Heiko Brennenstuhl

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

Board-certified pediatrician and physician scientist leading a Research Group in genomic newborn screening at the Institute of Human Genetics, Heidelberg University. Trained in human genetics after a residency in general pediatrics and a postdoctoral fellowship in neurometabolic disease. Clinical and research stays across Germany, the United States, the United Kingdom, China, and Switzerland, including a DAAD-funded fellowship at Brown University. MBA in health care management and a medical degree from Tübingen.

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. Spokesperson for the GfH commission on genomic newborn screening.

Diagnostics

Rare Disease Diagnostics

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

Recent Publications

56 total View all ↗
Year Title / Authors / Journal Links
2026
Brennenstuhl H, Hempel M
Neonatologie – Die Medizin des Früh- und Reifgeborenen
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