Prasanthi Namburi

A common variant near TGFBR3 is associated with primary open angle glaucoma

Zheng Li, R. Rand Allingham, Masakazu Nakano et al. · Human Molecular Genetics · 2015 · 119 citations · Full text

Life Sciences, Genetics, Ophthalmology +14

ABCB6 Mutations Cause Ocular Coloboma

Lejing Wang, Fei He, Juan Bu et al. · The American Journal of Human Genetics · 2012 · 88 citations · Full text

Medicine, Genetics, Ophthalmology +11

Bi-allelic Truncating Mutations in CEP78 , Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss

Prasanthi Namburi, Rinki Ratnapriya, Samer Khateb et al. · The American Journal of Human Genetics · 2016 · 45 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in<i>ALMS1</i>and<i>DYSF</i>

Csilla H. Lazar, Adva Kimchi, Prasanthi Namburi et al. · Human Mutation · 2015 · 28 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis

Hanna Wimberg, Dorit Lev, Keren Yosovich et al. · Frontiers in Molecular Neuroscience · 2018 · 28 citations · Full text

Medicine, Genetics, Molecular Genetics +15