Last Updated: 09/26/2026
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Found 22 publications
Blue cone monochromacy with parafoveal hyperautofluorescent ring caused by a novel OPN1LW p.Ile109Asn variant.
Journal: Documenta ophthalmologica. Advances in ophthalmology
Published: March 15, 2026
Panretinal Congenital Hypertrophy of the RPE in an 8-Year-Old Girl with an X-Linked STAG2 Mutation.
Journal: Journal of clinical medicine
Published: June 25, 2025
Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome.
Journal: medRxiv : the preprint server for health sciences
Published: November 28, 2024
Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome.
Journal: Research square
Published: November 28, 2024
Variants in NR6A1 cause a novel oculo vertebral renal syndrome.
Journal: Nature communications
Published: November 09, 2024
Venous Tortuosity in COL4A2-Associated Gould Syndrome.
Journal: Ophthalmic surgery, lasers & imaging retina
Published: August 29, 2023
Analysis of CRB1 Pathogenic Variants Correctable with CRISPR Base and Prime Editing.
Journal: Advances in experimental medicine and biology
Published: July 13, 2023
A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility.
Journal: Documenta ophthalmologica. Advances in ophthalmology
Published: February 27, 2023
Clinical and Therapeutic Evaluation of the Ten Most Prevalent CRB1 Mutations.
Journal: Biomedicines
Published: December 23, 2022
Publisher Correction: Marfan syndrome.
Journal: Nature reviews. Disease primers
Published: January 18, 2022
Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency.
Journal: Orphanet journal of rare diseases
Published: June 04, 2020
Last Updated: 09/26/2026