Nihir Patel

Genomic analyses implicate noncoding de novo variants in congenital heart disease

Felix Richter, Sarah U. Morton, Seong Won Kim et al. · Nature Genetics · 2020 · 167 citations · Full text

Variant Interpretation, Genetics, Congenital Heart Defect +7

Identification of rare de novo epigenetic variations in congenital disorders

Mafalda Barbosa, Ricky S. Joshi, Paras Garg et al. · Nature Communications · 2018 · 99 citations · Full text

Myopathic Cardiac Genotypes Increase Risk for Myocarditis

Amy Kontorovich, Nihir Patel, Arden Moscati et al. · JACC Basic to Translational Science · 2021 · 79 citations · Full text

Loss of RNA expression and allele-specific expression associated with congenital heart disease

David McKean, Jason Homsy, Hiroko Wakimoto et al. · Nature Communications · 2016 · 68 citations · Full text

A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions

Paras Garg, Bharati Jadhav, Oscar L. Rodriguez et al. · The American Journal of Human Genetics · 2020 · 61 citations · Full text

Genome-wide Association Study, Allelic Variant, Rare Epigenetic Variation +8