Avigail Beryozkin

A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews

Lina Zelinger, Eyal Banin, Alexey Obolensky et al. · The American Journal of Human Genetics · 2011 · 139 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa

Rıza Köksal Özgül, Anna M. Siemiatkowska, Connie A. Myers et al. · The American Journal of Human Genetics · 2011 · 116 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy

Susanne Roosing, Klaus Rohrschneider, Avigail Beryozkin et al. · The American Journal of Human Genetics · 2013 · 98 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies

Avigail Beryozkin, Elia Shevah, Adva Kimchi et al. · Scientific Reports · 2015 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Identification of Mutations Causing Inherited Retinal Degenerations in the Israeli and Palestinian Populations Using Homozygosity Mapping

Avigail Beryozkin, Lina Zelinger, Dikla Bandah‐Rozenfeld et al. · Investigative Ophthalmology & Visual Science · 2014 · 56 citations

Life Sciences, Genetics, Molecular Genetics +15