H. Prokisch

发表论文 482 篇 · 总被引 39366 次 · h-index 99

代表论文

• Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function (2022 · Nature Genetics · 被引 124)
• Integrative omics approaches to advance rare disease diagnostics (2023 · Journal of Inherited Metabolic Disease · 被引 29)
• RNA sequencing role and application in clinical diagnostic (2022 · Pediatric Investigation · 被引 28)
• Genetic landscape of pediatric acute liver failure of indeterminate origin (2023 · Hepatology · 被引 26)
• Genetics of mitochondrial diseases: Current approaches for the molecular diagnosis. (2023 · Handbook of Clinical Neurology · 被引 20)
• Variants in ATP5F1B are associated with dominantly inherited dystonia (2023 · Brain : a journal of neurology · 被引 19)