The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates

Gene therapy beyond luxturna

(2020) Dominic A. Prado et al.   CURRENT OPINION IN OPHTHALMOLOGY

The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate

(2020) Jane S. Green et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Oculome panel test: next-generation sequencing to diagnose a diverse range of genetic developmental eye disorders

(2019) Aara Patel et al.   OPHTHALMOLOGY

HOMOZYGOSITY FOR A NOVEL DOUBLE MUTANT ALLELE (G1961E/L857P) UNDERLIES CHILDHOOD-ONSET ABCA4-RELATED RETINOPATHY IN THE UNITED ARAB EMIRATES

(2019) Arif O. Khan   RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES

PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES

(2019) Arif O. Khan   RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES

Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish

(2019) Maria Toms et al.   EXPERIMENTAL EYE RESEARCH

Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy

(2018) Cécile Méjécase et al.   CLINICAL GENETICS

Genetic modifiers as relevant biological variables of eye disorders

(2017) Kacie J. Meyer et al.   HUMAN MOLECULAR GENETICS

AAV8 Can Induce Innate and Adaptive Immune Response in the Primate Eye

(2017) Felix F. Reichel et al.   MOLECULAR THERAPY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Whole-Exome Sequencing Identifies KIZ as a Ciliary Gene Associated with Autosomal-Recessive Rod-Cone Dystrophy

(2014) Said El Shamieh et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Consanguinity and Dysmorphology in Arabs

(2014) Lihadh Al-Gazali et al.   HUMAN HEREDITY

Mutational Analysis of SDCCAG8 in Bardet-Biedl Syndrome Patients with Renal Involvement and Absent Polydactyly

(2012) Gail Billingsley et al.   OPHTHALMIC GENETICS

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

(2010) Edgar A Otto et al.   NATURE GENETICS