Simon von Ameln

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

Davor Lessel, Bruno Vaz, Swagata Halder et al. · Nature Genetics · 2014 · 247 citations

Medicine, Genetics, Molecular Genetics +14

Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid

Kathrin Laue, Hans‐Martin Pogoda, Philip B. Daniel et al. · The American Journal of Human Genetics · 2011 · 186 citations · Full text

Dentistry, Biology, Developmental Biology +17

Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42

Guntram Borck, Atteeq U. Rehman, Kwanghyuk Lee et al. · The American Journal of Human Genetics · 2011 · 120 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Functional Characterization of the <i>GUCY1A3</i> Coronary Artery Disease Risk Locus

Thorsten Kessler, Jana Wobst, Bernhard Wolf et al. · Circulation · 2017 · 103 citations · Full text

Medicine, Cardiology, Genetics +17

A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss

Simon von Ameln, Geng Wang, Redouane Boulouiz et al. · The American Journal of Human Genetics · 2012 · 97 citations · Full text

Life Sciences, Genetics, Molecular Biology +14