Author

Maike Karnstedt

University Hospital LeipzigORCID 0009-0009-0619-7493Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:variant calling· 2 Approach:Bayesian inference· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Denny Popp· 2 shared Anna-Lisa Schween· 1 shared Bernt PoppiD· 1 shared Henry OppermanniD· 1 shared Isabell SchumanniD· 1 shared Johannes R. LemkeiD· 1 shared John Wiedenhöft· 1 shared Julia HentscheliD· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Denny Popp

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 2, 2025

The Refined Recurrence Risk of De Novo variants Due to Parental Mosaicism

Sonja Neuser, Natalie Ahmad, Denny Popp…·Rami Abou Jamra

The paper assesses parental mosaicism in families with de novo variants, finding 4.4% parental mosaicism and proposing amplicon-based sequencing for improved recurrence risk assessment.

3 citations

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineHuman MutationPeer-reviewedJan 1, 2025

Incorporating Nanopore Sequencing into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti

Simone Ahting, Denny Popp, Henry Oppermann…·Isabell Schumann

The paper uses nanopore sequencing to accurately phase a heterozygous deletion in the IKBKG gene in an IP family, confirming its location and X-inactivation status.

2 citations

humanwhole-exome sequencing

𝕏 PostBluesky