Thorkild Terkelsen
Overview
Explore the profile of Thorkild Terkelsen including associated specialties, affiliations and a list of published articles.
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17
Citations
104
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Recent Articles
1.
Dahl-Jessen M, Terkelsen T, Bak R, Jensen U
Genome Res
. 2025 Jan;
35(2):231-241.
PMID: 39805705
Structural variations (SVs) play important roles in genetic diversity, evolution, and carcinogenesis and are, as such, important for human health. However, it remains unclear how spatial proximity of double-strand breaks...
2.
Blechingberg J, Terkelsen T, Jensen U, Ronholt K, Sommerlund M, Vinter H, et al.
Am J Med Genet A
. 2024 Nov;
197(3):e63933.
PMID: 39523677
Hailey-Hailey disease (OMIM#169600) is an autosomal dominantly inherited genodermatosis characterized by erosions in the flexural areas of the body. Hailey-Hailey disease is caused by variants in ATP2C1, but for ~10%...
3.
Gregersen P, Hammarsjo A, Graversen L, Brix N, Lindelof H, Jensen U, et al.
Clin Genet
. 2024 Sep;
107(1):78-82.
PMID: 39239663
The growth and development of the skeleton is regulated by bone morphogenetic proteins of which several are linked to genetic skeletal disorders. So far, no human skeletal malformations have been...
4.
Terkelsen T, Mikkelsen N, Bak E, Vad-Nielsen J, Blechingberg J, Weiss S, et al.
Am J Hum Genet
. 2024 Jan;
111(2):309-322.
PMID: 38272032
Genetic variants that affect mRNA splicing are a major cause of hereditary disorders, but the spliceogenicity of variants is challenging to predict. RNA diagnostics of clinically accessible tissues enable rapid...
5.
Terkelsen T, Hansen T, Herlin M, Djursby M, Nyegaard M, Pedersen I, et al.
Ugeskr Laeger
. 2023 Oct;
185(39).
PMID: 37873989
Polygenic risk scores (PRS) identify at-risk individuals for many common diseases. A discussion of strengths and limitations is carried out in this review. PRS complement traditional genetic testing and have...
6.
Moller N, Boonen D, Feldner E, Hao Q, Larsen M, Laenkholm A, et al.
Sci Rep
. 2023 Sep;
13(1):15294.
PMID: 37714994
No abstract available.
7.
Levitin M, Rawlins L, Sanchez-Andrade G, Arshad O, Collins S, Sawiak S, et al.
Brain
. 2023 Jul;
146(11):4766-4783.
PMID: 37437211
KPTN-related disorder is an autosomal recessive disorder associated with germline variants in KPTN (previously known as kaptin), a component of the mTOR regulatory complex KICSTOR. To gain further insights into...
8.
Moller N, Boonen D, Feldner E, Hao Q, Larsen M, Laenkholm A, et al.
Sci Rep
. 2023 May;
13(1):8536.
PMID: 37237042
BOADICEA is a comprehensive risk prediction model for breast and/or ovarian cancer (BC/OC) and for carrying pathogenic variants (PVs) in cancer susceptibility genes. In addition to BRCA1 and BRCA2, BOADICEA...
9.
Terkelsen T, Brasch-Andersen C, Illum N, Busa T, Missirian C, Chandler K, et al.
Clin Genet
. 2021 Oct;
101(2):208-213.
PMID: 34708403
The YTH domain family member 3 gene (YTHDF3) encodes a reader of the abundant N6-methyladenosine (m A) modification of eukaryotic mRNA, which plays an essential role in regulating mRNA stability...
10.
Terkelsen T, Larsen O, Vang S, Jensen U, Wikman F
Mol Genet Genomic Med
. 2020 Jun;
8(9):e1381.
PMID: 32573125
Background: Pathogenic variants in STK11, also designated as LKB1, cause Peutz-Jeghers syndrome, which is a rare autosomal dominant disorder characterized by mucocutaneous pigmentation changes, polyposis, and a high risk of...