Rıza Köksal Özgül

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Naiara Akizu, Vincent Cantagrel, Maha S. Zaki et al. · Nature Genetics · 2015 · 134 citations · Full text

Cell Autophagy, Mitophagy, Biallelic Mutations +10

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, Didem Yücel et al. · The American Journal of Human Genetics · 2011 · 115 citations · Full text

Mendelian Disorder, Genetic Disorder, Exome Sequencing +11

STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: A novel mutation

Sevil Oskay Halaçlı, Deniz Çağdaş, Çağman Sun-Tan et al. · Clinical Immunology · 2015 · 84 citations

Primary Immunodeficiency, Novel Mutation, Immunogenetics +13

Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey

Andréa Richter, Rıza Köksal Özgül, Virginie Poisson et al. · Neurogenetics · 2004 · 60 citations

Private Sacs Mutations, Mendelian Disorder, Genetic Disorder +6

Association of polymorphisms in APOE, p53, and p21 with primary open-angle glaucoma in Turkish patients.

Emel Sağlar, Doğan Yücel, Banu Bozkurt et al. · PubMed · 2009 · 40 citations