Author

Karen Brøndum‐Nielsen

University of CopenhagenORCID 0000-0002-7402-9100Unclaimed 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:cell type annotation· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1 Organism:zebrafish· 1

Frequent Co-Authors

Cathrine Jespersgaard· 1 shared Cecilia Rönnbäck· 1 shared Karen GrønskoviD· 1 shared Kjeld MøllgårdiD· 1 shared Lars Allan LarseniD· 1 shared Line KesseliD· 1 shared Menachem Viktor SarusieiD· 1 shared Sif Baungaard· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Cathrine Jespersgaard

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1 paper

Recent·Most cited

Loss of GFAP causes retinal dysplasia and vision impairment

Menachem Viktor Sarusie, Cecilia Rönnbäck, Cathrine Jespersgaard, Sif Baungaard, Yeasmeen Ali, Line Kessel, Søren T. Christensen, Karen Brøndum‐Nielsen, Kjeld Møllgård, Thomas Rosenberg, Lars Allan Larsen, 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.

medRxiv · Nov 9, 2022 · PreprintGenetic & Genomic Medicine