Author

Henrike L. Sczakiel

Humboldt-Universität zu BerlinORCID 0000-0003-3836-163XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Assay:imaging· 1

Frequent Co-Authors

Alexej KnausiD· 2 shared Felix BoschanniD· 2 shared Hannah KlinkhammeriD· 2 shared Hellen LesmanniD· 2 shared Jean Tori PanteliD· 2 shared Luisa AverdunkiD· 2 shared Magdalena DanyeliD· 2 shared Martin A. MensahiD· 2 shared

Activity by Year

2023-2023 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alexej KnausORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJun 19, 2023

A Novel Autosomal Dominant Childhood-Onset Disorder Associated with Pathogenic Variants in VCP

Annelise Yoo Mah-Som, Jil Daw, Diana Huynh…·Marwan S. Shinawi

The paper identifies novel VCP variants causing a childhood-onset neurodevelopmental disorder through exome sequencing and functional analysis.

DOI 10.1101/2023.06.19.23291232

humanwhole-exome sequencing

𝕏 PostBluesky

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

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintApr 19, 2023

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann…·Lilian Tamara Kaufmann

The paper evaluates a structured diagnostic framework for ultra-rare diseases, showing improved genetic diagnoses and novel gene-disease associations using exome sequencing and AI tools.

12 citations

humanwhole-exome sequencing

𝕏 PostBluesky