Author

Steffen Hirsch

University Hospital HeidelbergORCID 0000-0002-4920-0930Unclaimed 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· 2 Research Focus:cell type annotation· 1 Research Focus:clustering· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alise K. BlakeiD· 1 shared Barbara C. JonesiD· 1 shared Birgit Weiß· 1 shared Bjoern Saemann· 1 shared Christian Patrick SchaafiD· 1 shared Christian Peter KratziD· 1 shared Christopher PrevitiiD· 1 shared David JonesiD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 22 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alise K. BlakeORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 30, 2026

Recessive loss-of-function and dominant gain-of-function variants in FBXO31 are associated with distinct neurodevelopmental disorders

Jonas Bohnlein, Birgit Weiß, Steffen Hirsch…·Sebastian Sailer

The paper identifies two distinct FBXO31 variants causing different neurodevelopmental disorders: a dominant gain-of-function variant and a recessive loss-of-function deletion.

DOI 10.64898/2026.09.24.26363382

human

𝕏 PostBluesky

Genetic & Genomic MedicineJournal of Clinical OncologyPeer-reviewedOct 9, 2025

Germline variation in DNA damage repair genes in children with cancer: Unveiling SMARCAL1 as novel osteosarcoma predisposition gene

Ninad Oak, Wenan Chen, Alise K. Blake…·Richa Sharma

The paper identifies SMARCAL1 as a novel predisposition gene for osteosarcoma by analyzing germline variants in DNA damage repair genes across childhood cancer cases.

10 citationstop 3%

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineClinical GeneticsPeer-reviewedJan 14, 2024

Hao-Fountain Syndrome: 32 novel patients reveal new insights into the clinical spectrum

Moritz Claudius Wimmer, Heiko Brennenstuhl, Steffen Hirsch…·Christian Patrick Schaaf

This study reports on 32 novel patients with Hao-Fountain syndrome, expanding the clinical understanding of the disorder and identifying new phenotypic features and genotype-phenotype correlations.

20 citationstop 3%

humanstatistical model

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