Concepedia

Hemant Bengani

HB

Statistics

Publications

13

Citations

1K

H-Index

13

Active since

2012

Affiliations

University of Edinburgh(Current)

Institute of Genetics and Cancer

Western General Hospital

University of Oxford

University College London

Hemant Bengani is an author at University of Edinburgh specializing in life sciences, genetics, and molecular genetics.

ORCID

Publications per year

2012–2018

13

Publications

13

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Morad Ansari, Gemma Poke, Quentin R. V. Ferry et al. · Journal of Medical Genetics · 2014 · 171 citations · Full text

, , +16

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Natalie D. Shaw, Harrison Brand, Zachary A Kupchinsky et al. · Nature Genetics · 2017 · 162 citations · Full text

, , +12

BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome

Gabrielle Olley, Morad Ansari, Hemant Bengani et al. · Nature Genetics · 2018 · 139 citations · Full text

, , +5

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 · 104 citations · Full text

, , +17

Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations

Joe Rainger, Davut Pehli̇van, Stefan Johansson et al. · The American Journal of Human Genetics · 2014 · 89 citations · Full text

, , +16

1–5 of 13