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Author Details

Joel N Hirschhorn
Broad Institute of MIT and Harvard
1988
340
114
PMIDPaper TitleJournal TitlePublished Year
37690116Pediatric Features of Genetic Predisposition to Polycystic Ovary Syndrome.J Clin Endocrinol Metab2024
38057443Inferring compound heterozygosity from large-scale exome sequencing data.Nat Genet2024
37690116Pediatric Features of Genetic Predisposition to Polycystic Ovary Syndrome.J Clin Endocrinol Metab2024
38057443Inferring compound heterozygosity from large-scale exome sequencing data.Nat Genet2024
36798175Identification and analysis of individuals who deviate from their genetically-predicted phenotype.bioRxiv2023
37733769Identification and analysis of individuals who deviate from their genetically-predicted phenotype.PLoS Genet2023
37987184Phenotyping children and adolescents with obesity using behavioral, psychological, and familial data.Obesity (Silver Spring)2023
37214416Corrigendum: Genetic heritability as a tool to evaluate the precision of 24-hour recall dietary questionnaire variables in UK Biobank.Front Genet2023
37339320Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.J Clin Endocrinol Metab2023
37443254Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases.Nat Genet2023
36993580Inferring compound heterozygosity from large-scale exome sequencing data.bioRxiv2023
36798175Identification and analysis of individuals who deviate from their genetically-predicted phenotype.bioRxiv2023
36685884Genetic heritability as a tool to evaluate the precision of 24-hour recall dietary questionnaire variables in UK Biobank.Front Genet2023
37228756Genome-wide CRISPR screening of chondrocyte maturation newly implicates genes in skeletal growth and height-associated GWAS loci.Cell Genom2023
37292977Genetics of skeletal proportions in two different populations.bioRxiv2023
37987184Phenotyping children and adolescents with obesity using behavioral, psychological, and familial data.Obesity (Silver Spring)2023
37733769Identification and analysis of individuals who deviate from their genetically-predicted phenotype.PLoS Genet2023
36993580Inferring compound heterozygosity from large-scale exome sequencing data.bioRxiv2023
37214416Corrigendum: Genetic heritability as a tool to evaluate the precision of 24-hour recall dietary questionnaire variables in UK Biobank.Front Genet2023
37443254Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases.Nat Genet2023
37339320Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.J Clin Endocrinol Metab2023
37228756Genome-wide CRISPR screening of chondrocyte maturation newly implicates genes in skeletal growth and height-associated GWAS loci.Cell Genom2023
37292977Genetics of skeletal proportions in two different populations.bioRxiv2023
36685884Genetic heritability as a tool to evaluate the precision of 24-hour recall dietary questionnaire variables in UK Biobank.Front Genet2023
34969092Evidence From Men for Ovary-independent Effects of Genetic Risk Factors for Polycystic Ovary Syndrome.J Clin Endocrinol Metab2022
35763030Genome-wide meta-analysis and omics integration identifies novel genes associated with diabetic kidney disease.Diabetologia2022
35688811Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder.Nat Commun2022
35803701Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms.J Med Genet2022
35978186Post-translational control of beige fat biogenesis by PRDM16 stabilization.Nature2022
36550108Epigenome-wide meta-analysis identifies DNA methylation biomarkers associated with diabetic kidney disease.Nat Commun2022
34969092Evidence From Men for Ovary-independent Effects of Genetic Risk Factors for Polycystic Ovary Syndrome.J Clin Endocrinol Metab2022
35803701Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms.J Med Genet2022
35763030Genome-wide meta-analysis and omics integration identifies novel genes associated with diabetic kidney disease.Diabetologia2022
35688811Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder.Nat Commun2022
36550108Epigenome-wide meta-analysis identifies DNA methylation biomarkers associated with diabetic kidney disease.Nat Commun2022
35978186Post-translational control of beige fat biogenesis by PRDM16 stabilization.Nature2022
32949984Potential causal role of l-glutamine in sickle cell disease painful crises: A Mendelian randomization analysis.Blood Cells Mol Dis2021
33901521Racial and Ethnic Disparities in the Investigation and Treatment of Growth Hormone Deficiency.J Pediatr2021
33663556The comparative effect of exposure to various risk factors on the risk of hyperuricaemia: diet has a weak causal effect.Arthritis Res Ther2021
33933144Assessment of differentially methylated loci in individuals with end-stage kidney disease attributed to diabetic kidney disease: an exploratory study.Clin Epigenetics2021
33713608Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry.Am J Hum Genet2021
34346115Genes with specificity for expression in the round cell layer of the growth plate are enriched in genomewide association study (GWAS) of human height.J Bone Miner Res2021
32989287Genome-wide association study identifies 48 common genetic variants associated with handedness.Nat Hum Behav2021
33174594Response to Letter to the Editor: "A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness".J Clin Endocrinol Metab2021
32949984Potential causal role of l-glutamine in sickle cell disease painful crises: A Mendelian randomization analysis.Blood Cells Mol Dis2021
34662877Growth Hormone Stimulation Testing Patterns Contribute to Sex Differences in Pediatric Growth Hormone Treatment.Horm Res Paediatr2021
33713608Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry.Am J Hum Genet2021
33901521Racial and Ethnic Disparities in the Investigation and Treatment of Growth Hormone Deficiency.J Pediatr2021
33663556The comparative effect of exposure to various risk factors on the risk of hyperuricaemia: diet has a weak causal effect.Arthritis Res Ther2021
34662877Growth Hormone Stimulation Testing Patterns Contribute to Sex Differences in Pediatric Growth Hormone Treatment.Horm Res Paediatr2021
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Collaborators

David Altshuler
Broad Institute of Harvard and Massachusetts Institute of Technology (MIT)
Co-authored papers 58
Leif Groop
Co-authored papers 55
Ruth J F Loos
Co-authored papers 53
Mark I McCarthy
Co-authored papers 51
Tõnu Esko
Co-authored papers 47
Timothy M Frayling
Co-authored papers 46
Guillaume Lettre
Co-authored papers 46
Sekar Kathiresan
Co-authored papers 43
Veikko Salomaa
Co-authored papers 42
Andr?? G Uitterlinden
Erasmus University Medical Center
Co-authored papers 42
Tamara B Harris
National Institute on Aging
Co-authored papers 42
Terho Lehtim??ki
Finnish Cardiovascular Research Center-Tampere - FCRCT, Tampere University
Co-authored papers 41
Cecilia M Lindgren
Co-authored papers 41
Nicholas J Wareham
Co-authored papers 39
Eric Boerwinkle
Baylor College of Medicine
Co-authored papers 39
Cornelia M van Duijn
University of Oxford
Co-authored papers 39
Fernando Rivadeneira
University Medical Center Rotterdam
Co-authored papers 38
Michael Boehnke
Co-authored papers 38
Sailaja Vedantam
Co-authored papers 38
Jing Hua Zhao
Co-authored papers 38
Olli T Raitakari
Co-authored papers 38
Gon??alo R Abecasis
Regeneron Pharmaceuticals Inc.
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Andres Metspalu
Co-authored papers 37
Brian E Henderson
University of Southern California
Co-authored papers 36
Caroline Hayward
Co-authored papers 36
Albert Hofman
Harvard T.H. Chan School of Public Health
Co-authored papers 35
Marjo-Riitta Järvelin
Co-authored papers 35
Panos Deloukas
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 34
Mark J Daly
Massachusetts General Hospital
Co-authored papers 34
Kari E North
Co-authored papers 34
Release 1.2