Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma

Q1

OPHTHALMOLOGY (ISSN: 01616420) , vol. 124 , pp. 992-1003

Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark

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EUROPEAN JOURNAL OF HUMAN GENETICS (ISSN: 10184813) , vol. 24 , pp. 1071-1079

Mutations in AGBL5, encoding a-tubulin deglutamylase, are associated with autosomal recessive retinitis pigmentosa

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INVESTIGATIVE OPHTHALMOLOGY AND VISUAL SCIENCE (ISSN: 01460404) , vol. 57 , pp. 6180-6187

The pros and cons of vertebrate animal models for functional and therapeutic research on inherited retinal dystrophies

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PROGRESS IN RETINAL AND EYE RESEARCH (ISSN: 13509462) , vol. 48 , pp. 137-159

Novel insights into the molecular pathogenesis of cyp4v2-associated bietti’s retinal dystrophy

NQ

MOLECULAR GENETICS AND GENOMIC MEDICINE , vol. 3 , pp. 14-29.

Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family

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MOLECULAR VISION , vol. 18 , pp. 2411-2419

Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping

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MOLECULAR VISION , vol. 17 , pp. 3013-3024