Abhijit Dixit

Mutations in<i>CCDC</i><i>39</i>and<i>CCDC</i><i>40</i>are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

Dinu Antony, Anita Becker-Heck, Maimoona A. Zariwala et al. · Human Mutation · 2012 · 190 citations · Full text

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Sara Cuvertino, Helen M. Stuart, Kate Chandler et al. · The American Journal of Human Genetics · 2017 · 135 citations · Full text

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

Meriel McEntagart, Kathleen A. Williamson, Jacqueline K. Rainger et al. · The American Journal of Human Genetics · 2016 · 101 citations · Full text

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes et al. · The American Journal of Human Genetics · 2019 · 97 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Heterozygous Variants +8

Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals

Claire Forde, Derek Lim, Yousef Alwan et al. · European Urology Oncology · 2019 · 90 citations · Full text