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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1956 1
1958 1
1963 1
1964 1
1967 2
1969 1
1970 1
1972 2
1975 1
1977 3
1978 3
1979 1
1980 1
1982 4
1983 8
1984 3
1985 6
1986 5
1987 7
1988 6
1989 6
1990 7
1991 2
1992 4
1993 1
1994 6
1995 3
1996 2
1997 1
2007 1
2015 1
2016 4
2017 4
2018 9
2019 3
2020 5
2021 9
2022 5
2023 7
2024 5
2025 4
2026 2

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146 results

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The following term was not found in PubMed: Gottskalk
Page 1
Large-scale integration of the plasma proteome with genetics and disease.
Ferkingstad E, Sulem P, Atlason BA, Sveinbjornsson G, Magnusson MI, Styrmisdottir EL, Gunnarsdottir K, Helgason A, Oddsson A, Halldorsson BV, Jensson BO, Zink F, Halldorsson GH, Masson G, Arnadottir GA, Katrinardottir H, Juliusson K, Magnusson MK, Magnusson OT, Fridriksdottir R, Saevarsdottir S, Gudjonsson SA, Stacey SN, Rognvaldsson S, Eiriksdottir T, Olafsdottir TA, Steinthorsdottir V, Tragante V, Ulfarsson MO, Stefansson H, Jonsdottir I, Holm H, Rafnar T, Melsted P, Saemundsdottir J, Norddahl GL, Lund SH, Gudbjartsson DF, Thorsteinsdottir U, Stefansson K. Ferkingstad E, et al. Nat Genet. 2021 Dec;53(12):1712-1721. doi: 10.1038/s41588-021-00978-w. Epub 2021 Dec 2. Nat Genet. 2021. PMID: 34857953
Actionable Genotypes and Their Association with Life Span in Iceland.
Jensson BO, Arnadottir GA, Katrinardottir H, Fridriksdottir R, Helgason H, Oddsson A, Sveinbjornsson G, Eggertsson HP, Halldorsson GH, Atlason BA, Jonsson H, Oskarsson GR, Sturluson A, Gudjonsson SA, Thorisson GA, Zink F, Moore KHS, Palsson G, Sigurdsson A, Jonasdottir A, Jonasdottir A, Magnusson MK, Helgadottir A, Steinthorsdottir V, Gudmundsson J, Stacey SN, Hilmarsson R, Olafsson I, Johannsson OT, Arnar DO, Saemundsdottir J, Magnusson OT, Masson G, Halldorsson BV, Helgason A, Stefansson H, Jonsdottir I, Holm H, Rafnar T, Thorsteinsdottir U, Gudbjartsson DF, Stefansson K, Sulem P. Jensson BO, et al. N Engl J Med. 2023 Nov 9;389(19):1741-1752. doi: 10.1056/NEJMoa2300792. N Engl J Med. 2023. PMID: 37937776
Whole-genome sequencing of 490,640 UK Biobank participants.
UK Biobank Whole-Genome Sequencing Consortium. UK Biobank Whole-Genome Sequencing Consortium. Nature. 2025 Sep;645(8081):692-701. doi: 10.1038/s41586-025-09272-9. Epub 2025 Aug 6. Nature. 2025. PMID: 40770095 Free PMC article.
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez Garcia … See abstract for full author list ➔ Li D, et al. J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235. J Clin Invest. 2024. PMID: 37962958 Free PMC article.
Sequence diversity lost in early pregnancy.
Arnadottir GA, Jonsson H, Hartwig TS, Gruhn JR, Møller PL, Gylfason A, Westergaard D, Chan AC, Oddsson A, Stefansdottir L, Roux LL, Steinthorsdottir V, Swerford Moore KH, Olafsson S, Olason PI, Eggertsson HP, Halldórsson GH, Walters GB, Stefansson H, Gudjonsson SA, Palsson G, Jensson BO, Fridriksdottir R, Petersen JF; COPL Consortium; Helgason A, Norddahl GL, Rohde PD, Saemundsdottir J, Magnusson OT, Halldorsson BV, Bliddal S, Banasik K, Gudbjartsson DF, Nyegaard M, Sulem P, Thorsteinsdottir U, Hoffmann ER, Nielsen HS, Stefansson K. Arnadottir GA, et al. Nature. 2025 Jun;642(8068):672-681. doi: 10.1038/s41586-025-09031-w. Epub 2025 May 21. Nature. 2025. PMID: 40399685 Free PMC article.
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy.
Greene D, De Wispelaere K, Lees J, Codina-Solà M, Jensson BO, Hales E, Katrinecz A, Nieto Molina E, Pascoal S, Pfundt R, Schot R, Sevilla Porras M, Sleutels F, Valenzuela I, Wijngaard R, Arroyo Carrera I, Atton G, Casas-Alba D, Donnelly D, Duat Rodríguez A, Fernández Garoz B, Foulds N, García-Navas Núñez D, González Alguacil E, Jarvis J, Kant SG, Madrigal Bajo I, Martinez-Monseny AF, McKee S, Ortiz Cabrera NV, Rodríguez-Revenga Bodi L, Sariego Jamardo A, Stefansson K, Sulem P, Suri M, Van Karnebeek C, Vasudevan P, Vega Pajares AI, Carracedo Á, Engelen M, Lapunzina P, Morgan NP, Morte B, Rump P, Stirrups K, Tizzano EF, Barakat TS, O'Donoghue M, Pérez-Jurado LA, Freson K, Mumford AD, Turro E. Greene D, et al. Nat Genet. 2025 Jun;57(6):1367-1373. doi: 10.1038/s41588-025-02159-5. Epub 2025 Apr 10. Nat Genet. 2025. PMID: 40210679 Free PMC article.
Rare loss-of-function variants in HECTD2 and AKAP11 confer risk of bipolar disorder.
Thorgeirsson TE, Tragante V, Sveinbjornsson G, Jonsdottir GA, Walters GB, Ivarsdottir EV, Arnadottir GA, Sturluson A, Jensson BO, Fridriksdottir R, Skuladottir AT, Einarsson G, Bjornsdottir G, Gunnarsson AF, Gisladottir RS, Sigurdsson A, Oddsson A, Jonsson H, Magnusson OT, Helgason H, Norddahl G, Thorleifsson G, Haraldsson M, Sigurdsson E, Holm H, Masson G, Gudbjartsson DF, Stefansson H, Sulem P, Stefansson K. Thorgeirsson TE, et al. Nat Genet. 2025 Apr;57(4):851-855. doi: 10.1038/s41588-025-02141-1. Epub 2025 Mar 25. Nat Genet. 2025. PMID: 40133559 Free PMC article.
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.
Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi A, Andréasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barakat TS, Barboni MTS, Bauwens M, Ben-Yosef T, Bernard V, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Bremond-Gignac D, Britten-Jones AC, Bujakowska KM, Burin des Roziers C, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Chadderton N, Charbel Issa P, Coutinho-Santos L, Daiger SP, De Baere E, De Bruyne M, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens CM, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fenner BJ, Fernández-Caballero L, Ferraz Sallum JM, Gana S, Garanto A, Gardner JC, Gilissen C, Gonzàlez-Duarte R, Goto K, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Héon E, Hoefsloot LH, Hoischen A, Holtan JP, Hoyng CB, Ibanez MBB 4th, Inglehearn CF, Iwata T, Jensson BO, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Klaver CCW, Knézy K, Koenekoop RK, Kohl S, Kominami T, Kühlewein L, Lamey TM, Lei… See abstract for full author list ➔ Quinodoz M, et al. Nat Genet. 2026 Jan;58(1):169-179. doi: 10.1038/s41588-025-02451-4. Epub 2026 Jan 9. Nat Genet. 2026. PMID: 41513982 Free PMC article.
Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency.
Oddsson A, Steinthorsdottir V, Oskarsson GR, Styrkarsdottir U, Moore KHS, Isberg S, Halldorsson GH, Sveinbjornsson G, Westergaard D, Nielsen HS, Fridriksdottir R, Jensson BO, Arnadottir GA, Jonsson H, Sturluson A, Snaebjarnarson AS, Andreassen OA, Walters GB, Nyegaard M, Erikstrup C, Steingrimsdottir T, Lie RT, Melsted P, Jonsdottir I, Halldorsson BV, Thorleifsson G, Saemundsdottir J, Magnusson OT; DBDS Genomic Consortium; Banasik K, Sorensen E, Masson G, Pedersen OB, Tryggvadottir L, Haavik J, Ostrowski SR, Stefansson H, Holm H, Rafnar T, Gudbjartsson DF, Sulem P, Stefansson K. Oddsson A, et al. Nat Genet. 2024 Sep;56(9):1804-1810. doi: 10.1038/s41588-024-01885-6. Epub 2024 Aug 27. Nat Genet. 2024. PMID: 39192094 Free PMC article.
146 results