R. Kopajtich

发表论文 80 篇 · 总被引 4647 次 · h-index 32

代表论文

• Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia (2025 · Brain : a journal of neurology · 被引 30)
• Genetic landscape of pediatric acute liver failure of indeterminate origin (2023 · Hepatology · 被引 27)
• ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures. (2023 · Genetics in Medicine · 被引 18)
• Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy (2024 · American Journal of Human Genetics · 被引 15)
• Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant (2024 · Brain : a journal of neurology · 被引 13)
• De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke. (2023 · Genetics in Medicine · 被引 11)