ORCID 0000-0002-6909-0003

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.

Heiko Brennenstuhl

Research Focus

Genomics

Genomic Newborn Screening

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

Diagnostics

Rare Disease Diagnostics

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

Translation

Health Systems & Translation

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

Recent Publications

55 total View all ↗
Year Title / Authors / Journal Links
2026
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
2026
Doll ES, Alex K, Mayer CJ, Brennenstuhl H, Mütze U, Smith HS, Raithel C, Brähler E, Müller-Terpitz R, Kölker S, Schaaf CP, Winkler EC, Ditzen B, Mahal J
Genetics in medicine open
2026
Burkart S, Sailer S, Körfer D, Marbach F, Spanjaard M, Hirsch S, Brennenstuhl H, Valentin I, Hinderhofer K, Dennig J, Kaufmann L, Schaaf CP, Böckler D, Dikow N, Hempel M, Erhart P
Langenbeck's archives of surgery
2026
Horvath VB, Tsiakas K, Brennenstuhl H, Choukair D, Hammann N, Niesert M, Fichtner A, Prokisch H, Santer R, Wagner M, Hoffmann GF, Weis D, Lenz D
Molecular genetics and metabolism
2026
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