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Page 1
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.
Anderson KJ, Thorolfsdottir ET, Nodelman IM, Halldorsdottir ST, Benonisdottir S, Alghamdi M, Almontashiri N, Barry BJ, Begemann M, Britton JF, Burke S, Cogne B, Cohen ASA, de Diego Boguñá C, Eichler EE, Engle EC, Fahrner JA, Faivre L, Fradin M, Fuhrmann N, Gao CW, Garg G, Grečmalová D, Grippa M, Harris JR, Hoekzema K, Hershkovitz T, Hubbard S, Janssens K, Jurgens JA, Kmoch S, Knopp C, Koptagel MA, Ladha FA, Lapunzina P, Lindau T, Meuwissen M, Minicucci A, Neuhaus E, Nizon M, Nosková L, Park K, Patel C, Pfundt R, Prasun P, Rahner N, Robin NH, Ronspies C, Roohi J, Rosenfeld J, Saenz M, Saunders C, Stark Z, Thiffault I, Thull S, Velasco D, Velmans C, Verseput J, Vitobello A, Wang T, Weiss K, Wentzensen IM, Pilarowski G, Eysteinsson T, Gillentine M, Stefánsson K, Helgason A, Bowman GD, Bjornsson HT. Anderson KJ, et al. medRxiv [Preprint]. 2025 May 7:2025.05.06.25326635. doi: 10.1101/2025.05.06.25326635. medRxiv. 2025. PMID: 40385454 Free PMC article. Preprint.
A mouse model carrying a human-derived Chd1 missense variant (Chd1 (R616Q/+)) displays female-restricted phenotypes, including growth deficiency, anxiety and hypotonia. ...In the gnomAD and UK Biobank databases, rare missense variants in CHD1 are overrepresented in …
A mouse model carrying a human-derived Chd1 missense variant (Chd1 (R616Q/+)) displays female-restricted phenotypes, including growth …
Genetic insight into sick sinus syndrome.
Thorolfsdottir RB, Sveinbjornsson G, Aegisdottir HM, Benonisdottir S, Stefansdottir L, Ivarsdottir EV, Halldorsson GH, Sigurdsson JK, Torp-Pedersen C, Weeke PE, Brunak S, Westergaard D, Pedersen OB, Sorensen E, Nielsen KR, Burgdorf KS, Banasik K, Brumpton B, Zhou W, Oddsson A, Tragante V, Hjorleifsson KE, Davidsson OB, Rajamani S, Jonsson S, Torfason B, Valgardsson AS, Thorgeirsson G, Frigge ML, Thorleifsson G, Norddahl GL, Helgadottir A, Gretarsdottir S, Sulem P, Jonsdottir I, Willer CJ, Hveem K, Bundgaard H, Ullum H, Arnar DO, Thorsteinsdottir U, Gudbjartsson DF, Holm H, Stefansson K; DBDS Genomic Consortium. Thorolfsdottir RB, et al. Eur Heart J. 2021 May 21;42(20):1959-1971. doi: 10.1093/eurheartj/ehaa1108. Eur Heart J. 2021. PMID: 33580673 Free PMC article.
Variants at six loci associated with SSS, a reported missense variant in MYH6, known atrial fibrillation (AF)/electrocardiogram variants at PITX2, ZFHX3, TTN/CCDC141, and SCN10A and a low-frequency (MAF = 1.1-1.8%) missense variant, p.Gly62Cys in KRT8 encoding the i …
Variants at six loci associated with SSS, a reported missense variant in MYH6, known atrial fibrillation (AF)/electrocardiogram varia …
Genome-Wide Association Study of Accessory Atrioventricular Pathways.
Aegisdottir HM, Andreasen L, Thorolfsdottir RB, Sveinbjornsson G, Jonsdottir AB, Stefansdottir L, Thorleifsson G, Sigurdsson A, Halldorsson GH, Barc J, Simonet F, Tragante V, Oddsson A, Ferkingstad E, Svendsen JH, Ghouse J, Ahlberg G, Paludan-Müller C, Hadji-Turdeghal K, Bustamante M, Ulfarsson MO, Helgadottir A, Gretarsdottir S, Saevarsdottir S, Jonsdottir I, Erikstrup C, Ullum H, Sørensen E, Brunak S, Jøns C, Zheng C, Bezzina CR, Knowlton KU, Nadauld LD, Sulem P, Ostrowski SR, Pedersen OB, Arnar DO, Gudbjartsson DF, Olesen MS, Bundgaard H, Holm H, Stefansson K; DBDS consortium. Aegisdottir HM, et al. JAMA Cardiol. 2024 Nov 1;9(11):1053-1058. doi: 10.1001/jamacardio.2024.2684. JAMA Cardiol. 2024. PMID: 39230897 Free PMC article.
Of the individuals with APs, 909 had been confirmed in EP study. Three common missense variants were associated with APs, in the genes CCDC141 (p.Arg935Trp: adjusted odds ratio [aOR], 1.37; 95% CI, 1.24-1.52, and p.Ala141Val: aOR, 1.55; 95% CI 1.34-1.80) and SCN10A (p.Ala1 …
Of the individuals with APs, 909 had been confirmed in EP study. Three common missense variants were associated with APs, in the gene …
A Missense Variant in PLEC Increases Risk of Atrial Fibrillation.
Thorolfsdottir RB, Sveinbjornsson G, Sulem P, Helgadottir A, Gretarsdottir S, Benonisdottir S, Magnusdottir A, Davidsson OB, Rajamani S, Roden DM, Darbar D, Pedersen TR, Sabatine MS, Jonsdottir I, Arnar DO, Thorsteinsdottir U, Gudbjartsson DF, Holm H, Stefansson K. Thorolfsdottir RB, et al. J Am Coll Cardiol. 2017 Oct 24;70(17):2157-2168. doi: 10.1016/j.jacc.2017.09.005. J Am Coll Cardiol. 2017. PMID: 29050564 Free PMC article.
RESULTS: The authors discovered 2 novel AF variants, the intergenic variant rs72700114, between the genes LINC01142 and METTL11B (risk allele frequency = 8.1%; odds ratio [OR]: 1.26; p = 3.1 10(-18)), and the missense variant p.Gly4098Ser in PLEC (frequency = 1.2%; OR: 1 …
RESULTS: The authors discovered 2 novel AF variants, the intergenic variant rs72700114, between the genes LINC01142 and METTL11B (risk allel …
A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta.
Bjornsson T, Thorolfsdottir RB, Sveinbjornsson G, Sulem P, Norddahl GL, Helgadottir A, Gretarsdottir S, Magnusdottir A, Danielsen R, Sigurdsson EL, Adalsteinsdottir B, Gunnarsson SI, Jonsdottir I, Arnar DO, Helgason H, Gudbjartsson T, Gudbjartsson DF, Thorsteinsdottir U, Holm H, Stefansson K. Bjornsson T, et al. Eur Heart J. 2018 Sep 7;39(34):3243-3249. doi: 10.1093/eurheartj/ehy142. Eur Heart J. 2018. PMID: 29590334 Free PMC article.
We found association with a rare (frequency = 0.34%) missense mutation p.Arg721Trp in MYH6 (odds ratio = 44.2, P = 5.0 10-22), encoding the alpha-heavy chain subunit of cardiac myosin, an essential sarcomere protein. ...CONCLUSION: Through a population approach, w …
We found association with a rare (frequency = 0.34%) missense mutation p.Arg721Trp in MYH6 (odds ratio = 44.2, P = 5.0 10-22 …
Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation.
Thorolfsdottir RB, Sveinbjornsson G, Sulem P, Nielsen JB, Jonsson S, Halldorsson GH, Melsted P, Ivarsdottir EV, Davidsson OB, Kristjansson RP, Thorleifsson G, Helgadottir A, Gretarsdottir S, Norddahl G, Rajamani S, Torfason B, Valgardsson AS, Sverrisson JT, Tragante V, Holmen OL, Asselbergs FW, Roden DM, Darbar D, Pedersen TR, Sabatine MS, Willer CJ, Løchen ML, Halldorsson BV, Jonsdottir I, Hveem K, Arnar DO, Thorsteinsdottir U, Gudbjartsson DF, Holm H, Stefansson K. Thorolfsdottir RB, et al. Commun Biol. 2018 Jun 12;1:68. doi: 10.1038/s42003-018-0068-9. eCollection 2018. Commun Biol. 2018. PMID: 30271950 Free PMC article.
We performed a meta-analysis of GWAS of atrial fibrillation among 29,502 cases and 767,760 controls from Iceland and the UK Biobank with follow-up in samples from Norway and the US, focusing on low-frequency coding and splice variants aiming to identify causal genes. We observe a …
We performed a meta-analysis of GWAS of atrial fibrillation among 29,502 cases and 767,760 controls from Iceland and the UK Biobank with fol …
Variants in NKX2-5 and FLNC Cause Dilated Cardiomyopathy and Sudden Cardiac Death.
Sveinbjornsson G, Olafsdottir EF, Thorolfsdottir RB, Davidsson OB, Helgadottir A, Jonasdottir A, Jonasdottir A, Bjornsson E, Jensson BO, Arnadottir GA, Kristinsdottir H, Stephensen SS, Oskarsson G, Gudbjartsson T, Sigurdsson EL, Andersen K, Danielsen R, Arnar DO, Jonsdottir I, Thorsteinsdottir U, Sulem P, Thorgeirsson G, Gudbjartsson DF, Holm H, Stefansson K. Sveinbjornsson G, et al. Circ Genom Precis Med. 2018 Aug;11(8):e002151. doi: 10.1161/CIRCGEN.117.002151. Circ Genom Precis Med. 2018. PMID: 30354339
RESULTS: We identified 2 DCM variants in established cardiomyopathy genes, a missense variant p.Phe145Leu in NKX2-5 carried by 1 in 7100 Icelanders ( P=7.0 10(-12)) and a frameshift variant p.Phe1626Serfs*40 in FLNC carried by 1 in 3600 Icelanders ( P=2.1 10(-10)). ...
RESULTS: We identified 2 DCM variants in established cardiomyopathy genes, a missense variant p.Phe145Leu in NKX2-5 carried by 1 in 7 …
Missense variants in FRS3 affect body mass index in populations of diverse ancestries.
Jonsdottir AB, Sveinbjornsson G, Thorolfsdottir RB, Tamlander M, Tragante V, Olafsdottir T, Rognvaldsson S, Sigurdsson A, Eggertsson HP, Aegisdottir HM, Arnar DO, Banasik K, Beyter D, Bjarnason RG, Bjornsdottir G, Brunak S, Topholm Bruun M, Dowsett J, Einarsson E, Einarsson G, Erikstrup C, Fridriksdottir R, Ghouse J, Gretarsdottir S, Halldorsson GH, Hansen T, Helgadottir A, Holm PC, Ivarsdottir EV, Iversen KK, Jensen BA, Jonsdottir I, Knight S, Knowlton KU, Kristmundsdottir S, Larusdottir AE, Magnusson OT, Masson G, Melsted P, Mikkelsen C, Moore KHS, Oddsson A, Olason PI, Palsson F, Pedersen OB, Schwinn M, Sigurdsson EL, Skaftason A, Stefansdottir L, Stefansson H, Steingrimsdottir T, Sturluson A, Styrkarsdottir U, Sørensen E, Teitsdottir UD, Thorgeirsson TE, Thorisson GA, Thorsteinsdottir U, Ulfarsson MO, Ullum H, Vikingsson A, Walters GB; DBDS Genomic Consortium; Nadauld LD, Bundgaard H, Ostrowski SR, Helgason A, Halldorsson BV, Norddahl GL, Ripatti S, Gudbjartsson DF, Thorleifsson G, Steinthorsdottir V, Holm H, Sulem P, Stefansson K. Jonsdottir AB, et al. Nat Commun. 2025 Mar 25;16(1):2694. doi: 10.1038/s41467-025-57753-2. Nat Commun. 2025. PMID: 40133257 Free PMC article.
We identify an intergenic 262,760 base pair deletion at the MC4R locus that associates with 4.11 kg/m(2) higher BMI per allele, likely through downregulation of MC4R. Moreover, a rare FRS3 missense variant, p.Glu115Lys, only found in individuals from Finland, associates wi …
We identify an intergenic 262,760 base pair deletion at the MC4R locus that associates with 4.11 kg/m(2) higher BMI per allele, likely throu …