
Last Updated: 09/26/2026
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Found 19 publications
Isolated bull's eye maculopathy in two siblings with biallelic TULP1 variants.
Journal: Ophthalmic genetics
Published: March 30, 2026
Ȧland Island eye disease in two patients harboring novel CACNA1F variants.
Journal: Ophthalmic genetics
Published: May 22, 2025
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Journal: American journal of human genetics
Published: May 15, 2024
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Journal: American journal of human genetics
Published: April 04, 2023
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Journal: Human mutation
Published: June 03, 2021
Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 18, 2019
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 22, 2019
Ciliochoroidal effusion syndrome with central serous-like chorioretinopathy and secondary angle closure following exogenous testosterone use.
Journal: American journal of ophthalmology case reports
Published: July 25, 2018
RAPID PROGRESSION OF FOVEOMACULAR RETINOSCHISIS IN YOUNG MYOPICS.
Journal: Retina (Philadelphia, Pa.)
Published: May 11, 2018
RETINAL NEOVASCULARIZATION FROM A PATIENT WITH CUTIS MARMORATA TELANGIECTATICA CONGENITA.
Journal: Retinal cases & brief reports
Published: March 16, 2018
Association of Metformin Treatment with Reduced Severity of Diabetic Retinopathy in Type 2 Diabetic Patients.
Journal: Journal of diabetes research
Published: December 12, 2017
Last Updated: 09/26/2026