Author

Hartmut Engels

University of BonnORCID 0000-0003-1007-1809Unclaimed 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 Claudia PerneiD· 2 shared Elisabeth MangoldiD· 2 shared Hannah KlinkhammeriD· 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

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, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike L. Sczakiel, Sarina Schwartzmann, Martin A. Mensah, , 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.

medRxiv · Apr 19, 2023 · PreprintGenetic & Genomic Medicine

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

Tzung‐Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, Nadja Ehmke, Karen Webster Gripp, Jean Tori Pantel, Magdalena Danyel, Martin A. Mensah, Denise Horn, Stanislav Rosnev, Nicole Fleischer, Guilherme Bonini, Alexander Hustinx, Alexander Schmid, Alexej Knaus, , 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.

Nature Genetics · Feb 10, 2022Peer-reviewedGenetic & Genomic Medicine