirschhorn JN, Altshuler D, et al. Association testing in 9,000 people fails to confirm the association of the insulin receptor substrate-1 G972R polymorphism with type 2 diabetes. Diabetes. 53: 3313-8. PMID 15561965 DOI: 10.2337/Diabetes.53.12.3313 |
0.356 |
|
| 2004 |
Freedman ML, Penney KL, Stram DO, Le Marchand L, Hirschhorn JN, Kolonel LN, Altshuler D, Henderson BE, Haiman CA. Common variation in BRCA2 and breast cancer risk: a haplotype-based analysis in the Multiethnic Cohort. Human Molecular Genetics. 13: 2431-41. PMID 15317758 DOI: 10.1093/Hmg/Ddh270 |
0.345 |
|
| 2004 |
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. American Journal of Human Genetics. 74: 1111-20. PMID 15114531 DOI: 10.1086/421051 |
0.391 |
|
| 2004 |
Florez JC, Burtt N, de Bakker PI, Almgren P, Tuomi T, Holmkvist J, Gaudet D, Hudson TJ, Schaffner SF, Daly MJ, Hirschhorn JN, Groop L, Altshuler D. Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region. Diabetes. 53: 1360-8. PMID 15111507 DOI: 10.2337/Diabetes.53.5.1360 |
0.401 |
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| 2004 |
Freedman ML, Reich D, Penney KL, McDonald GJ, Mignault AA, Patterson N, Gabriel SB, Topol EJ, Smoller JW, Pato CN, Pato MT, Petryshen TL, Kolonel LN, Lander ES, Sklar P, ... ... Hirschhorn JN, et al. Assessing the impact of population stratification on genetic association studies. Nature Genetics. 36: 388-93. PMID 15052270 DOI: 10.1038/Ng1333 |
0.432 |
|
| 2004 |
Florez JC, Burtt N, de Bakker PW, Almgren P, Tuomi T, Holmkvist J, Gaudet D, Hudson TJ, Schaffner SF, Daly MJ, Hirschhorn JN, Groop L, Altshuler D. 42 HAPLOTYPE STRUCTURE AND ASSOCIATION OF COMMON VARIANTS IN THE GENE ENCODING THE ISLET ATP-SENSITIVE POTASSIUM CHANNEL WITH TYPE 2 DIABETES. Journal of Investigative Medicine. 52: S384.2-S384. DOI: 10.1136/Jim-52-Suppl2-116 |
0.314 |
|
| 2004 |
Nathan BM, Hirschhorn JN, Palmert MR. Strategies for studying complex genetic traits Endocrinologist. 14: 346-352. DOI: 10.1097/01.Ten.0000146242.75018.A9 |
0.37 |
|
| 2003 |
Hirschhorn JN. Genetic epidemiology of type 1 diabetes Pediatric Diabetes. 4: 87-100. PMID 14655265 DOI: 10.1034/J.1399-5448.2001.00013.X |
0.379 |
|
| 2003 |
Palmert MR, Hirschhorn JN. Genetic approaches to stature, pubertal timing, and other complex traits. Molecular Genetics and Metabolism. 80: 1-10. PMID 14567953 DOI: 10.1016/S1096-7192(03)00107-0 |
0.458 |
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| 2003 |
Stram DO, Leigh Pearce C, Bretsky P, Freedman M, Hirschhorn JN, Altshuler D, Kolonel LN, Henderson BE, Thomas DC. Modeling and E-M estimation of haplotype-specific relative risks from genotype data for a case-control study of unrelated individuals. Human Heredity. 55: 179-90. PMID 14566096 DOI: 10.1159/000073202 |
0.351 |
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| 2003 |
Florez JC, Hirschhorn J, Altshuler D. The inherited basis of diabetes mellitus: implications for the genetic analysis of complex traits. Annual Review of Genomics and Human Genetics. 4: 257-91. PMID 14527304 DOI: 10.1146/Annurev.Genom.4.070802.110436 |
0.377 |
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| 2003 |
Haiman CA, Stram DO, Pike MC, Kolonel LN, Burtt NP, Altshuler D, Hirschhorn J, Henderson BE. A comprehensive haplotype analysis of CYP19 and breast cancer risk: the Multiethnic Cohort. Human Molecular Genetics. 12: 2679-92. PMID 12944421 DOI: 10.1093/Hmg/Ddg294 |
0.383 |
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| 2003 |
Stram DO, Haiman CA, Hirschhorn JN, Altshuler D, Kolonel LN, Henderson BE, Pike MC. Choosing haplotype-tagging SNPS based on unphased genotype data using a preliminary sample of unrelated subjects with an example from the Multiethnic Cohort Study. Human Heredity. 55: 27-36. PMID 12890923 DOI: 10.1159/000071807 |
0.403 |
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| 2003 |
Mootha VK, Lindgren CM, Eriksson KF, Subramanian A, Sihag S, Lehar J, Puigserver P, Carlsson E, Ridderstråle M, Laurila E, Houstis N, Daly MJ, Patterson N, Mesirov JP, Golub TR, ... ... Hirschhorn JN, et al. PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nature Genetics. 34: 267-73. PMID 12808457 DOI: 10.1038/Ng1180 |
0.333 |
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| 2003 |
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 Genetics. 33: 177-82. PMID 12524541 DOI: 10.1038/Ng1071 |
0.48 |
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| 2002 |
Cowles CR, Hirschhorn JN, Altshuler D, Lander ES. Detection of regulatory variation in mouse genes. Nature Genetics. 32: 432-7. PMID 12410233 DOI: 10.1038/Ng992 |
0.391 |
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| 2002 |
Hirschhorn JN, Altshuler D. Once and again-issues surrounding replication in genetic association studies. The Journal of Clinical Endocrinology and Metabolism. 87: 4438-41. PMID 12364414 DOI: 10.1210/Jc.2002-021329 |
0.438 |
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| 2002 |
Engert JC, Vohl MC, Williams SM, Lepage P, Loredo-Osti JC, Faith J, Doré C, Renaud Y, Burtt NP, Villeneuve A, Hirschhorn JN, Altshuler D, Groop LC, Després JP, Gaudet D, et al. 5' flanking variants of resistin are associated with obesity. Diabetes. 51: 1629-34. PMID 11978666 DOI: 10.2337/Diabetes.51.5.1629 |
0.415 |
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| 2002 |
Hirschhorn JN, Lohmueller K, Byrne E, Hirschhorn K. A comprehensive review of genetic association studies. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 4: 45-61. PMID 11882781 DOI: 10.1097/00125817-200203000-00002 |
0.484 |
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| 2001 |
Hirschhorn JN, Lindgren CM, Daly MJ, Kirby A, Schaffner SF, Burtt NP, Altshuler D, Parker A, Rioux JD, Platko J, Gaudet D, Hudson TJ, Groop LC, Lander ES. Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height. American Journal of Human Genetics. 69: 106-16. PMID 11410839 DOI: 10.1086/321287 |
0.391 |
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| 2001 |
Lindgren CM, Hirschhorn JN. The genetics of type 2 diabetes Endocrinologist. 11: 178-187. DOI: 10.1097/00019616-200105000-00004 |
0.39 |
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| 2000 |
Hirschhorn JN, Sklar P, Lindblad-Toh K, Lim YM, Ruiz-Gutierrez M, Bolk S, Langhorst B, Schaffner S, Winchester E, Lander ES. SBE-TAGS: an array-based method for efficient single-nucleotide polymorphism genotyping. Proceedings of the National Academy of Sciences of the United States of America. 97: 12164-9. PMID 11035790 DOI: 10.1073/Pnas.210394597 |
0.363 |
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| 2000 |
Altshuler D, Hirschhorn JN, Klannemark M, Lindgren CM, Vohl MC, Nemesh J, Lane CR, Schaffner SF, Bolk S, Brewer C, Tuomi T, Gaudet D, Hudson TJ, Daly M, Groop L, et al. The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nature Genetics. 26: 76-80. PMID 10973253 DOI: 10.1038/79216 |
0.375 |
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| 2000 |
Lindblad-Toh K, Winchester E, Daly MJ, Wang DG, Hirschhorn JN, Laviolette JP, Ardlie K, Reich DE, Robinson E, Sklar P, Shah N, Thomas D, Fan JB, Gingeras T, Warrington J, et al. Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse. Nature Genetics. 24: 381-6. PMID 10742102 DOI: 10.1038/74215 |
0.407 |
|
| 1999 |
Sklar P, Altshuler D, Cargill M, Hirschhorn JN. DNA microarrays for polymorphism detection and genotyping: Utility in the understanding of complex neuropsychiatric diseases Cns Spectrums. 4: 59-74. DOI: 10.1017/S1092852900011743 |
0.387 |
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