Karen Grønskov

6PUBLICATIONS
41CO-AUTHORS
Anthropological geneticsCancer geneticsOptical technologyGene expression (incl. microarray and other genome-wide approaches)
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Publications (6)

|Mar 11, 2026
Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR.

Muhammad Farooq, Gitte Hoffmann Bruun, Menachem V K Sarusie

|Aug 15, 2025
Childhood Cancer Predisposition and Evolutionary Constraints: Novel Lessons from Germline Genomes from 1,127 Children with Cancer.

Ulrik Kristoffer Stoltze, Thomas van Overeem Hansen, Jon Foss-Skiftesvik

|Feb 22, 2021
Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.

Line Kessel, Birgit Kjer, Ulrikke Lei

|Jan 28, 2021
Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)-an update.

Abdullah Aamir, Helen J Kuht, Karen Grønskov

|Feb 06, 2019
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Cathrine Jespersgaard, Mingyan Fang, Mette Bertelsen

|Jan 26, 2019
A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1.

Karen Grønskov, Cathrine Jespersgaard, Gitte Hoffmann Bruun

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Frequent Collaborators

2 joint publications

Brage Storstein Andresen

2 joint publications

Thomas Rosenberg

1 joint publications

Lisbeth Birk Møller

1 joint publications

Mervyn G Thomas