JP
Joseph Park
NewYork–Presbyterian Hospital, University of Pennsylvania Perelman School of Medicine, Harvard University
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genetic Associations and Epidemiology · Genomics and Rare Diseases · Liver Disease Diagnosis and Treatment
0000-0002-3313-641X
Employment
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NewYork–Presbyterian Hospital Resident Physician
Education
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University of Pennsylvania Perelman School of Medicine MD/PhD2015 - 2023
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Harvard University AB in Biomedical Engineering2011 - 2015
Projects & Funding
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Investigating the clinical ontologies of loss-of-function and gain-of-function human gene variants National Human Genome Research Institute2019 - 2023
Publications (24)
- Phenotypes of undiagnosed adults with actionable OTC and GLA variants Save
- Gene burden analysis identifies genes associated with increased risk and severity of adult-onset hearing loss in a diverse hospital-based cohort. Save
- Exome-wide association analysis of CT imaging-derived hepatic fat in a medical biobank. Save
- Whole genome sequence analysis of blood lipid levels in >66,000 individuals. Save
- Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease. Save
- A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation. Save
- Impact of natural selection on global patterns of genetic variation and association with clinical phenotypes at genes involved in SARS-CoV-2 infection. Save
- Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes. Save
- A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank Save
- Endothelial lipase mediates efficient lipolysis of triglyceride-rich lipoproteins Save
- A Genome-First Approach to Rare Variants in Dominant Postlingual Hearing Loss Genes in a Large Adult Population Save
- A genome-first approach to mortality and metabolic phenotypes in MTARC1 p.Ala165Thr (rs2642438) heterozygotes and homozygotes Save
- Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults. Save
- Disrupting upstream translation in mRNAs is associated with human disease. Save
- Exome-wide evaluation of rare coding variants using electronic health records identifies new gene–phenotype associations Save
- Kidney disease genetic risk variants alter lysosomal beta-mannosidase (MANBA) expression and disease severity. Save
- Multi-Trait Genome-Wide Association Study of Atherosclerosis Detects Novel Pleiotropic Loci. Save
- Epidemiology of DYT1 dystonia Save
- A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes Save
- Influence of statins on distinct circulating microRNAs during prolonged aerobic exercise. Save