NRL-Regulated Transcriptome Dynamics of Developing Rod Photoreceptors

Jung-Woong Kim, Hyun‐Jin Yang, Matthew J. Brooks, +15

Cell Reports

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, +10

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderAshkenazi JewsGeneticsMissense Mutation +5

Gene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 Achromatopsia

Eyal Banin, E. Gootwine, Alexey Obolensky, +10

Molecular Therapy

Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa

Dikla Bandah‐Rozenfeld, Rob W.J. Collin, Eyal Banin, +18

The American Journal of Human Genetics

Genome InstabilityMendelian DisorderGenetic DisorderGeneticsPathology +4

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

Susanne Roosing, Klaus Rohrschneider, Avigail Beryozkin, +16

The American Journal of Human Genetics

Developmental BiologyMendelian DisorderGenetic DisorderGeneticsFarnesylated Small Gtpase +6

A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome

Samer Khateb, Lina Zelinger, Liliana Mizrahi‐Meissonnier, +6

Journal of Medical Genetics

Mutations in ARL2BP, Encoding ADP-Ribosylation-Factor-Like 2 Binding Protein, Cause Autosomal-Recessive Retinitis Pigmentosa

Alice E. Davidson, Nele Schwarz, Lina Zelinger, +17

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsEncoding Adp-ribosylation-factor-like 2Binding Protein +6

Genetics and Disease Expression in the CNGA3 Form of Achromatopsia

Lina Zelinger, Artur V. Cideciyan, Susanne Kohl, +13

Ophthalmology

Autoimmune DiseaseGenetic DisorderGeneticsPathologyDisease Expression +3

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

Avigail Beryozkin, Lina Zelinger, Dikla Bandah‐Rozenfeld, +8

Investigative Ophthalmology & Visual Science

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, +8

Investigative Ophthalmology & Visual Science