Claudia Perne

机构：University of Bonn, Institute of Human Genetics · ORCID：0000-0001-6131-2065

发表论文 56 篇 · 总被引 1232 次 · h-index 18

代表论文

• GestaltMatcher facilitates rare disease matching using facial phenotype descriptors (2022 · Nature Genetics · 被引 221)
• Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database (2023 · EClinicalMedicine · 被引 120)
• Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium (2022 · Hereditary Cancer in Clinical Practice · 被引 61)
• 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)
• Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence (2023 · BMC Medical Genomics · 被引 33)
• Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency (2022 · Gastroenterology · 被引 27)