Concordia Professor of Pediatrics, Boston Children's Hospital
Pediatric Endocrinology
Dr. Joel N. Hirschhorn, MD
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Joel Hirschhorn is an expert in the field of Pediatric Endocrinology. He attended Harvard Medical School. Harvard Medical School is a one of the best medicals schools. Harvard Medical School is ranked 1/12 in Research/PrimaryCare. He received awards:"Regional Top Doctor" and "Elected Member". Joel Hirschhorn is a published doctor and has 101 publications published. The lastest was: 'Testing the Role of Predicted Gene Knockouts in Human Anthropometric Trait Variation.'
Publications
- Testing the Role of Predicted Gene Knockouts in Human Anthropometric Trait Variation.
- Small island, big genetic discoveries.
- 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 ...
- Genetic studies of body mass index yield new insights for obesity biology.
- New genetic loci link adipose and insulin biology to body fat distribution.
- A Shared Genetic Basis for Self-Limited Delayed Puberty and Idiopathic Hypogonadotropic Hypogonadism.
- A Novel Test for Recessive Contributions to Complex Diseases Implicates Bardet-Biedl Syndrome Gene BBS10 in Idiopathic Type 2 Diabetes and Obesity.
- SNPsnap: a web-based tool for identification and annotation of matched SNPs.
- Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
- Fast and accurate imputation of summary statistics enhances evidence of functional enrichment.
- Simulation of finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland.
- Guidelines for investigating causality of sequence variants in human disease.
- Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations.
- Central Precocious Puberty that appears to be sporadic caused by Paternally inherited mutations in the imprinted GENE makorin ring finger 3.
- An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases.
- Increased Burden of Cardiovascular Disease in Carriers of APOL1 Genetic Variants.
- Common variants associated with plasma triglycerides and risk for coronary artery disease.
- Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes.
- A Novel Deletion of IGF1 in a Patient With Idiopathic Short Stature Provides Insight Into IGF1 Haploinsufficiency.
- Discovery and refinement of loci associated with lipid levels.
- SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q23.4 Copy-Number Variant.
- Redefining the progeroid form of ehlers-danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature.
- Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature.
- Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
- Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity.
- Meta-analysis of Gene-Level Associations for Rare Variants Based on Single-Variant Statistics.
- Replication and fine mapping of asthma-associated loci in individuals of African ancestry.
- Genome-wide association study of age at menarche in African-American women.
- Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
- A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry.
- Association Between Variants in or Near PNPLA3, GCKR, and PPP1R3B with Ultrasound-Defined Steatosis Based on Data from the NHANES III.
- Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder.
- Evidence of widespread selection on standing variation in Europe at height-associated SNPs.
- Novel Microcephalic Primordial Dwarfism Disorder Associated with Variants in the Centrosomal Protein Ninein.
- The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits.
- Association Testing of Previously Reported Variants in a Large Case-Control Meta-Analysis of Diabetic Nephropathy.
- Gencrypt: one-way cryptographic hashes to detect overlapping individuals across samples.
- Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions.
- Common variants show predicted polygenic effects on height in the tails of the distribution, except in extremely short individuals.
- Genetic Defect in CYP24A1, the Vitamin D 24-Hydroxylase Gene, in a Patient with Severe Infantile Hypercalcemia.
- Correction: identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
- Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
- Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile.
- Enhanced Statistical Tests for GWAS in Admixed Populations: Assessment using African Americans from CARe and a Breast Cancer Consortium.
- The history of african gene flow into southern europeans, levantines, and jews.
- An age-dependent diet-modified effect of the PPARγ Pro12Ala polymorphism in children.
- The efficacy of detecting variants with small effects on the Affymetrix 6.0 platform using pooled DNA.
- Genomic inflation factors under polygenic inheritance.
- Genome-wide association studies: results from the first few years and potential implications for clinical medicine.
- Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
- Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
- Genetic Variants of TSLP and Asthma in an Admixed Urban Population.
- Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome.
- Modifier genes in Mendelian disorders: the example of hemoglobin disorders.
- Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation.
- Does a short breastfeeding period protect from FTO-induced adiposity in children?
- Lin28a transgenic mice manifest size and puberty phenotypes identified in human genetic association studies.
- Fatty liver is associated with dyslipidemia and dysglycemia independent of visceral fat: the Framingham Heart Study.
- Distinct variants at LIN28B influence growth in height from birth to adulthood.
- Rapid assessment of genetic ancestry in populations of unknown origin by genome-wide genotyping of pooled samples.
- Inborn variation in metabolism.
- Meta-analysis of the INSIG2 association with obesity including 74,345 individuals: does heterogeneity of estimates relate to study design?
- CYP19A1 genetic variation in relation to prostate cancer risk and circulating sex hormone concentrations in men from the Breast and Prostate Cancer Cohort Consortium.
- NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium.
- Genomewide association studies--illuminating biologic pathways.
- Association of common variants in NPPA and NPPB with circulating natriuretic peptides and blood pressure.
- Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A.
- Ultraconserved elements: analyses of dosage sensitivity, motifs and boundaries.
- Association studies of common variants in 10 hypogonadotropic hypogonadism genes with age at menarche.
- Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose co...
- DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease.
- Bona fide genetic associations with bone mineral density.
- A survey of allelic imbalance in F1 mice.
- Polymorphisms associated with cholesterol and risk of cardiovascular events.
- Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.
- Common variants in the GDF5-UQCC region are associated with variation in human height.
- Comprehensive evaluation of ESR2 variation and ovarian cancer risk.
- Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies.
- Discerning the ancestry of European Americans in genetic association studies.
- Lactose and lactase--who is lactose intolerant and why?
- Common genetic variation in KCNH2 is associated with QT interval duration: the Framingham Heart Study.
- Heritability, linkage, and genetic associations of exercise treadmill test responses.
- Vascular stiffness and genetic variation at the endothelial nitric oxide synthase locus: the Framingham Heart study.
- 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.
- Genetic model testing and statistical power in population-based association studies of quantitative traits.
- The association of a SNP upstream of INSIG2 with body mass index is reproduced in several but not all cohorts.
- Clinical and genetic correlates of aldosterone-to-renin ratio and relations to blood pressure in a community sample.
- Genetic variation at the CYP19A1 locus predicts circulating estrogen levels but not breast cancer risk in postmenopausal women.
- Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes.
- Investigation of the estrogen receptor-alpha gene with type 2 diabetes and/or nephropathy in African-American and European-American populations.
- The Krüppel-like factor 11 (KLF11) Q62R polymorphism is not associated with type 2 diabetes in 8,676 people.
- Common variants in the ENPP1 gene are not reproducibly associated with diabetes or obesity.
- Transferability of tag SNPs in genetic association studies in multiple populations.
- Common single nucleotide polymorphisms in TCF7L2 are reproducibly associated with type 2 diabetes and reduce the insulin response to glucose in nondiabetic individuals.
- Comprehensive association testing of common mitochondrial DNA variation in metabolic disease.
- Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study.
- Common genetic variation in five thrombosis genes and relations to plasma hemostatic protein level and cardiovascular disease risk.
- A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization.
- A common genetic variant is associated with adult and childhood obesity.
- Comprehensive analysis of schizophrenia-associated loci highlights ion channel pathways and biologically plausible candidate causal genes.
Schools
Harvard Medical School
Children39s Hospital Boston
Doctors Specialties
- Pediatric Endocrinology
Accepted Insurances
Awards
- Regional Top Doctor
- Elected Member
Education
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Boston Children's Hospital -
Harvard Medical School
Hospital
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Boston Children's Hospital
Helpful Reviews
Medicare Facts
| National Provider Identifier [NPI] | 1801864632 |
| Last Name Of The Provider | HIRSCHHORN |
| First Name Of The Provider | JOEL |
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