selected publications
- Bidirectional Risk Modulator and Modifier Variant of Dilated and Hypertrophic Cardiomyopathy in BAG3. JAMA cardiology. 2024 Academic Article GET IT
- The common p.Ile291Val variant of ERLIN1 enhances TM6SF2 function and is associated with protection against MASLD. Med (New York, N.Y.). 2024 Academic Article GET IT
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Large-scale identification of undiagnosed hepatic steatosis using natural language processing.
EClinicalMedicine.
2023
Academic Article
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Times cited: 3 - Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice. American journal of medical genetics. Part A. 2023 Academic Article GET IT
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A coding variant in the microsomal triglyceride transfer protein reduces both hepatic steatosis and plasma lipids.
Alimentary pharmacology & therapeutics.
2023
Academic Article
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Times cited: 3 -
Gene burden analysis identifies genes associated with increased risk and severity of adult-onset hearing loss in a diverse hospital-based cohort.
PLoS genetics.
2023
Academic Article
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Times cited: 5 -
Exome-wide association analysis of CT imaging-derived hepatic fat in a medical biobank.
Cell reports. Medicine.
2022
Academic Article
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Times cited: 5 -
Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease.
Nature genetics.
2022
Academic Article
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Times cited: 57 -
A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation.
Nature genetics.
2022
Academic Article
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Times cited: 92 -
Impact of natural selection on global patterns of genetic variation and association with clinical phenotypes at genes involved in SARS-CoV-2 infection.
Proceedings of the National Academy of Sciences of the United States of America.
2022
Academic Article
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Times cited: 8 -
A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank.
Human molecular genetics.
2022
Academic Article
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Times cited: 9 -
Multi-Trait Genome-Wide Association Study of Atherosclerosis Detects Novel Pleiotropic Loci.
Frontiers in genetics.
2022
Academic Article
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Times cited: 3 -
Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes.
American journal of human genetics.
2021
Academic Article
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Times cited: 21 -
A Genome-First Approach to Rare Variants in Dominant Postlingual Hearing Loss Genes in a Large Adult Population.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery.
2021
Academic Article
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Times cited: 2 -
Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults.
Human genetics.
2021
Academic Article
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Times cited: 6 -
Exome-wide evaluation of rare coding variants using electronic health records identifies new gene-phenotype associations.
Nature medicine.
2021
Academic Article
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Times cited: 34 -
Epidemiology of DYT1 dystonia: Estimating prevalence via genetic ascertainment.
Neurology. Genetics.
2019
Academic Article
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Times cited: 12 -
A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes.
Genetics in medicine : official journal of the American College of Medical Genetics.
2019
Academic Article
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Times cited: 36 - Correction: A novel minimally-invasive method to sample human endothelial cells for molecular profiling. 2015 GET IT
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A novel minimally-invasive method to sample human endothelial cells for molecular profiling.
PloS one.
2015
Academic Article
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Times cited: 10