Perne, Claudia

Top Publications

Top Publications Authored or Co-Authored by "Perne, Claudia"

• GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

  Nature Genetics, Volume 54, No. 3, Year 2022, Citations 69
• Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency

  Gastroenterology, Volume 164, No. 4, Year 2023, Citations 47
• Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study

  The Lancet Oncology, Volume 22, No. 7, Year 2021, Citations 45
• A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes

  Human Mutation, Volume 40, No. 5, Year 2019, Citations 35