Author

Claudia Perne

University of BonnORCID 0000-0001-6131-2065Unclaimed 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:cell type annotation· 1 Approach:deep learning· 1 Research Focus:differential expression· 1 Assay:imaging· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alexej KnausiD· 2 shared Axel SchmidtiD· 2 shared Christian Patrick SchaafiD· 2 shared Elisabeth MangoldiD· 2 shared Hannah KlinkhammeriD· 2 shared Hartmut EngelsiD· 2 shared Hellen LesmanniD· 2 shared Jean Tori PanteliD· 2 shared

Activity by Year

2022-2023 · peak 1/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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2 papers

Recent·Most cited

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

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Genetic & Genomic MedicineNature GeneticsPeer-reviewedFeb 10, 2022

GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors

Tzung‐Chien Hsieh, Aviram Bar-Haim, Shahida Moosa…·Peter Michael Krawitz

GestaltMatcher improves diagnosis of ultra-rare genetic disorders by matching facial phenotypes to molecular diagnoses using a deep learning model trained on a large dataset of patient photographs.

233 citationstop 1%

humanimaging

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