Heiko Brennenstuhl

Junior Research Group Leader, Genomic Newborn Screening · Institute of Human Genetics · University Hospital Heidelberg

Physician scientist with board certification in pediatrics and advanced training in human genetics, specializing in genomic diagnostics and early screening for rare diseases. Working at the interface of clinical care, genomics, and health systems. International clinical experience across Europe, the United States, and Asia; MBA with focus on health management.

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Research Focus

Genomic Newborn Screening

Population-scale genomic screening for early detection of rare diseases in newborns. Evaluating clinical utility, implementation, and health system integration.

Rare Disease Diagnostics

Shortening the diagnostic odyssey through WGS and multi-omics integration into clinical workflows. Focus on actionable findings and variant interpretation.

Health Systems & Translation

Translational research bridging genomics and health policy. Health technology assessment, implementation science, and strategic health management.

Recent Publications

showing 5 of 53

Year	Title / Authors / Journal	Links
2026	A multi-dimensional framework for establishing and managing a genomic newborn screening program Schnabel-Besson E, Dikow N, Alex K, Mütze U, Straub H, Doll ES, Mahal J, Brennenstuhl H, Mayer CJ, Neth L, Hagedorn T, Högl H, Settegast S, Ditzen B, Müller-Terpitz R, Kölker S, Schaaf CP, Winkler E European journal of human genetics : EJHG	DOI ↗ PubMed ↗
2026	A population representative survey on attitudes towards genomic newborn screening in Germany Elena Sophia Doll, Karla Alex, Carlotta Julia Mayer, Heiko Brennenstuhl, Ulrike Mütze, Hadley Stevens Smith, Charlotte Raithel, Elmar Brähler, Ralf Müller-Terpitz, Stefan Kölker, Christian P. Schaaf, Eva C. Winkler, Beate Ditzen, Julia Mahal Genetics in Medicine Open	DOI ↗
2026	Dynamic allele usage of X-linked genes ameliorates neurodevelopmental disease phenotypes in brain organoids Bertin M, Todorov H, Frank S, Käseberg S, Menon R, Gabassi E, Foerster C, Bobon N, Furlanetto F, Soliman A, Ibrahim HMB, Engelhardt V, Birschmann L, Brennenstuhl H, Lohrer B, Mas-Sanchez A, Cesare E, Winter J, Krummeich J, Winkler J, Winner B, Weis E, Diederich S, Luck K, Lunt P, Gerber S, Baumann P, Elvassore N, Berninger B, Basilicata MF, Schweiger S, Falk S, Karow M Nature communications	DOI ↗ PubMed ↗
2025	How do parents decide on genetic testing in pediatrics? A systematic review Doll ES, Lerch SP, Schmalenberger KM, Alex K, Kölker S, Brennenstuhl H, Pereira S, Smith H, Winkler EC, Mahal J, Ditzen B Genetics in medicine : official journal of the American College of Medical Genetics	DOI ↗ PubMed ↗
2025	The Natural Course of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome Valentin I, Caro P, Fischer C, Brennenstuhl H, Schaaf CP Clinical genetics	DOI ↗ PubMed ↗

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