Jane H. Frederiksen
Copenhagen, Denmark
Last Updated: 09/26/2026
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Found 12 publications
Childhood Cancer Predisposition and Evolutionary Constraints: Novel Lessons from Germline Genomes from 1,127 Children with Cancer.
Journal: Clinical cancer research : an official journal of the American Association for Cancer Research
Published: January 18, 2025
Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional Data.
Journal: Molecular genetics & genomic medicine
Published: June 17, 2024
Identification of a novel pathogenic deep intronic variant in PTEN resulting in pseudoexon inclusion in a patient with juvenile polyps.
Journal: Journal of human genetics
Published: March 31, 2023
Survival, surveillance, and genetics in patients with Peutz-Jeghers syndrome: A nationwide study.
Journal: Clinical genetics
Published: January 18, 2023
The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification.
Journal: Molecular genetics & genomic medicine
Published: January 05, 2023
Galectin-7 reprograms skin carcinogenesis by fostering innate immune evasive programs.
Journal: Cell death and differentiation
Published: April 20, 2022
Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.
Journal: International journal of molecular sciences
Published: June 04, 2021
New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.
Journal: Frontiers in genetics
Published: May 27, 2020
A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families.
Journal: Hereditary cancer in clinical practice
Published: December 17, 2019
A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 27, 2018
Human DNA polymerase delta double-mutant D316A;E318A interferes with DNA mismatch repair in vitro.
Journal: Nucleic acids research
Published: May 29, 2016
Increased deoxythymidine triphosphate levels is a feature of relative cognitive decline.
Journal: Mitochondrion
Published: July 13, 2015
Showing 1-12 of 12
Last Updated: 09/26/2026