Researchclopedia

Research Researchers Institutions Topics Submit About

Command Palette

Search for a command to run...

Researchclopedia

Research Researchers Institutions About

© 2026 Researchclopedia. Powered by OpenAlex under CC0 license.

Back to research

Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

2008309 citationsJournal Articlebronze Open Access

Authors

Rosemary Burgess · University of Manchester

I. D. Millar · University of Manchester

Bart P. Leroy · Ghent University Hospital

Jill Urquhart · University of Manchester

Ian M. Fearon · University of Manchester

Elfrida De Baere · Ghent University Hospital

Peter de Nully Brown ·

Topics & Keywords

Retinal Development and Disorders Cellular transport and secretion Retinal Diseases and Treatments

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: The American Journal of Human Genetics

Volume 82, Issue 1, pp. 19-31

DOI: 10.1016/j.ajhg.2007.08.004

Field-Weighted Citation Impact: 8.57

Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans | Researchclopedia

University of Manchester

Anthony G. Robson · Moorfields Eye Hospital NHS Foundation Trust

Genevieve Wright · Moorfields Eye Hospital NHS Foundation Trust

Philippe Kestelyn · Ghent University Hospital

Graham E. Holder · Moorfields Eye Hospital NHS Foundation Trust

Andrew R. Webster · Moorfields Eye Hospital NHS Foundation Trust

Forbes Manson · Manchester Royal Eye Hospital

Graeme C. Black · Manchester Royal Eye Hospital