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Page 1
Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.
Mattioli F, Friðriksdóttir R, Hebert A, Bassani S, Ibrahim N, Naz S, Chrast J, Pailler-Pradeau C, Oddsson Á, Sulem P, Halldorsson GH, Melsted P, Guðbjartsson DF, Palombo F, Pippucci T, Nouri N, Seri M, Farrow EG, Saunders CJ, Guex N, Ansar M, Stefansson K, Reymond A. Mattioli F, et al. Among authors: stefansson k. Genome Med. 2025 Apr 14;17(1):38. doi: 10.1186/s13073-025-01463-3. Genome Med. 2025. PMID: 40229899 Free PMC article.
Combining Polygenic and Proteomic Risk Scores With Clinical Risk Factors to Improve Performance for Diagnosing Absence of Coronary Artery Disease in Patients With de novo Chest Pain.
Møller PL, Rohde PD, Dahl JN, Rasmussen LD, Schmidt SE, Nissen L, McGilligan V, Bentzon JF, Gudbjartsson DF, Stefansson K, Holm H, Winther S, Bøttcher M, Nyegaard M. Møller PL, et al. Among authors: stefansson k. Circ Genom Precis Med. 2023 Oct;16(5):442-451. doi: 10.1161/CIRCGEN.123.004053. Epub 2023 Sep 27. Circ Genom Precis Med. 2023. PMID: 37753640
A comparison of methods for detecting DNA methylation from long-read sequencing of human genomes.
Sigurpalsdottir BD, Stefansson OA, Holley G, Beyter D, Zink F, Hardarson MÞ, Sverrisson SÞ, Kristinsdottir N, Magnusdottir DN, Magnusson OÞ, Gudbjartsson DF, Halldorsson BV, Stefansson K. Sigurpalsdottir BD, et al. Among authors: stefansson oa, stefansson k. Genome Biol. 2024 Mar 11;25(1):69. doi: 10.1186/s13059-024-03207-9. Genome Biol. 2024. PMID: 38468278 Free PMC article.
On the Road to Disclose the Pathogenesis of Pericarditis-Reply.
Thorolfsdottir RB, Gudbjartsson DF, Stefansson K. Thorolfsdottir RB, et al. Among authors: stefansson k. JAMA Cardiol. 2024 Nov 1;9(11):1063. doi: 10.1001/jamacardio.2024.2795. JAMA Cardiol. 2024. PMID: 39259532 No abstract available.
Trigeminal neuralgia and its comorbidities: a nationwide disease trajectory study.
Worm J, Jørgensen IF, Davídsson ÓB, Hjalgrim H, Röder T, Ostrowski SR, Pedersen OB, Erikstrup C, Bruun MT, Jensen BA, Sørensen E, Ullum H, Björnsdóttir G, Thorgeirsson T, Stefánsson H, Sveinsson ÓÁ, Stefánsson K, Schytz HW, Bendtsen L, Brunak S, Hansen TF, Maarbjerg S; DBDS Genomic Consortium. Worm J, et al. Among authors: stefansson h, stefansson k. Pain. 2025 Apr 1;166(4):879-887. doi: 10.1097/j.pain.0000000000003428. Epub 2024 Oct 1. Pain. 2025. PMID: 39365662
No association between migraine and HLA alleles in a cohort of 13,210 individuals with migraine from the Danish Blood Donor Study.
Tummoszeit IZ, Olofsson IA, Chalmer MA, Henriksen AP, Aagaard B, Brunak S, Bruun MT, Didriksen M, Erikstrup C, Hjalgrim H, Mikkelsen C, Mikkelsen S, Ostrowski SR, Pedersen OBV, Quinn L, Sørensen E, Ullum H, Olesen J, Banasik K, Hansen TF, Kogelman LJA; DBDS Genomic consortium group. Tummoszeit IZ, et al. Headache. 2025 Jan;65(1):124-131. doi: 10.1111/head.14784. Epub 2024 Oct 1. Headache. 2025. PMID: 39352055 Free PMC article.
Diagnosing migraine from genome-wide genotype data: a machine learning analysis.
Danelakis A, Kumelj T, Winsvold BS, Helene Bjørk M, Nachev P, Matharu M, Giles D; International Headache Genetic Consortium; Tronvik E, Langseth H, Stubberud A. Danelakis A, et al. Brain. 2025 May 6:awaf172. doi: 10.1093/brain/awaf172. Online ahead of print. Brain. 2025. PMID: 40326299
Genome-wide association meta-analyses of drug-resistant epilepsy.
Leu C, Avbersek A, Stevelink R, Custodio HM, Chen S, Speed D, Bennett CA, Jonsson L, Unnsteinsdóttir U, Jorgensen AL, Cavalleri GL, Delanty N, Craig JJ, Depondt C, Johnson MR, Koeleman BPC, Hassanin E, Omidvar ME, Krause R, Lerche H, Marson AG, O'Brien TJ, Sander JW, Sills GJ, Striano P, Zara F, Stefansson H, Stefansson K, May P, Neale BM, Lal D, Berkovic SF; Epi25 Collaborative; EpiPGX Consortium; Sisodiya SM. Leu C, et al. Among authors: stefansson k. EBioMedicine. 2025 Apr 11:105675. doi: 10.1016/j.ebiom.2025.105675. Online ahead of print. EBioMedicine. 2025. PMID: 40240269 Free article.
Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.
Venkatesh SS, Wittemans LBL, Palmer DS, Baya NA, Ferreira T, Hill B, Lassen FH, Parker MJ, Reibe S, Elhakeem A, Banasik K, Bruun MT, Erikstrup C, Aagard Jensen B, Juul A, Mikkelsen C, Nielsen HS, Ostrowski SR, Pedersen OB, Rohde PD, Sørensen E, Ullum H, Westergaard D, Haraldsson A, Holm H, Jonsdottir I, Olafsson I, Steingrimsdottir T, Steinthorsdottir V, Thorleifsson G, Figueredo J, Karjalainen MK, Pasanen A, Jacobs BM, Kalantzis G, Hubers N; Genes & Health Research Team; Estonian Biobank Research Team; Estonian Health Informatics Research Team; DBDS Genomic Consortium; FinnGen; Lippincott M, Fraser A, Lawlor DA, Timpson NJ, Nyegaard M, Stefansson K, Magi R, Laivuori H, van Heel DA, Boomsma DI, Balasubramanian R, Seminara SB, Chan YM, Laisk T, Lindgren CM. Venkatesh SS, et al. Among authors: stefansson k. Nat Genet. 2025 Apr 14. doi: 10.1038/s41588-025-02156-8. Online ahead of print. Nat Genet. 2025. PMID: 40229599
1,089 results