Sophia Peters

机构：University of Bonn, University Hospital Bonn · ORCID：0000-0001-8909-5541

发表论文 53 篇 · 总被引 1098 次 · h-index 15

代表论文

• GestaltMatcher facilitates rare disease matching using facial phenotype descriptors (2022 · Nature Genetics · 被引 221)
• TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19 (2021 · npj Genomic Medicine · 被引 62)
• Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings (2024 · Nature Genetics · 被引 49)
• Twist exome capture allows for lower average sequence coverage in clinical exome sequencing (2023 · Human Genomics · 被引 33)
• A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (2024 · The American Journal of Human Genetics · 被引 15)
• Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings (2023 · medRxiv · 被引 15)