Author

Lilian Tamara Kaufmann

Heidelberg University

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2

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:genome assembly· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Christian Patrick SchaafiD· 2 shared Maja HempeliD· 2 shared Alexandra Marzena Morawiec· 1 shared Alexandra Tibelius· 1 shared Alexej KnausiD· 1 shared Alma Kuechler· 1 shared Amalia-Mihaela Hanßke· 1 shared André Heimbach· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Christian Patrick SchaafORCID

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2 papers

Recent·Most cited

Too rare to be random: genetic finding suggests previously unrecognized path of mutagenesis

Jonas Bohnlein, Johann Georg Maaß, Julia Dennig, Sebastian Burkart, Lilian Tamara Kaufmann, Michelle Brehm, Kirsten Göbel, Annette Kopp‐Schneider, Tim Holland-Letz, Katrin Hinderhofer, Maja Hempel, Christian Patrick Schaaf

The paper identifies a new genotypic configuration in twins with neurodevelopmental disorder, suggesting a previously unrecognized mutagenesis pathway.

medRxiv · Mar 4, 2026 · PreprintGenetic & Genomic Medicine

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