Associated Papers
Expanding the genetic spectra of gyrate atrophy of the choroid and retina in a Chinese cohort in Yunnan province.
Gao FJ et al.
Human Genomics, 2025
Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.
Zaslavsky K et al.
Investigative Ophthalmology & Visual Science, 2025
Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.
Balfoort BM et al.
Journal of Inherited Metabolic Disease, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Seaby EG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38245859 (PubMed )
Supplement: NIHMS2042813-supplement-Supplemental_Results.xlsx › Excluded
A possible ocular biomarker for response to hyperornithinemia in gyrate atrophy: the effect of pyridoxine, lysine, and arginine-restricted diet in a patient with advanced disease.
da Palma MM et al.
Ophthalmic Genetics, 2023
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina.
Katagiri S et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2014
Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation.
Renner AB et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2012
Retinal structure, function, and molecular pathologic features in gyrate atrophy.
Sergouniotis PI et al.
Ophthalmology, 2012
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