Arundhati Dev Borman

NMNAT1 mutations cause Leber congenital amaurosis

Marni J. Falk, Qi Zhang, Eiko Nakamaru‐Ogiso et al. · Nature Genetics · 2012 · 196 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5

Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease

Felicity Payne, Koini Lim, Amandine Girousse et al. · Proceedings of the National Academy of Sciences · 2014 · 162 citations · Full text

A Homozygous Mutation in the<i><scp>TUB</scp></i>Gene Associated with Retinal Dystrophy and Obesity

Arundhati Dev Borman, Laura R. Pearce, Donna S. Mackay et al. · Human Mutation · 2013 · 76 citations · Full text

Family Members, Genetics, Genetic Epidemiology +17

Can a community optometrist-based referral refinement scheme reduce false-positive glaucoma hospital referrals without compromising quality of care? The community and hospital allied network glaucoma evaluation scheme (CHANGES)

Rupert Bourne, K. French, Lydia Chang et al. · Eye · 2009 · 65 citations · Full text

Ophthalmology, Outcomes Research, Eye Health +4

RDH12 retinopathy: novel mutations and phenotypic description.

Donna S. Mackay, Arundhati Dev Borman, Phillip Moradi et al. · PubMed · 2011 · 62 citations · Full text