Claudia Perne

Bonn, NW, Germany

Last Updated: 09/26/2026

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Found 26 publications

Effect of a polygenic risk score in patients with late-onset, early-onset, familial, or hereditary colorectal cancer.

Effect of a polygenic risk score in patients with late-onset, early-onset, familial, or hereditary colorectal cancer.

Journal: JNCI cancer spectrum

Published: January 07, 2026

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Journal: Nature genetics

Published: June 24, 2025

Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay.

Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay.

Journal: Molecular psychiatry

Published: January 13, 2024

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Journal: Nature genetics

Published: July 19, 2023

MTHFR C677T and A1298C polymorphism's effect on risk of colorectal cancer in Lynch syndrome.

MTHFR C677T and A1298C polymorphism's effect on risk of colorectal cancer in Lynch syndrome.

Journal: Scientific reports

Published: March 11, 2023

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.

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.

Journal: EClinicalMedicine

Published: October 12, 2022

Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence.

Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence.

Journal: BMC medical genomics

Published: September 12, 2022

Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.

Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.

Journal: Gastroenterology

Published: September 08, 2022

Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndrome.

Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndrome.

Journal: Human mutation

Published: April 18, 2022

Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium.

Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium.

Journal: Hereditary cancer in clinical practice

Published: December 03, 2021

No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study.

No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study.

Journal: Journal of clinical medicine

Published: May 24, 2021

Early detection of duodenal cancer by upper gastrointestinal-endoscopy in Lynch syndrome.

Early detection of duodenal cancer by upper gastrointestinal-endoscopy in Lynch syndrome.

Journal: International journal of cancer

Published: April 23, 2021

Showing 1-12 of 26

Last Updated: 09/26/2026