Thorkild Terkelsen

6PUBLICATIONS
11CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)Medical infection agents (incl. prions)Gene mappingCancer genetics
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (6)

|Nov 04, 2025
CRISPR Activation Reveals the Spliceogenicity of an Intronic NEB Variant in Fetuses With Arthrogryposis Multiplex Congenita 6.

Doriana Misceo, Thorkild Terkelsen, Sara Margrete Bøen Keim

|Jan 13, 2025
Characterization of the role of spatial proximity of DNA double-strand breaks in the formation of CRISPR-Cas9-induced large structural variations.

Mikkel Dahl-Jessen, Thorkild Terkelsen, Rasmus O Bak

|Oct 28, 2021
Mono-allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions.

Thorkild Terkelsen, Charlotte Brasch-Andersen, Niels Illum

|Jun 24, 2020
Deleterious mis-splicing of STK11 caused by a novel single-nucleotide substitution in the 3' polypyrimidine tract of intron five.

Thorkild Terkelsen, Ole H Larsen, Søren Vang

|Aug 23, 2019
Population frequencies of pathogenic alleles of BRCA1 and BRCA2: analysis of 173 Danish breast cancer pedigrees using the BOADICEA model.

Thorkild Terkelsen, Lise-Lotte Christensen, Deirdre Cronin Fenton

|Aug 06, 2019
Impact of genetic counseling on the uptake of contralateral prophylactic mastectomy among younger women with breast cancer.

Thorkild Terkelsen, Hanne Rønning, Anne-Bine Skytte

Pageof 1

Frequent Collaborators

3 joint publications

Uffe Birk Jensen

1 joint publications

Ole H Larsen

1 joint publications

Søren Vang

1 joint publications

Friedrik Wikman