Eirik Bratland
Overview
Explore the profile of Eirik Bratland including associated specialties, affiliations and a list of published articles.
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46
Citations
535
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Recent Articles
1.
Aslaksen S, Aukrust I, Molday L, Holtan J, Jansson R, Berland S, et al.
Invest Ophthalmol Vis Sci
. 2024 Aug;
65(10):2.
PMID: 39087934
Purpose: Biallelic pathogenic variants in the gene encoding the ATP-binding cassette transporter ABCA4 are the leading cause of irreversible vision loss in inherited retinal dystrophies (IRDs). Interpretation of ABCA4 variants...
2.
Kentistou K, Kaisinger L, Stankovic S, Vaudel M, Mendes de Oliveira E, Messina A, et al.
Nat Genet
. 2024 Jul;
56(8):1763-1764.
PMID: 38982295
No abstract available.
3.
Kentistou K, Kaisinger L, Stankovic S, Vaudel M, Mendes de Oliveira E, Messina A, et al.
Nat Genet
. 2024 Jul;
56(7):1397-1411.
PMID: 38951643
Pubertal timing varies considerably and is associated with later health outcomes. We performed multi-ancestry genetic analyses on ~800,000 women, identifying 1,080 signals for age at menarche. Collectively, these explained 11%...
4.
Houge G, Bratland E, Aukrust I, Tveten K, Zukauskaite G, Sansovic I, et al.
Eur J Hum Genet
. 2024 May;
32(7):858-863.
PMID: 38778080
The ABC and ACMG variant classification systems were compared by asking mainly European clinical laboratories to classify variants in 10 challenging cases using both systems, and to state if the...
5.
Artaza H, Eriksson D, Lavrichenko K, Aranda-Guillen M, Bratland E, Vaudel M, et al.
Front Immunol
. 2024 Apr;
15:1374499.
PMID: 38562931
Autoimmune Addison's disease (AAD) is a rare but life-threatening endocrine disorder caused by an autoimmune destruction of the adrenal cortex. A previous genome-wide association study (GWAS) has shown that common...
6.
Hoem G, Pastore A, Bratland E, Christoffersen T, Stornaiuolo M, Douzgou S
Clin Genet
. 2024 Feb;
105(6):661-665.
PMID: 38361102
Familial exudative vitreoretinopathy (FEVR) is linked to disruption of the Norrin/Frizzled-4 signaling pathway, which plays an important role in retinal angiogenesis. Severe or complete knock-down of proteins in the pathway...
7.
Vogt E, Bratland E, Berland S, Berentsen R, Lund A, Bjornsdottir S, et al.
Hum Reprod
. 2023 Nov;
39(1):177-189.
PMID: 37953503
Study Question: Is it possible to find the cause of primary ovarian insufficiency (POI) in more women by extensive screening? Summary Answer: Adding next generation sequencing techniques including a POI-associated...
8.
Oftedal B, Berger A, Bruserud O, Goldfarb Y, Sulen A, Breivik L, et al.
J Clin Invest
. 2023 Nov;
133(21).
PMID: 37909333
Autoimmune polyendocrine syndrome type 1 (APS-1) is caused by mutations in the autoimmune regulator (AIRE) gene. Most patients present with severe chronic mucocutaneous candidiasis and organ-specific autoimmunity from early childhood,...
9.
Kentistou K, Kaisinger L, Stankovic S, Vaudel M, de Oliveira E, Messina A, et al.
medRxiv
. 2023 Jul;
PMID: 37503126
Pubertal timing varies considerably and has been associated with a range of health outcomes in later life. To elucidate the underlying biological mechanisms, we performed multi-ancestry genetic analyses in ~800,000...
10.
Tkemaladze T, Bratland E, Bregvadze K, Shatirishvili T, Tatishvili N, Abzianidze E, et al.
Clin Dysmorphol
. 2023 May;
32(3):97-105.
PMID: 37195326
MSMO1 deficiency (OMIM #616834) is an ultrarare autosomal recessive disorder of distal cholesterol metabolism with only five cases reported to date. The disorder is caused by missense variants in the...