Author

Karl Xaver Knaup

Friedrich-Alexander-Universität Erlangen-NürnbergORCID 0000-0003-1803-4463Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

André ReisiD· 2 shared Michael Sean WieseneriD· 2 shared Adi MoryiD· 1 shared Anlu CheniD· 1 shared Antje WieseneriD· 1 shared Antonio BerguaiD· 1 shared Arif Bülent EkiciiD· 1 shared Bernt PoppiD· 1 shared

Activity by Year

2019-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

André ReisORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedSep 13, 2022

Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study

Bernt Popp, Arif Bülent Ekici, Karl Xaver Knaup…·Michael Sean Wiesener

The paper identifies pathogenic variants in tubulointerstitial kidney disease genes in 12.5% of a CKD cohort using targeted sequencing and clinical criteria.

22 citations

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsPLoS GeneticsPeer-reviewedApr 29, 2019

Mutations In PIK3C2A Cause Syndromic Short Stature, Skeletal Abnormalities, and Cataracts Associated With Ciliary Dysfunction

Dov Tiosano, Hagit N. Baris, Anlu Chen…·David A. Buchner

The paper identifies homozygous mutations in PIK3C2A causing a new Mendelian disorder with short stature, skeletal abnormalities, cataracts, and ciliary dysfunction.

67 citationstop 3%

humanstatistical model

𝕏 PostBluesky