Ashish Kapoor

Molecular Genetic Anatomy and Risk Profile of Hirschsprung’s Disease

Joseph M. Tilghman, Albee Y. Ling, Tychele N. Turner et al. · New England Journal of Medicine · 2019 · 185 citations · Full text

Functional Loss of Semaphorin 3C and/or Semaphorin 3D and Their Epistatic Interaction with Ret Are Critical to Hirschsprung Disease Liability

Qian Jiang, Stacey Arnold, Tiffany A. Heanue et al. · The American Journal of Human Genetics · 2015 · 147 citations · Full text

Molecular Biology, Functional Loss, Pathology +2

Enhancer Variants Synergistically Drive Dysfunction of a Gene Regulatory Network In Hirschsprung Disease

Sumantra Chatterjee, Ashish Kapoor, Jennifer A. Akiyama et al. · Cell · 2016 · 144 citations · Full text

Enhancer Variants, Genetic Disorder, Genetics +10

An Enhancer Polymorphism at the Cardiomyocyte Intercalated Disc Protein NOS1AP Locus Is a Major Regulator of the QT Interval

Ashish Kapoor, Rajesh B. Sekar, Nancy F. Hansen et al. · The American Journal of Human Genetics · 2014 · 84 citations · Full text

Cardiac Muscle, Enhancer Polymorphism, Cardiomyopathy +10

An idiopathic epilepsy syndrome linked to 3q13.3‐q21 and missense mutations in the extracellular calcium sensing receptor gene

Ashish Kapoor, Parthasarathy Satishchandra, Rinki Ratnapriya et al. · Annals of Neurology · 2008 · 76 citations