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2014
A Novel Test for Recessive Contributions to Complex Diseases Implicates Bardet-Biedl Syndrome Gene BBS10 in Idiopathic Type 2 Diabetes and Obesity.Lim, ET, Liu YP, Chan Y., Tiinamaija T., Käräjämäki A., Madsen E., Go-T2D Consortium, Altshuler DM, Raychaudhuri S., Groop L., Flannick J., Hirschhorn JN, Katsanis N., and Daly M. J. American journal of human genetics, 2014/11/06, Volume 95, Issue 5, p.509-20, (2014) Read More / View Supplemental Materials
Abstract
SNPsnap: a web-based tool for identification and annotation of matched SNPs.Pers, TH, Timshel P., and Hirschhorn JN Bioinformatics (Oxford, England), 2014/10/13, (2014) Read More / View Supplemental Materials
Abstract
Defining the role of common variation in the genomic and biological architecture of adult human height.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., Fall T., Fehrmann R., Ferreira T., Jackson AU, Karjalainen J., et al. Nature genetics, 2014/10/05, (2014) Read More / View Supplemental Materials
Abstract
A novel common variant in DCST2 is associated with length in early life and height in adulthood.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., Joro R., Kerkhof M., Warrington NM, Pitkänen N., Ntalla I., et al. Human molecular genetics, 2014/10/03, (2014) Read More / View Supplemental Materials
Abstract
Genome-wide association analyses identify variants in developmental genes associated with hypospadias.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., Baskin LS, Nordenskjöld A., van der Zanden LF, and Melbye M. Nature genetics, 2014/08/10, (2014) Read More / View Supplemental Materials
Abstract
Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population.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., Manning A., Ladenvall C., Bumpstead S., Hämäläinen E., Aalto K., et al. PLoS genetics, 2014/07/01, Volume 10, Issue 7, p.e1004494, (2014) Read More / View Supplemental Materials
Abstract
Novel Approach Identifies SNPs in SLC2A10 and KCNK9 with Evidence for Parent-of-Origin Effect on Body Mass Index.Hoggart, CJ, Venturini G., Mangino M., Gomez F., Ascari G., Zhao JH, Teumer A., Winkler TW, Tšernikova N., Luan J., Mihailov E., Ehret GB, Zhang W., Lamparter D., Esko T., Macé A., Rüeger S., Bochud PY, Barcella M., Dauvilliers Y., et al. PLoS genetics, 2014/07/01, Volume 10, Issue 7, p.e1004508, (2014) Read More / View Supplemental Materials
Abstract
Simulation of finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland.Wang, SR, Agarwala V., Flannick J., Chiang CW, Altshuler D., GoT2D Consortium, and Hirschhorn JN American journal of human genetics, 2014/05/01, Volume 94, Issue 5, p.710-20, (2014) Read More / View Supplemental Materials
Abstract
Guidelines for investigating causality of sequence variants in human disease.Macarthur, DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J., Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly M. J., Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, et al. Nature, 2014/04/24, Volume 508, Issue 7497, p.469-76, (2014) Read More / View Supplemental Materials
Abstract
Central Precocious Puberty that appears to be sporadic caused by Paternally inherited mutations in the imprinted GENE makorin ring finger 3.Macedo, DB, Abreu AP, Reis AC, Montenegro LR, Dauber A., Beneduzzi D., Cukier P., Silveira LF, Teles MG, Carroll RS, Guerra Junior G., Guaragna Filho G., Gucev Z., Arnhold IJ, de Castro M., Moreira AC, Martinelli CE Jr, Hirschhorn JN, Mendonca BB, Brito VN, et al. The Journal of clinical endocrinology and metabolism, 2014/03/14, p.jc20133126, (2014) Read More / View Supplemental Materials
Abstract
2013 Victor A. McKusick Leadership Award Introduction: Kurt and Rochelle Hirschhorn.Hirschhorn, JN American journal of human genetics, 2014/03/06, Volume 94, Issue 3, p.334-5, (2014) Read More / View Supplemental Materials
An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases.Chan, Y., Lim ET, Sandholm N., Wang SR, McKnight AJ, Ripke S., DIAGRAM Consortium, GENIE Consortium, GIANT Consortium, IIBDGC Consortium, PGC Consortium, Daly M. J., Neale BM, Salem RM, and Hirschhorn JN American journal of human genetics, 2014/03/06, Volume 94, Issue 3, p.437-52, (2014) Read More / View Supplemental Materials
Abstract
2013
A Novel Deletion of IGF1 in a Patient With Idiopathic Short Stature Provides Insight Into IGF1 Haploinsufficiency.Batey, L., Moon JE, Yu Y., Wu B., Hirschhorn JN, Shen Y., and Dauber A. The Journal of clinical endocrinology and metabolism, 2013/11/15, (2013) Read More / View Supplemental Materials
Abstract
SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant.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, Jacquemont S., and Katsanis N. American journal of human genetics, 2013/11/07, Volume 93, Issue 5, p.798-811, (2013) Read More / View Supplemental Materials
Abstract
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes.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., Brosnan MJ, Trimmer JK, Newton-Cheh C., Tuomi T., Molven A., et al. Nature genetics, 2013/11/01, Volume 45, Issue 11, p.1380-5, (2013) Read More / View Supplemental Materials
Abstract
Common variants associated with plasma triglycerides and risk for coronary artery disease.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, Demirkan A., Den Hertog HM, Donnelly LA, Ehret GB, Esko T., et al. Nature genetics, 2013/11/01, Volume 45, Issue 11, p.1345-52, (2013) Read More / View Supplemental Materials
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Central Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3.Abreu, AP, Dauber A., Macedo DB, Noel SD, Brito VN, Gill JC, Cukier P., Thompson IR, Navarro VM, Gagliardi PC, Rodrigues T., Kochi C., Longui CA, Beckers D., de Zegher F., Montenegro LR, Mendonca BB, Carroll RS, Hirschhorn JN, Latronico AC, et al. The New England journal of medicine, 2013/06/27, Volume 368, Issue 26, p.2467-2475, (2013) Read More / View Supplemental Materials
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Improved ancestry inference using weights from external reference panels.Chen, CY, Pollack S., Hunter DJ, Hirschhorn JN, Kraft P., and Price AL Bioinformatics (Oxford, England), 2013/04/30, (2013) Read More / View Supplemental Materials
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2012
Whole Exome Sequencing Reveals a Novel Mutation in CUL7 in a Patient with an Undiagnosed Growth Disorder.Dauber, A., Stoler J., Hechter E., Safer J., and Hirschhorn JN The Journal of pediatrics, 2012/09/10, (2012) Read More / View Supplemental Materials
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Burden of rare sarcomere gene variants in the framingham and jackson heart study cohorts.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 Jr, Fox ER, Newton-Cheh C., Kathiresan S., O'Donnell CJ, Wilson JG, et al. American journal of human genetics, 2012/09/07, Volume 91, Issue 3, p.513-9, (2012) Read More / View Supplemental Materials
Abstract
Novel Microcephalic Primordial Dwarfism Disorder Associated with Variants in the Centrosomal Protein Ninein.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, and Hwa V. The Journal of clinical endocrinology and metabolism, 2012/08/29, (2012) Read More / View Supplemental Materials
Abstract
Evidence of widespread selection on standing variation in Europe at height-associated SNPs.Turchin, MC, Chiang CW, Palmer CD, Sankararaman S., Reich D., Genetic Investigation of ANthropometric Traits(GIANT) Consortium, and Hirschhorn JN Nature genetics, 2012/08/19, Volume 44, Issue 9, p.1015-9, (2012) Read More / View Supplemental Materials
Abstract
The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits.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, Lindgren CM, Morris AP, Prokopenko I., Randall JC, Saxena R., et al. PLoS genetics, 2012/08/01, Volume 8, Issue 8, p.e1002793, (2012) Read More / View Supplemental Materials
Abstract
2011
Genome-wide Association of Copy-Number Variation Reveals an Association between Short Stature and the Presence of Low-Frequency Genomic Deletions.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, and Hirschhorn JN American journal of human genetics, 2011/12/09, Volume 89, Issue 6, p.751-9, (2011) Read More / View Supplemental Materials
Abstract
Genetic Defect in CYP24A1, the Vitamin D 24-Hydroxylase Gene, in a Patient with Severe Infantile Hypercalcemia.Dauber, A., Nguyen TT, Sochett E., Cole DE, Horst R., Abrams SA, Carpenter TO, and Hirschhorn JN The Journal of clinical endocrinology and metabolism, 2011/11/23, (2011) Read More / View Supplemental Materials
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2010
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.Speliotes, EK, Willer CJ, Berndt SI, Monda KL, Thorleifsson G., Jackson AU, Allen HL, Lindgren CM, Luan J., Mägi R., Randall JC, Vedantam S., Winkler TW, Qi L., Workalemahu T., Heid IM, Steinthorsdottir V., Stringham HM, Weedon MN, Wheeler E., et al. Nature genetics, 2010/11/01, Volume 42, Issue 11, p.937-48, (2010) Read More / View Supplemental Materials
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Candidate gene association resource (CARe): design, methods, and proof of concept.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, Fornage M., Fox ER, Heckbert SR, Hirschhorn JN, Newton-Cheh C., et al. Circulation. Cardiovascular genetics, 2010/06/01, Volume 3, Issue 3, p.267-75, (2010) Read More / View Supplemental Materials
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2008
DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease.Lettre, G., Sankaran VG, Bezerra MA, Araújo AS, Uda M., Sanna S., Cao A., Schlessinger D., Costa FF, Hirschhorn JN, and Orkin SH Proceedings of the National Academy of Sciences of the United States of America, 2008/08/19, Volume 105, Issue 33, p.11869-74, (2008) Read More / View Supplemental Materials
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Identification of ten loci associated with height highlights new biological pathways in human growth.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., Uda M., Diabetes Genetics Initiative, FUSION, KORA, Prostate, Lung Colorectal and Ovarian Cancer Screening Trial, et al. Nature genetics, 2008/05/01, Volume 40, Issue 5, p.584-91, (2008) Read More / View Supplemental Materials
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2007
Common genetic variation in eight genes of the GH/IGF1 axis does not contribute to adult height variation.Lettre, G., Butler JL, Ardlie KG, and Hirschhorn JN Human genetics, 2007/09/01, Volume 122, Issue 2, p.129-39, (2007) Read More / View Supplemental Materials
Abstract
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.and of Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, Novartis Institutes BioMedical Rese, Saxena R., Voight BF, Lyssenko V., Burtt NP, de Bakker PI, Chen H., Roix JJ, Kathiresan S., Hirschhorn JN, Daly M. J., Hughes TE, Groop L., Altshuler D., Almgren P., Florez JC, Meyer J., Ardlie K., Bengtsson Boström K., Isomaa B., et al. Science (New York, N.Y.), 2007/06/01, Volume 316, Issue 5829, p.1331-6, (2007) Read More / View Supplemental Materials
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Genetic model testing and statistical power in population-based association studies of quantitative traits.Lettre, G., Lange C., and Hirschhorn JN Genetic epidemiology, 2007/05/01, Volume 31, Issue 4, p.358-62, (2007) Read More / View Supplemental Materials
Abstract
Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes.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, Daly M. J., Frayling TM, Groop L., and Altshuler D. Diabetes, 2007/03/01, Volume 56, Issue 3, p.685-93, (2007) Read More / View Supplemental Materials
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2006
Transferability of tag SNPs in genetic association studies in multiple populations.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, Zhu X., Cooper R., Groop L., Kolonel LN, Henderson BE, et al. Nature genetics, 2006/11/01, Volume 38, Issue 11, p.1298-303, (2006) Read More / View Supplemental Materials
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Common single nucleotide polymorphisms in TCF7L2 are reproducibly associated with type 2 diabetes and reduce the insulin response to glucose in nondiabetic individuals.Saxena, R., Gianniny L., Burtt NP, Lyssenko V., Giuducci C., Sjögren M., Florez JC, Almgren P., Isomaa B., Orho-Melander M., Lindblad U., Daly M. J., Tuomi T., Hirschhorn JN, Ardlie KG, Groop LC, and Altshuler D. Diabetes, 2006/10/01, Volume 55, Issue 10, p.2890-5, (2006) Read More / View Supplemental Materials
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2005
Genetic association studies of complex traits: design and analysis issues.Newton-Cheh, C., and Hirschhorn JN Mutation research, 2005/06/03, Volume 573, Issue 1-2, p.54-69, (2005) Read More / View Supplemental Materials
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Genome-wide association studies for common diseases and complex traits.Hirschhorn, JN, and Daly M. J. Nature reviews. Genetics, 2005/02/01, Volume 6, Issue 2, p.95-108, (2005) Read More / View Supplemental Materials
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2004
Common variation in BRCA2 and breast cancer risk: a haplotype-based analysis in the Multiethnic Cohort.Freedman, ML, Penney KL, Stram DO, Le Marchand L., Hirschhorn JN, Kolonel LN, Altshuler D., Henderson BE, and Haiman CA Human molecular genetics, 2004/10/15, Volume 13, Issue 20, p.2431-41, (2004) Read More / View Supplemental Materials
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Assessing the impact of population stratification on genetic association studies.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 E. S., Sklar P., Henderson B., Hirschhorn JN, and Altshuler D. Nature genetics, 2004/04/01, Volume 36, Issue 4, p.388-93, (2004) Read More / View Supplemental Materials
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  • Showing 1-39 of 39 Results