Author

Karen Grønskov

Glostrup HospitalORCID 0000-0002-2341-1326Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:cell type annotation· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Lars Allan LarseniD· 2 shared Line KesseliD· 2 shared Menachem Viktor SarusieiD· 2 shared Brage Storstein AndreseniD· 1 shared Cathrine Jespersgaard· 1 shared Cecilia Rönnbäck· 1 shared Gitte Hoffmann BruuniD· 1 shared Hamna Akhtar· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Lars Allan LarsenORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedMar 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 Viktor Sarusie…·Karen Grønskov

The paper reports molecular genetic diagnoses for 28 consanguineous OCA families and identifies a pathogenic deep intron variant in TYR that causes OCA through pseudoexon inclusion.

3 citationstop 2%

humanstatistical model

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Genetic & Genomic MedicinemedRxivPreprintNov 9, 2022

Loss of GFAP causes retinal dysplasia and vision impairment

Menachem Viktor Sarusie, Cecilia Rönnbäck, Cathrine Jespersgaard…·Karen Grønskov

The paper identifies a loss-of-function GFAP variant causing retinal dysplasia and vision impairment in a family, revealing a novel role for GFAP in eye development.

DOI 10.1101/2022.11.09.22282105

humanzebrafish

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