Karen Gronskov

Glostrup, Denmark

Last Updated: 09/26/2026

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Found 75 publications

A nationwide overview of the clinical and genetic landscape of inherited eye disorders in Denmark.

A nationwide overview of the clinical and genetic landscape of inherited eye disorders in Denmark.

Journal: Ophthalmic genetics

Published: June 11, 2026

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy.

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy.

Journal: Clinical genetics

Published: May 11, 2026

Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR.

Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR.

Journal: European journal of human genetics : EJHG

Published: March 18, 2025

Whole genome sequencing of 10 families with optic disc drusen.

Whole genome sequencing of 10 families with optic disc drusen.

Journal: Ophthalmic genetics

Published: January 27, 2025

Childhood Cancer Predisposition and Evolutionary Constraints: Novel Lessons from Germline Genomes from 1,127 Children with Cancer.

Childhood Cancer Predisposition and Evolutionary Constraints: Novel Lessons from Germline Genomes from 1,127 Children with Cancer.

Journal: Clinical cancer research : an official journal of the American Association for Cancer Research

Published: January 18, 2025

Concomitant Upd(14)mat and Trisomy 14 Mosaicism in a Newborn Detected by Whole Genome Sequencing.

Concomitant Upd(14)mat and Trisomy 14 Mosaicism in a Newborn Detected by Whole Genome Sequencing.

Journal: Clinical genetics

Published: November 12, 2024

Macular retinal nerve fiber layer thickness in retinitis pigmentosa patients with and without optic disc drusen.

Macular retinal nerve fiber layer thickness in retinitis pigmentosa patients with and without optic disc drusen.

Journal: Frontiers in ophthalmology

Published: August 06, 2024

Prevalence Screening for Familial Optic Disc Drusen: A Cross-Sectional Study.

Prevalence Screening for Familial Optic Disc Drusen: A Cross-Sectional Study.

Journal: Neuro-ophthalmology (Aeolus Press)

Published: July 17, 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

Optic Disc Drusen Prevalence in Patients With Retinitis Pigmentosa: A Cross-Sectional Study.

Optic Disc Drusen Prevalence in Patients With Retinitis Pigmentosa: A Cross-Sectional Study.

Journal: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society

Published: November 17, 2023

Phenotypic characteristics of Danish patients with achromatopsia.

Phenotypic characteristics of Danish patients with achromatopsia.

Journal: Acta ophthalmologica

Published: October 04, 2023

Long-term risk of glaucoma after cataract surgery in childhood.

Long-term risk of glaucoma after cataract surgery in childhood.

Journal: Acta ophthalmologica

Published: August 10, 2023

Showing 1-12 of 75

Last Updated: 09/26/2026