Devorah Marks-Ohana

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

Whole Exome Sequencing Reveals GUCY2D as a Major Gene Associated With Cone and Cone-Rod Dystrophy in Israel

Csilla H. Lazar, Mousumi Mutsuddi, Adva Kimchi et al. · Investigative Ophthalmology & Visual Science · 2014 · 34 citations · Full text

Medicine, Genetics, Molecular Genetics +16

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