Thomas Rosenberg

Glostrup, 2600, Denmark

Last Updated: 09/26/2026

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Found 44 publications

Novel Blood-Biomarkers to Detect Retinal Neurodegeneration and Inflammation in Diabetic Retinopathy.

Novel Blood-Biomarkers to Detect Retinal Neurodegeneration and Inflammation in Diabetic Retinopathy.

Journal: International journal of molecular sciences

Published: December 19, 2024

A novel GFAP frameshift variant identified in a family with optico-retinal dysplasia and vision impairment.

A novel GFAP frameshift variant identified in a family with optico-retinal dysplasia and vision impairment.

Journal: Human molecular genetics

Published: May 02, 2024

Temporal changes in incidence, prevalence and causes of childhood visual impairment - Learnings from 45 years with the National Danish Registry of Children with Visual Impairment.

Temporal changes in incidence, prevalence and causes of childhood visual impairment - Learnings from 45 years with the National Danish Registry of Children with Visual Impairment.

Journal: Acta ophthalmologica

Published: February 04, 2024

The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.

The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: June 27, 2022

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.

Journal: Human mutation

Published: August 13, 2021

Prevalence of Open-angle Glaucoma in the Faroese Population.

Prevalence of Open-angle Glaucoma in the Faroese Population.

Journal: Journal of glaucoma

Published: April 08, 2021

Oliver McFarlane syndrome: two new cases and a review of the literature.

Oliver McFarlane syndrome: two new cases and a review of the literature.

Journal: Ophthalmic genetics

Published: April 05, 2021

Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.

Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.

Journal: JAMA ophthalmology

Published: October 15, 2020

Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa.

Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa.

Journal: Genes

Published: September 28, 2020

A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium.

A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium.

Journal: Investigative ophthalmology & visual science

Published: February 22, 2020

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.

Journal: Human mutation

Published: December 17, 2018

Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.

Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.

Journal: Human mutation

Published: November 12, 2018

Showing 1-12 of 44

Last Updated: 09/26/2026