Joel N Hofman Hirschhorn - Genetic Mutations

Author Information

Joel N. Hirschhorn is affiliated with the Broad Institute of MIT and Harvard, located in Cambridge, MA, USA. His research primarily focuses on genetics, with significant contributions to understanding genetic factors influencing human traits and diseases.

Research Contributions

Joel N. Hirschhorn has made substantial contributions to the field of genetics, with a particular focus on genome-wide association studies (GWAS) and the genetic determinants of human height. His research includes investigating the genetic risk factors for various conditions such as polycystic ovary syndrome, psychiatric disorders, and lipid metabolism. His work often emphasizes the importance of genetic diversity and the role of specific genes in different biological processes. Notable studies include the discovery and fine-mapping of height loci in individuals of African ancestry and the effects of genetic diversity on lipid-related traits.

Aliases

Joel N. Hirschhorn is known by several aliases, including J. Hirschhorn, J. N. Hirschhorn, Joel Hirschhorn, Joel N Hofman Hirschhorn, and Joel N. Hirschhorn.

Publication and Citation Metrics

Metric	Value
Citation Count	108178
h-index	139
Paper Count	500

Publications:

A Saturated Map of Common Genetic Variants Associated with Human Height from 5.4 Million Individuals of Diverse Ancestries

DOI: 10.1101/2022.01.07.475305

Year: 2022

Evidence From Men for Ovary-independent Effects of Genetic Risk Factors for Polycystic Ovary Syndrome

DOI: 10.1210/clinem/dgab838

Year: 2021

Genes with Specificity for Expression in the Round Cell Layer of the Growth Plate are Enriched in GWAS of Human Height

DOI: 10.1101/2021.02.24.432568

Year: 2021

A Comparison of Ten Polygenic Score Methods for Psychiatric Disorders Applied Across Multiple Cohorts

DOI: 10.1016/j.biopsych.2021.04.018

Year: 2021

The power of genetic diversity in genome-wide association studies of lipids.

DOI: 10.1038/s41586-021-04064-3

Year: 2021

Racial/Ethnic Disparities in the Investigation and Treatment of Pediatric Growth Hormone Deficiency

DOI: 10.1210/jendso/bvab048.1402

Year: 2021

Growth Hormone Stimulation Testing Patterns Contribute to Gender Disparities in Growth Hormone Treatment

DOI: 10.1210/jendso/bvab048.1380

Year: 2021

The comparative effect of exposure to various risk factors on the risk of hyperuricaemia: diet has a weak causal effect

DOI: 10.1186/s13075-021-02444-8

Year: 2021

Genetic Study in a Cohort of Children With ROHHAD Syndrome

DOI: 10.1210/JENDSO/BVAB048.1028

Year: 2021

Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry.

DOI: 10.1016/j.ajhg.2021.02.011

Year: 2021

What Causes Cellular Heterogeneity?

Can Missense Mutations be Treated or Repaired?

What types of genetic mutations are associated with PAH exposure?

What is Hydroxyurea?

Can Gene Amplification Be Targeted Therapeutically?

What are the Technical Challenges?

How is Third Generation Sequencing Used in Research and Medicine?

How are Mutations Detected?

How are Results Validated?

How Can Genetic Counseling Help Families Affected by the Delta F508 Mutation?

Partnered Content Networks

Relevant Topics