Author

Cordula Knopp

RWTH Aachen UniversityORCID 0000-0002-6126-6078Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:experimental assay· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Clara VelmansiD· 2 shared Matthias BegemanniD· 2 shared Miriam ElbrachtiD· 2 shared Agnar HelgasoniD· 1 shared Agustí Rodríguez‐PalmeroiD· 1 shared Alaa OthmaniD· 1 shared Alessandro Mauro SpinelliiD· 1 shared Alexander HustinxiD· 1 shared

Activity by Year

2019-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Clara VelmansORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedSep 1, 2026

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome

Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M. Nodelman…·Hans Tomas Bjornsson

The paper investigates sex-specific penetrance in PILBOS, showing male overrepresentation and androgen-mediated sexual dimorphism through genetic and mouse model studies.

2 citations

mousehuman

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Genetic & Genomic MedicinemedRxivPreprintJun 6, 2023

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

Hellen Lesmann, Alexander Hustinx, Shahida Moosa…·Miray Karakoyun

The paper introduces the GestaltMatcher Database (GMDB), a global facial phenotypic reference for rare diseases, showing improved NGP performance with diverse ancestry data.

28 citations

humanimaging

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GeneticsJournal of Clinical InvestigationPeer-reviewedJan 8, 2019

Aberrant DEGS1 sphingolipid metabolism impairs central and peripheral nervous system function in humans

Gergely Karsai, Florian Kraft, Natja Haag…·Ingo Kurth

This study identifies a DEGS1 mutation causing sphingolipid metabolism defects, leading to neurological disorders and suggests dietary intervention as a potential treatment.

121 citations

humanwhole-exome sequencing

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