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Joel Hirschhorn

Research Profile

Genes & Molecular Sequences

Physiology

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European Continental Ancestry Group

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Genetics, Population

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TOP 3
Andrew Dauber; Eliana Hechter; Jason Safer; Joan Stoler; Joel N Hirschhorn
Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder.
Andrew Dauber; Matthew P Harris; Katrin Henke; Joel N Hirschhorn; Jeffrey Baron; Garrett A Kingman; Stephen H LaFranchi; Julian C Lui; Zoltan Maliga; Cailin McDeed; Jennifer E Moon; Tune H Pers; Ron G Rosenfeld; Jonathan Zonana; Vivian Hwa
Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein.
Alexander G Bick; Susan Cheng; Steven R Depalma; Jason Flannick; Ervin R Fox; Birgit H Funke; Stacey B Gabriel; Namrata Gupta; Daniel S Herman; Joel N Hirschhorn; Kaoru Ito; Sekar Kathiresan; Christopher Newton-Cheh; Christopher J O'Donnell; Michael G Parfenov; Heidi L Rehm; Jonathan G Seidman; Herman A Taylor; Ramachandran S Vasan; James G Wilson; David Altshuler; Jayashri Aragam; Emelia J Benjamin; Christine Seidman
Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts.

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All Publications

2013: Andrew Dauber; Eliana Hechter; Jason Safer; Joan Stoler; Joel N Hirschhorn
Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder.
The Journal of pediatrics 2013;162(1):202-4.e1.
2012: Andrew Dauber; Matthew P Harris; Katrin Henke; Joel N Hirschhorn; Jeffrey Baron; Garrett A Kingman; Stephen H LaFranchi; Julian C Lui; Zoltan Maliga; Cailin McDeed; Jennifer E Moon; Tune H Pers; Ron G Rosenfeld; Jonathan Zonana; Vivian Hwa
Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein.
The Journal of clinical endocrinology and metabolism 2012;97(11):E2140-51.
2012: Alexander G Bick; Susan Cheng; Steven R Depalma; Jason Flannick; Ervin R Fox; Birgit H Funke; Stacey B Gabriel; Namrata Gupta; Daniel S Herman; Joel N Hirschhorn; Kaoru Ito; Sekar Kathiresan; Christopher Newton-Cheh; Christopher J O'Donnell; Michael G Parfenov; Heidi L Rehm; Jonathan G Seidman; Herman A Taylor; Ramachandran S Vasan; James G Wilson; David Altshuler; Jayashri Aragam; Emelia J Benjamin; Christine Seidman
Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts.
American journal of human genetics 2012;91(3):513-9.
2012: Michael C Turchin; Charleston W K Chiang; Cameron D Palmer; David Reich; Sriram Sankararaman; Joel N Hirschhorn
Evidence of widespread selection on standing variation in Europe at height-associated SNPs.
Nature genetics 2012;44(9):1015-9.
2012: Charleston W K Chiang; L Adrienne Cupples; Ellen W Demerath; Nora Franceschini; Eric Boerwinkle; Neal W Jorgensen; Brendan J Keating; Leslie A Lange; Guillaume Lettre; Ching-Ti Liu; Joanne M Murabito; Nora L Nock; Kari E North; George J Papanicolaou; Alex P Reiner; Jerome I Rotter; Sailaja Vedantam; James G Wilson; Joel N Hirschhorn
Ultraconserved elements in the human genome: association and transmission analyses of highly constrained single-nucleotide polymorphisms.
Genetics 2012;192(1):253-66.
2012: Andrew Dauber; Steven A Abrams; Thomas O Carpenter; David E C Cole; Ronald Horst; Thutrang T Nguyen; Etienne Sochett; Joel N Hirschhorn
Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia.
The Journal of clinical endocrinology and metabolism 2012;97(2):E268-74.
2011: Charleston W K Chiang; Richard S Cooper; Terrence Forrester; Zofia K Z Gajdos; Candace Guiducci; Rachel Hackett; Christopher A Haiman; Brian E Henderson; Katherine D Henderson; Joshua M Korn; Loic Le Marchand; Helen N Lyon; Colin A McKenzie; Thutrang T Nguyen; Mark R Palmert; Rainford Wilks; Xiaofeng Zhu; Johannah L Butler; Joel N Hirschhorn
The efficacy of detecting variants with small effects on the Affymetrix 6.0 platform using pooled DNA.
Human genetics 2011;130(5):607-21.
2011: Priya Moorjani; Nick Patterson; Joel N Hirschhorn; Alon Keinan; Li Hao; Gil Atzmon; Edward R Burns; Harry Ostrer; Alkes L Price; David Reich
The history of African gene flow into Southern Europeans, Levantines, and Jews.
PLoS genetics 2011;7(4):e1001373.
2011: Andrew Dauber; Joel N Hirschhorn
Genome-wide association studies in pediatric endocrinology.
Hormone research in pædiatrics 2011;75(5):322-8.
2011: Joel N Hirschhorn; Zofia K Z Gajdos
Genome-wide association studies: results from the first few years and potential implications for clinical medicine.
Annual review of medicine 2011;62():11-24.
2010: Andrew Dauber; Joel N Hirschhorn; Jonathan Picker; Thomas Maher; Aubrey Milunsky
Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome.
Pediatrics 2010;126(6):e1594-8.
2010: Vijay G Sankaran; Guillaume Lettre; Stuart H Orkin; Joel N Hirschhorn
Modifier genes in Mendelian disorders: the example of hemoglobin disorders.
Annals of the New York Academy of Sciences 2010;1214():47-56.
2010: R Gupta; K Ejebe; Javed Butler; G Lettre; H Lyon; C Guiducci; R Wilks; F Bennett; T Forrester; B Tayo; Kiran Musunuru; Joel N Hirschhorn; Sekar Kathiresan; R S Cooper; C A McKenzie
Association of common DNA sequence variants at 33 genetic loci with blood lipids in individuals of African ancestry from Jamaica.
Human genetics 2010;128(5):557-61.
2010: Elizabeth K Speliotes; Johannah L Butler; Cameron D Palmer; Benjamin F Voight; Joel N Hirschhorn
PNPLA3 variants specifically confer increased risk for histologic nonalcoholic fatty liver disease but not metabolic disease.
Hepatology (Baltimore, Md.) 2010;52(3):904-12.
2010: Zofia K Z Gajdos; Katherine D Henderson; Joel N Hirschhorn; Mark R Palmert
Genetic determinants of pubertal timing in the general population.
Molecular and cellular endocrinology 2010;324(1-2):21-9.
2010: Elizabeth K Speliotes; Joseph M Massaro; Udo Hoffmann; Ramachandran S Vasan; James B Meigs; Dushyant V Sahani; Joel N Hirschhorn; Christopher J O'Donnell; Caroline S Fox
Fatty liver is associated with dyslipidemia and dysglycemia independent of visceral fat: the Framingham Heart Study.
Hepatology (Baltimore, Md.) 2010;51(6):1979-87.
2010: Charleston W K Chiang; Zofia K Z Gajdos; Joshua M Korn; Finny G Kuruvilla; Johannah L Butler; Rachel Hackett; Candace Guiducci; Thutrang T Nguyen; Rainford Wilks; Terrence Forrester; Christopher A Haiman; Katherine D Henderson; Loic Le Marchand; Brian E Henderson; Mark R Palmert; Colin A McKenzie; Helen N Lyon; Richard S Cooper; Xiaofeng Zhu; Joel N Hirschhorn
Rapid assessment of genetic ancestry in populations of unknown origin by genome-wide genotyping of pooled samples.
PLoS genetics 2010;6(3):e1000866.
2009: Chris Cotsapas; Elizabeth K Speliotes; Ida J Hatoum; Danielle M Greenawalt; Radu Dobrin; Pek Y Lum; Christine Suver; Eugene Chudin; Daniel Kemp; Marc Reitman; Benjamin F Voight; Benjamin M Neale; Eric E Schadt; Joel N Hirschhorn; Lee M Kaplan; Mark J Daly
Common body mass index-associated variants confer risk of extreme obesity.
Human molecular genetics 2009;18(18):3502-7.
2009: Joel N Hirschhorn
Genomewide association studies--illuminating biologic pathways.
The New England journal of medicine 2009;360(17):1699-701.
2009: Joel N Hirschhorn; Guillaume Lettre
Progress in genome-wide association studies of human height.
Hormone research 2009;71 Suppl 2():5-13.
2009: Matthew R L Egyud; Zofia K Z Gajdos; Johannah L Butler; Sam Tischfield; Loic Le Marchand; Laurence N Kolonel; Christopher A Haiman; Brian E Henderson; Joel N Hirschhorn
Use of weighted reference panels based on empirical estimates of ancestry for capturing untyped variation.
Human genetics 2009;125(3):295-303.
2009: Christopher Newton-Cheh; Martin G Larson; Ramachandran S Vasan; Daniel Levy; Kenneth D Bloch; Aarti Surti; Candace Guiducci; Sekar Kathiresan; Emelia Benjamin; Joachim Struck; Nils G. Morgenthaler; Andreas Bergmann; Stefan Blankenberg; Frank Kee; Peter Nilsson; Xiaoyan Yin; Leena Peltonen; Erkki Vartiainen; Veikko Salomaa; Joel N Hirschhorn; Olle Melander; Thomas J Wang
Association of common variants in NPPA and NPPB with circulating natriuretic peptides and blood pressure.
Nature genetics 2009;41(3):348-53.
2008: Zofia K Z Gajdos; Johannah L Butler; Katherine DeLellis Henderson; Chunyan He; Pamela J Supelak; Matthew Egyud; Alkes Price; David Reich; Peter E Clayton; Loic Le Marchand; David J Hunter; Brian Henderson; Mark R Palmert; Joel N Hirschhorn
Association studies of common variants in 10 hypogonadotropic hypogonadism genes with age at menarche.
The Journal of clinical endocrinology and metabolism 2008;93(11):4290-8.
2008: Mark I McCarthy; Joel N Hirschhorn
Genome-wide association studies: potential next steps on a genetic journey.
Human molecular genetics 2008;17(R2):R156-65.
2008: Mark I McCarthy; Joel N Hirschhorn
Genome-wide association studies: past, present and future.
Human molecular genetics 2008;17(R2):R100-1.
2008: Guillaume Lettre; Vijay G Sankaran; Marcos André C Bezerra; Aderson S Araújo; Manuela Uda; serena Sanna; Antonio Cao; David Schlessinger; Fernando F Costa; Joel N Hirschhorn; Stuart H Orkin
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 2008;105(33):11869-74.
2008: Elizabeth K Speliotes; Joseph M Massaro; Udo Hoffmann; Meredith C Foster; Dushyant V Sahani; Joel N Hirschhorn; Christopher J O'Donnell; Caroline S Fox
Liver fat is reproducibly measured using computed tomography in the Framingham Heart Study.
Journal of gastroenterology and hepatology 2008;23(6):894-9.
2008: Joel N Hirschhorn; Luigi Gennari
Bona fide genetic associations with bone mineral density.
The New England journal of medicine 2008;358(22):2403-5.
2008: Mark I McCarthy; Goncalo Abecasis; Lon R Cardon; David B Goldstein; Julian Little; John Ioannidis; Joel N Hirschhorn
Genome-wide association studies for complex traits: consensus, uncertainty and challenges.
Nature reviews. Genetics 2008;9(5):356-69.
2008: Catarina D Campbell; Andrew Kirby; James Nemesh; Mark J Daly; Joel N Hirschhorn
A survey of allelic imbalance in F1 mice.
Genome research 2008;18(4):555-63.
2008: Jarred B McAteer; Sabrina Prudente; Simonetta Bacci; Helen N Lyon; Joel N Hirschhorn; Vincenzo Trischitta; Jose C Florez
The ENPP1 K121Q polymorphism is associated with type 2 diabetes in European populations: evidence from an updated meta-analysis in 42,042 subjects.
Diabetes 2008;57(4):1125-30.
2008: Sekar Kathiresan; Olle Melander; Dragi Anevski; Candace Guiducci; Noël P Burtt; Charlotta Roos; Joel N Hirschhorn; Göran Berglund; Bo Hedblad; Leif Groop; David Altshuler; Christopher Newton-Cheh; Marju Orho-Melander
Polymorphisms associated with cholesterol and risk of cardiovascular events.
The New England journal of medicine 2008;358(12):1240-9.
2008: Manuela Uda; Renzo Galanello; serena Sanna; Guillaume Lettre; Vijay G Sankaran; Weimin Chen; Gianluca Usala; Fabio Busonero; Andrea Maschio; Giuseppe Albai; Maria Grazia Piras; Natascia Sestu; Sandra Lai; Mariano Dei; Antonella Mulas; Laura Crisponi; Silvia Naitza; Isadora Asunis; Manila Deiana; Ramaiah Nagaraja; Luciana Perseu; Stefania Satta; MD Cipollina; Carla Sollaino; Paolo Moi; Joel N Hirschhorn; Stuart H Orkin; Goncalo Abecasis; David Schlessinger; Antonio Cao
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 2008;105(5):1620-5.
2008: Celeste Leigh Pearce; Aimee M Near; Johannah L Butler; David Van Den Berg; Philip Bretsky; David V Conti; Daniel O Stram; Malcolm Pike; Joel N Hirschhorn; Anna H Wu
Comprehensive evaluation of ESR2 variation and ovarian cancer risk.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008;17(2):393-6.
2008: Alkes L Price; Johannah Butler; Nick Patterson; Cristian Capelli; Vincenzo L Pascali; Francesca Scarnicci; Andres Ruiz-Linares; Leif Groop; Angelica Saetta; Penelope Korkolopoulou; Uri Seligsohn; Alicja Waliszewska; Christine Schirmer; Kristin G Ardlie; Alexis Ramos; James Nemesh; Lori Arbeitman; David B Goldstein; David Reich; Joel N Hirschhorn
Discerning the ancestry of European Americans in genetic association studies.
PLoS genetics 2008;4(1):e236.
2007: Robert K Montgomery; Stephen D Krasinski; Joel N Hirschhorn; Richard J Grand
Lactose and lactase--who is lactose intolerant and why?
Journal of pediatric gastroenterology and nutrition 2007;45 Suppl 2():S131-7.
2007: Christopher Newton-Cheh; Chao-Yu Guo; Martin G Larson; Stacy L Musone; Aarti Surti; Amy L Camargo; Jared A Drake; Emelia Benjamin; Daniel Levy; Ralph B D'Agostino; Joel N Hirschhorn; Christopher J O'Donnell
Common genetic variation in KCNH2 is associated with QT interval duration: the Framingham Heart Study.
Circulation 2007;116(10):1128-36.
2007: Guillaume Lettre; Johannah L Butler; Kristin G Ardlie; Joel N Hirschhorn
Common genetic variation in eight genes of the GH/IGF1 axis does not contribute to adult height variation.
Human genetics 2007;122(2):129-39.
2007: Erik Ingelsson; Martin G Larson; Ramachandran S Vasan; Christopher J O'Donnell; Xiaoyan Yin; Joel N Hirschhorn; Christopher Newton-Cheh; Jared A Drake; Stacy L Musone; Nancy L Heard-Costa; Emelia Benjamin; Daniel Levy; Larry D Atwood; Thomas J Wang; Sekar Kathiresan
Heritability, linkage, and genetic associations of exercise treadmill test responses.
Circulation 2007;115(23):2917-24.
2007: Gary F Mitchell; Chao-Yu Guo; Sekar Kathiresan; Ramachandran S Vasan; Martin G Larson; Joseph A Vita; Michelle J Keyes; Mitul Vyas; Christopher Newton-Cheh; Stacy L Musone; Amy L Camargo; Jared A Drake; Daniel Levy; Christopher J O'Donnell; Joel N Hirschhorn; Emelia Benjamin
Vascular stiffness and genetic variation at the endothelial nitric oxide synthase locus: the Framingham Heart study.
Hypertension 2007;49(6):1285-90.
2007: Guillaume Lettre; Christoph Lange; Joel N Hirschhorn
Genetic model testing and statistical power in population-based association studies of quantitative traits.
Genetic epidemiology 2007;31(4):358-62.
2007: Catarina D Campbell; Helen N Lyon; James Nemesh; Jared A Drake; Tiinamaija Tuomi; Daniel Gaudet; Xiaofeng Zhu; Richard S Cooper; Kristin G Ardlie; Leif C Groop; Joel N Hirschhorn
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 2007;56(5):1460-7.
2007: Christopher Newton-Cheh; Chao-Yu Guo; Philimon Gona; Martin G Larson; Emelia Benjamin; Thomas J Wang; Sekar Kathiresan; Christopher J O'Donnell; Stacy L Musone; Amy L Camargo; Jared A Drake; Daniel Levy; Joel N Hirschhorn; Ramachandran S Vasan
Clinical and genetic correlates of aldosterone-to-renin ratio and relations to blood pressure in a community sample.
Hypertension 2007;49(4):846-56.
2007: Wendy Winckler; Michael Weedon; Robert R Graham; Steven A McCarroll; Shaun Purcell; Peter Almgren; Tiinamaija Tuomi; Daniel Gaudet; Kristina Bengtsson Boström; Mark Walker; Graham A Hitman; Andrew T Hattersley; Mark I McCarthy; Kristin G Ardlie; Joel N Hirschhorn; Mark J Daly; Timothy M Frayling; Leif Groop; David Altshuler
Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes.
Diabetes 2007;56(3):685-93.
2007: Sulggi A Lee; Christopher A Haiman; Noël P Burtt; Loreall Pooler; Iona Cheng; Laurence N Kolonel; Malcolm Pike; David Altshuler; Joel N Hirschhorn; Brian Henderson; Daniel O Stram
A comprehensive analysis of common genetic variation in prolactin (PRL) and PRL receptor (PRLR) genes in relation to plasma prolactin levels and breast cancer risk: the multiethnic cohort.
BMC medical genetics 2007;8():72.
2006: Veronica Wendy Setiawan; Iona Cheng; Daniel O Stram; Elena Giorgi; Malcolm Pike; David Van Den Berg; Loreall Pooler; Noël P Burtt; Loïc Le Marchand; David Altshuler; Joel N Hirschhorn; Brian Henderson; Christopher A Haiman
A systematic assessment of common genetic variation in CYP11A and risk of breast cancer.
Cancer research 2006;66(24):12019-25.
2006: Jose C Florez; Richa Saxena; Wendy Winckler; Noël P Burtt; Peter Almgren; Kristina Bengtsson Boström; Tiinamaija Tuomi; Daniel Gaudet; Kristin G Ardlie; Mark J Daly; David Altshuler; Joel N Hirschhorn; Leif Groop
The Krüppel-like factor 11 (KLF11) Q62R polymorphism is not associated with type 2 diabetes in 8,676 people.
Diabetes 2006;55(12):3620-4.
2006: Helen N Lyon; Jose C Florez; Todd Bersaglieri; Richa Saxena; Wendy Winckler; Peter Almgren; Ulf Lindblad; Tiinamaija Tuomi; Daniel Gaudet; Xiaofeng Zhu; Richard Cooper; Kristin G Ardlie; Mark J Daly; David Altshuler; Leif Groop; Joel N Hirschhorn
Common variants in the ENPP1 gene are not reproducibly associated with diabetes or obesity.
Diabetes 2006;55(11):3180-4.
2006: Paul I W de Bakker; Noël P Burtt; Robert R Graham; Candace Guiducci; Roman Yelensky; Jared A Drake; Todd Bersaglieri; Kathryn L Penney; Johannah Butler; Stanton Young; Robert C Onofrio; Helen N Lyon; Daniel O Stram; Christopher A Haiman; Matthew L Freedman; Xiaofeng Zhu; Richard Cooper; Leif Groop; Laurence N Kolonel; Brian Henderson; Mark J Daly; Joel N Hirschhorn; David Altshuler
Transferability of tag SNPs in genetic association studies in multiple populations.
Nature genetics 2006;38(11):1298-303.
2006: Iona Cheng; Kathryn L Penney; Daniel O Stram; Loïc Le Marchand; Elena Giorgi; Christopher A Haiman; Laurence N Kolonel; Malcolm Pike; Joel N Hirschhorn; Brian Henderson; Matthew L Freedman
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 2006;15(10):1993-7.
2006: Richa Saxena; Lauren Gianniny; Noël P Burtt; Valeriya Lyssenko; Candace Giuducci; Marketa Sjögren; Jose C Florez; Peter Almgren; Bo Isomaa; Marju Orho-Melander; Ulf Lindblad; Mark J Daly; Tiinamaija Tuomi; Joel N Hirschhorn; Kristin G Ardlie; Leif C Groop; David Altshuler
Common single nucleotide polymorphisms in TCF7L2 are reproducibly associated with type 2 diabetes and reduce the insulin response to glucose in nondiabetic individuals.
Diabetes 2006;55(10):2890-5.
2006: Indraneel Banerjee; Julie A Trueman; Catherine M Hall; David A Price; Leena Patel; Andrew J Whatmore; Joel N Hirschhorn; Andrew P Read; Mark R Palmert; Peter E Clayton
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 2006;155(1):121-6.
2006: Richa Saxena; Paul I W de Bakker; Karyn Singer; Vamsi K Mootha; Noël P Burtt; Joel N Hirschhorn; Daniel Gaudet; Bo Isomaa; Mark J Daly; Leif Groop; Kristin G Ardlie; David Altshuler
Comprehensive association testing of common mitochondrial DNA variation in metabolic disease.
American journal of human genetics 2006;79(1):54-61.
2006: Hiroyuki Morita; Martin G Larson; Scott C Barr; Ramachandran S Vasan; Christopher J O'Donnell; Joel N Hirschhorn; Daniel Levy; Diane Corey; Christine E Seidman; Jonathan G Seidman; Emelia Benjamin
Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study.
Circulation 2006;113(23):2697-705.
2006: Dan E Arking; Arne Pfeufer; Wendy S Post; WEN KAO; Christopher Newton-Cheh; Morna Ikeda; Kristen West; Carl S Kashuk; Mahmut Akyol; Siegfried Perz; Shapour Jalilzadeh; Thomas Illig; Christian Gieger; Chao-Yu Guo; Martin G Larson; H-Erich Wichmann; Eduardo Marban; Christopher J O'Donnell; Joel N Hirschhorn; Stefan Kääb; PETER SPOONER; Thomas Meitinger; Aravinda Chakravarti
A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization.
Nature genetics 2006;38(6):644-51.
2006: Sekar Kathiresan; Qiong Yang; Martin G Larson; Amy L Camargo; Geoffrey H Tofler; Joel N Hirschhorn; Stacey B Gabriel; Christopher J O'Donnell
Common genetic variation in five thrombosis genes and relations to plasma hemostatic protein level and cardiovascular disease risk.
Arteriosclerosis, thrombosis, and vascular biology 2006;26(6):1405-12.
2006: Alan Herbert; Norman P Gerry; Matthew B McQueen; Iris M Heid; Arne Pfeufer; Thomas Illig; H-Erich Wichmann; Thomas Meitinger; David Hunter; Frank B Hu; GRaham Colditz; Anke Hinney; Johannes Hebebrand; Kerstin Koberwitz; Xiaofeng Zhu; Richard Cooper; Kristin G Ardlie; Helen N Lyon; Joel N Hirschhorn; Nan M Laird; Marc E Lenburg; Christoph Lange; Michael F Christman
A common genetic variant is associated with adult and childhood obesity.
Science (New York, N.Y.) 2006;312(5771):279-83.
2006: Sekar Kathiresan; Martin G Larson; Ramachandran S Vasan; Chao-Yu Guo; Philimon Gona; John F Keaney; Peter W F Wilson; Christopher Newton-Cheh; Stacy L Musone; Amy L Camargo; Jared A Drake; Daniel Levy; Christopher J O'Donnell; Joel N Hirschhorn; Emelia Benjamin
Contribution of clinical correlates and 13 C-reactive protein gene polymorphisms to interindividual variability in serum C-reactive protein level.
Circulation 2006;113(11):1415-23.
2006: Maria W Sun; Jennifer Y Lee; Paul I W de Bakker; Noël P Burtt; Peter Almgren; Lennart Råstam; Tiinamaija Tuomi; Daniel Gaudet; Mark J Daly; Joel N Hirschhorn; David Altshuler; Leif Groop; Jose C Florez
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 2006;55(3):849-55.
2006: Jared A Drake; Christine Bird; James Nemesh; Daryl J Thomas; Christopher Newton-Cheh; Alexandre Reymond; Laurent Excoffier; Homa Attar; Stylianos E Antonarakis; Emmanouil T Dermitzakis; Joel N Hirschhorn
Conserved noncoding sequences are selectively constrained and not mutation cold spots.
Nature genetics 2006;38(2):223-7.
2006: Iona Cheng; Daniel O Stram; Kathryn L Penney; Malcolm Pike; Loïc Le Marchand; Laurence N Kolonel; Joel N Hirschhorn; David Altshuler; Brian Henderson; Matthew L Freedman
Common genetic variation in IGF1 and prostate cancer risk in the Multiethnic Cohort.
Journal of the National Cancer Institute 2006;98(2):123-34.
2006: Veronica Wendy Setiawan; Iona Cheng; Daniel O Stram; Kathryn L Penney; Loïc Le Marchand; David Altshuler; Laurence N Kolonel; Joel N Hirschhorn; Brian Henderson; Matthew L Freedman
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 2006;15(1):172-4.
2006: Jose C Florez; Steven Wiltshire; Christina M Agapakis; Noël P Burtt; Paul I W de Bakker; Peter Almgren; Kristina Bengtsson Boström; Tiinamaija Tuomi; Daniel Gaudet; Mark J Daly; Joel N Hirschhorn; Mark I McCarthy; David Altshuler; Leif Groop
High-density haplotype structure and association testing of the insulin-degrading enzyme (IDE) gene with type 2 diabetes in 4,206 people.
Diabetes 2006;55(1):128-35.
2005: Sekar Kathiresan; Stacey B Gabriel; Qiong Yang; Amy L Lochner; Martin G Larson; Daniel Levy; Geoffrey H Tofler; Joel N Hirschhorn; Christopher J O'Donnell
Comprehensive survey of common genetic variation at the plasminogen activator inhibitor-1 locus and relations to circulating plasminogen activator inhibitor-1 levels.
Circulation 2005;112(12):1728-35.
2005: Sekar Kathiresan; Martin G Larson; Ramachandran S Vasan; Chao-Yu Guo; Joseph A Vita; Gary F Mitchell; Michelle J Keyes; Christopher Newton-Cheh; Stacy L Musone; Amy L Lochner; Jared A Drake; Daniel Levy; Christopher J O'Donnell; Joel N Hirschhorn; Emelia Benjamin
Common genetic variation at the endothelial nitric oxide synthase locus and relations to brachial artery vasodilator function in the community.
Circulation 2005;112(10):1419-27.
2005: David H McDermott; Qiong Yang; Sekar Kathiresan; L Adrienne Cupples; Joseph M Massaro; John F Keaney; Martin G Larson; Ramachandran S Vasan; Joel N Hirschhorn; Christopher J O'Donnell; Philip M Murphy; Emelia Benjamin
CCL2 polymorphisms are associated with serum monocyte chemoattractant protein-1 levels and myocardial infarction in the Framingham Heart Study.
Circulation 2005;112(8):1113-20.
2005: Wendy Winckler; Noël P Burtt; Johan Holmkvist; Camilla Cervin; Paul I W de Bakker; Maria Sun; Peter Almgren; Tiinamaija Tuomi; Daniel Gaudet; Thomas J Hudson; Kristin G Ardlie; Mark J Daly; Joel N Hirschhorn; David Altshuler; Leif Groop
Association of common variation in the HNF1alpha gene region with risk of type 2 diabetes.
Diabetes 2005;54(8):2336-42.
2005: Catarina D Campbell; Elizabeth L Ogburn; Kathryn L Lunetta; Helen N Lyon; Matthew L Freedman; Leif C Groop; David Altshuler; Kristin G Ardlie; Joel N Hirschhorn
Demonstrating stratification in a European American population.
Nature genetics 2005;37(8):868-72.
2005: Helen N Lyon; Joel N Hirschhorn
Genetics of common forms of obesity: a brief overview.
The American journal of clinical nutrition 2005;82(1 Suppl):215S-217S.
2005: Christopher Newton-Cheh; Joel N Hirschhorn
Genetic association studies of complex traits: design and analysis issues.
Mutation research 2005;573(1-2):54-69.
2005: Jose C Florez; Christina M Agapakis; Noël P Burtt; Maria Sun; Peter Almgren; Lennart Råstam; Tiinamaija Tuomi; Daniel Gaudet; Thomas J Hudson; Mark J Daly; Kristin G Ardlie; Joel N Hirschhorn; Leif Groop; David Altshuler
Association testing of the protein tyrosine phosphatase 1B gene (PTPN1) with type 2 diabetes in 7,883 people.
Diabetes 2005;54(6):1884-91.
2005: Joel N Hirschhorn
Genetic approaches to studying common diseases and complex traits.
Pediatric research 2005;57(5 Pt 2):74R-77R.
2005: David Altshuler; Joel N Hirschhorn
MEF2A sequence variants and coronary artery disease: a change of heart?
The Journal of clinical investigation 2005;115(4):831-3.
2005: Wendy Winckler; Robert R Graham; Paul I W de Bakker; Maria Sun; Peter Almgren; Tiinamaija Tuomi; Daniel Gaudet; Thomas J Hudson; Kristin G Ardlie; Mark J Daly; Joel N Hirschhorn; Leif Groop; David Altshuler
Association testing of variants in the hepatocyte nuclear factor 4alpha gene with risk of type 2 diabetes in 7,883 people.
Diabetes 2005;54(3):886-92.
2005: Joel N Hirschhorn; Mark J Daly
Genome-wide association studies for common diseases and complex traits.
Nature reviews. Genetics 2005;6(2):95-108.
2005: Ines L Sedlmeyer; Celeste L Pearce; Julie A Trueman; Johannah L Butler; Todd Bersaglieri; Andrew P Read; Peter E Clayton; Laurence N Kolonel; Brian Henderson; Joel N Hirschhorn; Mark R Palmert
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 2005;90(2):1091-9.
2005: Celeste L Pearce; Joel N Hirschhorn; Anna H Wu; Noël P Burtt; Daniel O Stram; Stanton Young; Laurence N Kolonel; Brian Henderson; David Altshuler; Malcolm Pike
Clarifying the PROGINS allele association in ovarian and breast cancer risk: a haplotype-based analysis.
Journal of the National Cancer Institute 2005;97(1):51-9.
2005: Matthew L Freedman; Celeste L Pearce; Kathryn L Penney; Joel N Hirschhorn; Laurence N Kolonel; Brian Henderson; David Altshuler
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 2005;76(1):82-90.
2004: Jose C Florez; Marketa Sjögren; Noël P Burtt; Marju Orho-Melander; Steve Schayer; Maria Sun; Peter Almgren; Ulf Lindblad; Tiinamaija Tuomi; Daniel Gaudet; Thomas J Hudson; Mark J Daly; Kristin G Ardlie; Joel N Hirschhorn; David Altshuler; Leif Groop
Association testing in 9,000 people fails to confirm the association of the insulin receptor substrate-1 G972R polymorphism with type 2 diabetes.
Diabetes 2004;53(12):3313-8.
2004: Matthew L Freedman; Kathryn L Penney; Daniel O Stram; Loïc Le Marchand; Joel N Hirschhorn; Laurence N Kolonel; David Altshuler; Brian Henderson; Christopher A Haiman
Common variation in BRCA2 and breast cancer risk: a haplotype-based analysis in the Multiethnic Cohort.
Human molecular genetics 2004;13(20):2431-41.
2004: Todd Bersaglieri; Pardis C Sabeti; Nick Patterson; Trisha Vanderploeg; Stephen F Schaffner; Jared A Drake; Matthew Rhodes; David E Reich; Joel N Hirschhorn
Genetic signatures of strong recent positive selection at the lactase gene.
American journal of human genetics 2004;74(6):1111-20.
2004: Jose C Florez; Noël P Burtt; Paul I W de Bakker; Peter Almgren; Tiinamaija Tuomi; Johan Holmkvist; Daniel Gaudet; Thomas J Hudson; Stephen F Schaffner; Mark J Daly; Joel N Hirschhorn; Leif Groop; David Altshuler
Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region.
Diabetes 2004;53(5):1360-8.
2004: Matthew L Freedman; David Reich; Kathryn L Penney; Gavin J McDonald; Andre A Mignault; Nick Patterson; Stacey B Gabriel; Eric J Topol; Jordan W Smoller; Carlos N Pato; Michele T Pato; Tracey L Petryshen; Laurence N Kolonel; Eric S Lander; Pamela Sklar; Brian Henderson; Joel N Hirschhorn; David Altshuler
Assessing the impact of population stratification on genetic association studies.
Nature genetics 2004;36(4):388-93.
2003: Christopher A Haiman; Daniel O Stram; Malcolm Pike; Laurence N Kolonel; Noël P Burtt; David Altshuler; Joel N Hirschhorn; Brian Henderson
A comprehensive haplotype analysis of CYP19 and breast cancer risk: the Multiethnic Cohort.
Human molecular genetics 2003;12(20):2679-92.
2003: Mark R Palmert; Joel N Hirschhorn
Genetic approaches to stature, pubertal timing, and other complex traits.
Molecular genetics and metabolism 2003;80(1-2):1-10.
2003: Vamsi K Mootha; Cecilia M Lindgren; Karl-Fredrik Eriksson; Aravind Subramanian; Smita Sihag; Joseph Lehar; Pere Puigserver; Emma Carlsson; Martin Ridderstråle; Esa Laurila; Nicholas Houstis; Mark J Daly; Nick Patterson; Jill P Mesirov; Todd R Golub; Pablo Tamayo; Bruce M Spiegelman; Eric S Lander; Joel N Hirschhorn; David Altshuler; Leif C Groop
PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes.
Nature genetics 2003;34(3):267-73.
2003: Richard J Grand; Robert K Montgomery; Denesh K Chitkara; Joel N Hirschhorn
Changing genes; losing lactase.
Gut 2003;52(5):617-9.
2003: Kirk E Lohmueller; Celeste L Pearce; Malcolm Pike; Eric S Lander; Joel N Hirschhorn
Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease.
Nature genetics 2003;33(2):177-82.
2003: Daniel O Stram; Celeste Leigh Pearce; Philip Bretsky; Matthew Freedman; Joel N Hirschhorn; David Altshuler; Laurence N Kolonel; Brian Henderson; Duncan C Thomas
Modeling and E-M estimation of haplotype-specific relative risks from genotype data for a case-control study of unrelated individuals.
Human heredity 2003;55(4):179-90.
2003: Jose C Florez; Joel N Hirschhorn; David Altshuler
The inherited basis of diabetes mellitus: implications for the genetic analysis of complex traits.
Annual review of genomics and human genetics 2003;4():257-91.
2003: Daniel O Stram; Christopher A Haiman; Joel N Hirschhorn; David Altshuler; Laurence N Kolonel; Brian Henderson; Malcolm Pike
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 2003;55(1):27-36.
2002: Ines L Sedlmeyer; Joel N Hirschhorn; Mark R Palmert
Pedigree analysis of constitutional delay of growth and maturation: determination of familial aggregation and inheritance patterns.
The Journal of clinical endocrinology and metabolism 2002;87(12):5581-6.
2002: James C Engert; Marie-Claude Vohl; scott williams; Pierre Lepage; J Concepción Loredo-Osti; Janet Faith; Carole Doré; Yannick Renaud; Noël P Burtt; Amélie Villeneuve; Joel N Hirschhorn; David Altshuler; Leif C Groop; Jean-Pierre Després; Daniel Gaudet; Thomas J Hudson
5' flanking variants of resistin are associated with obesity.
Diabetes 2002;51(5):1629-34.
2002: Joel N Hirschhorn; Kirk E Lohmueller; Edward Byrne; Kurt Hirschhorn
A comprehensive review of genetic association studies.
Genetics in medicine : official journal of the American College of Medical Genetics 2002;4(2):45-61.
2001: Joel N Hirschhorn; Cecilia M Lindgren; Mark J Daly; Andrew Kirby; Stephen F Schaffner; Noël P Burtt; David Altshuler; A Parker; John D Rioux; Jill Platko; Daniel Gaudet; Thomas J Hudson; Leif C Groop; Eric S Lander
Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height.
American journal of human genetics 2001;69(1):106-16.
2000: Joel N Hirschhorn; Pamela Sklar; Kerstin Lindblad-Toh; Y M Lim; M Ruiz-Gutierrez; S Bolk; Bradley Langhorst; Stephen F Schaffner; E Winchester; Eric S Lander
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 2000;97(22):12164-9.
2000: David Altshuler; Joel N Hirschhorn; Mia Klannemark; Cecilia M Lindgren; M C Vohl; James Nemesh; C R Lane; Stephen F Schaffner; S Bolk; Carl G Brewer; Tiinamaija Tuomi; Daniel Gaudet; Thomas J Hudson; Mark J Daly; Leif Groop; Eric S Lander
The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes.
Nature genetics 2000;26(1):76-80.
2000: Kerstin Lindblad-Toh; E Winchester; Mark J Daly; D G Wang; Joel N Hirschhorn; J P Laviolette; Kristin G Ardlie; David E Reich; E Robinson; Pamela Sklar; N Shah; D Thomas; Jian-Bing Fan; Thomas Gingeras; J Warrington; N Patil; Thomas J Hudson; Eric S Lander
Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse.
Nature genetics 2000;24(4):381-6.