Ulf Birkedal
Copenhagen, Denmark
Last Updated: 09/26/2026
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Found 15 publications
Long-read sequencing resolves TP53 allelic status in myeloid neoplasms.
Journal: Haematologica
Published: December 30, 2025
Functional Analysis and Clinical Data Reclassify the DICER1 c.4206+1G>C Variant, Leading to Exon 22 Skipping, as Likely Pathogenic.
Journal: Clinical genetics
Published: August 26, 2025
The c.1744G > C, p.(Glu582Gln) missense variant in coding exon 14 of APC increases skipping of a natural occurring isoform and causes Familial Adenomatous Polyposis.
Journal: Journal of cancer research and clinical oncology
Published: August 05, 2025
A Novel Case of Biallelic MLH3 Variants in a Patient With Rectal Cancer and Polyps.
Journal: Clinical genetics
Published: October 29, 2024
Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional Data.
Journal: Molecular genetics & genomic medicine
Published: June 17, 2024
Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome.
Journal: American journal of medical genetics. Part A
Published: November 25, 2023
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
Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy.
Journal: Neuromuscular disorders : NMD
Published: January 27, 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
The 23S Ribosomal RNA From Pyrococcus furiosus Is Circularly Permuted.
Journal: Frontiers in microbiology
Published: July 10, 2020
Last Updated: 09/26/2026