A curated list of scholarly publications relevant to research, policy and health care from the Nordic human genetics and precision medicine community and their collaborators.
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Nordic Papers List (Most Recent First)
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.
Arnadottir GA, Oddsson A, Jensson BO, Gisladottir S, Simon MT, Arnthorsson AO, Katrinardottir H, Fridriksdottir R, Ivarsdottir EV, Jonasdottir A, Jonasdottir A, Barrick R, Saemundsdottir J, le Roux L, Oskarsson GR, Asmundsson J, Steffensen T, Gudmundsson KR, Ludvigsson P, Jonsson JJ, Masson G, Jonsdottir I, Holm H, Jonasson JG, Magnusson OT, Thorarensen O, Abdenur J, Norddahl GL, Gudbjartsson DF, Bjornsson HT, Thorsteinsdottir U, Sulem P, Stefansson K.
Nat Commun. 2022 Feb 4;13(1):705.
Challenges at the APOE locus: a robust quality control approach for accurate APOE genotyping.
Belloy ME, Eger SJ, Le Guen Y, Damotte V, Ahmad S, Ikram MA, Ramirez A, Tsolaki AC, Rossi G, Jansen IE, de Rojas I, Parveen K, Sleegers K, Ingelsson M, Hiltunen M, Amin N, Andreassen O, Sánchez-Juan P, Kehoe P, Amouyel P, Sims R, Frikke-Schmidt R, van der Flier WM, Lambert JC; European Alzheimer & Dementia BioBank (EADB), He Z, Han SS, Napolioni V, Greicius MD.
Alzheimers Res Ther. 2022 Feb 4;14(1):22. doi: 10.1186/s13195-022-00962-4.
Adiposity, diabetes, lifestyle factors and risk of gastroesophageal reflux disease: a Mendelian randomization study.
Yuan S, Larsson SC.
Eur J Epidemiol. 2022 Feb 4.
Discovery of genomic loci of the human cerebral cortex using genetically informed brain atlases.
Makowski C, van der Meer D, Dong W, Wang H, Wu Y, Zou J, Liu C, Rosenthal SB, Hagler DJ Jr, Fan CC, Kremen WS, Andreassen OA, Jernigan TL, Dale AM, Zhang K, Visscher PM, Yang J, Chen CH.
Science. 2022 Feb 4;375(6580):522-528.
Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles.
Hautakangas H, Winsvold BS, Ruotsalainen SE, Bjornsdottir G, Harder AVE, Kogelman LJA, Thomas LF, Noordam R, Benner C, Gormley P, Artto V, Banasik K, Bjornsdottir A, Boomsma DI, Brumpton BM, Burgdorf KS, Buring JE, Chalmer MA, de Boer I, Dichgans M, Erikstrup C, Färkkilä M, Garbrielsen ME, Ghanbari M, Hagen K, Häppölä P, Hottenga JJ, Hrafnsdottir MG, Hveem K, Johnsen MB, Kähönen M, Kristoffersen ES, Kurth T, Lehtimäki T, Lighart L, Magnusson SH, Malik R, Pedersen OB, Pelzer N, Penninx BWJH, Ran C, Ridker PM, Rosendaal FR, Sigurdardottir GR, Skogholt AH, Sveinsson OA, Thorgeirsson TE, Ullum H, Vijfhuizen LS, Widén E, van Dijk KW; International Headache Genetics Consortium; HUNT All-in Headache; Danish Blood Donor Study Genomic Cohort, Aromaa A, Belin AC, Freilinger T, Ikram MA, Järvelin MR, Raitakari OT, Terwindt GM, Kallela M, Wessman M, Olesen J, Chasman DI, Nyholt DR, Stefánsson H, Stefansson K, van den Maagdenberg AMJM, Hansen TF, Ripatti S, Zwart JA, Palotie A, Pirinen M.
Nat Genet. 2022 Feb 3.
Combined effects of host genetics and diet on human gut microbiota and incident disease in a single population cohort.
Qin Y, Havulinna AS, Liu Y, Jousilahti P, Ritchie SC, Tokolyi A, Sanders JG, Valsta L, Brożyńska M, Zhu Q, Tripathi A, Vázquez-Baeza Y, Loomba R, Cheng S, Jain M, Niiranen T, Lahti L, Knight R, Salomaa V, Inouye M, Méric G.
Nat Genet. 2022 Feb 3.
Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.
Bjornsdottir G, Stefansdottir L, Thorleifsson G, Sulem P, Norland K, Ferkingstad E, Oddsson A, Zink F, Lund SH, Nawaz MS, Bragi Walters G, Skuladottir AT, Gudjonsson SA, Einarsson G, Halldorsson GH, Bjarnadottir V, Sveinbjornsson G, Helgadottir A, Styrkarsdottir U, Gudmundsson LJ, Pedersen OB, Hansen TF, Werge T, Banasik K, Troelsen A, Skou ST, Thørner LW, Erikstrup C, Nielsen KR, Mikkelsen S; DBDS Genetic Consortium; GO Consortium, Jonsdottir I, Bjornsson A, Olafsson IH, Ulfarsson E, Blondal J, Vikingsson A, Brunak S, Ostrowski SR, Ullum H, Thorsteinsdottir U, Stefansson H, Gudbjartsson DF, Thorgeirsson TE, Stefansson K.
Nat Commun. 2022 Feb 2;13(1):634.
ADA/EASD Precision Medicine in Diabetes Initiative: An International Perspective and Future Vision for Precision Medicine in Diabetes.<
Nolan JJ, Kahkoska AR, Semnani-Azad Z, Hivert MF, Ji L, Mohan V, Eckel RH, Philipson LH, Rich SS, Gruber C, Franks PW.
Diabetes Care. 2022 Feb 1;45(2):261-266.
Clinical Implications of SCN10A Loss-of-Function Variants in 169 610 Exomes Representing the General Population.
Paludan-Müller C, Larsen S, Ahlberg G, Andreasen L, Monfort LM, Svendsen JH, Jespersen T, Bundgaard H, Kanters JK, Olesen MS.
Circ Genom Precis Med. 2022 Feb 1:CIRCGEN121003574.
Gut Microbiome Composition Is Predictive of Incident Type 2 Diabetes in a Population Cohort of 5,572 Finnish Adults.
Ruuskanen MO, Erawijantari PP, Havulinna AS, Liu Y, Méric G, Tuomilehto J, Inouye M, Jousilahti P, Salomaa V, Jain M, Knight R, Lahti L, Niiranen TJ.
Diabetes Care. 2022 Jan 31:dc212358.
A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development.
Rahikkala E, Urpa L, Ghimire B, Topa H, Kurki MI, Koskela M, Airavaara M, Hämäläinen E, Pylkäs K, Körkkö J, Savolainen H, Suoranta A, Bertoli-Avella A, Rolfs A, Mattila P, Daly M, Palotie A, Pietiläinen O, Moilanen J, Kuismin O.
Eur J Hum Genet. 2022 Jan 28.
Inverse association between serum 25-hydroxyvitamin D and nonalcoholic fatty liver disease.
Yuan S, Larsson SC.
Clin Gastroenterol Hepatol. 2022 Jan 28:S1542-3565(22)00075-1.
Waist circumference thresholds predicting incident dysglycaemia and type 2 diabetes in Black African men and women.
Goedecke JH, Nguyen K, Kufe C, Masemola M, Chikowore T, Mendham AE, Norris SA, Crowther NJ, Karpe F, Olsson T, Kengne AP, Micklesfield LK.
Diabetes Obes Metab. 2022 Jan 27.
Adipose tissue distribution from body MRI is associated with cross-sectional and longitudinal brain age in adults.
Beck D, de Lange AG, Alnæs D, Maximov II, Pedersen ML, Leinhard OD, Linge J, Simon R, Richard G, Ulrichsen KM, Dørum ES, Kolskår KK, Sanders AM, Winterton A, Gurholt TP, Kaufmann T, Steen NE, Nordvik JE, Andreassen OA, Westlye LT.
Neuroimage Clin. 2022 Jan 27;33:102949.
Immune marker levels in severe mental disorders: associations with polygenic risk scores of related mental phenotypes and psoriasis.
Werner MCF, Wirgenes KV, Shadrin A, Lunding SH, Rødevand L, Hjell G, Ormerod MBEG, Haram M, Agartz I, Djurovic S, Melle I, Aukrust P, Ueland T, Andreassen OA, Steen NE.
Transl Psychiatry. 2022 Jan 26;12(1):38.
Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies.
Brunklaus A, Pérez-Palma E, Ghanty I, Xinge J, Brilstra E, Ceulemans B, Chemaly N, de Lange I, Depienne C, Guerrini R, Mei D, Møller RS, Nabbout R, Regan BM, Schneider AL, Scheffer IE, Schoonjans AS, Symonds JD, Weckhuysen S, Kattan MW, Zuberi SM, Lal D.
Neurology. 2022 Jan 24:10.1212/WNL.0000000000200028.
Cross-tissue transcriptome-wide association studies identify susceptibility genes shared between schizophrenia and inflammatory bowel disease.
Uellendahl-Werth F, Maj C, Borisov O, Juzenas S, Wacker EM, Jørgensen IF, Steiert TA, Bej S, Krawitz P, Hoffmann P, Schramm C, Wolkenhauer O, Banasik K, Brunak S, Schreiber S, Karlsen TH, Degenhardt F, Nöthen M, Franke A, Folseraas T, Ellinghaus D.
Commun Biol. 2022 Jan 20;5(1):80.
Limited association between infections, autoimmune disease and genetic risk and immune activation in severe mental disorders.
Werner MCF, Wirgenes KV, Shadrin AA, Lunding SH, Rødevand L, Hjell G, Ormerod MBEG, Haram M, Agartz I, Djurovic S, Melle I, Aukrust P, Ueland T, Andreassen OA, Steen NE.
Prog Neuropsychopharmacol Biol Psychiatry. 2022 Jan 19;116:110511.
Visual search: Heritability and association with general intelligence.
Quinn PD, López Pérez D, Kennedy DP, Bölte S, D'Onofrio B, Lichtenstein P, Falck-Ytter T.
Genes Brain Behav. 2022 Feb;21(2):e12779. Epub 2022 Jan 19.
Genetic Predictors of Change in Waist Circumference and Waist-To-Hip Ratio with Lifestyle Intervention: the Trans-NIH consortium for Genetics of Weight Loss Response to Lifestyle Intervention.
McCaffery JM, Jablonski KA, Pan Q, Astrup A, Christiansen MR, Corella D, Corso LML, Florez JC, Franks PW, Gardner C, Hansen T, Kilpeläinen T, Knowler WC, Lindström J, Saris WHM, Sørensen TI, Tuomilehto J, Uusitupa M, Wing RR, Agurs-Collins T.
Diabetes. 2022 Jan 14:db210741.
Interleukins and rheumatoid arthritis: bi-directional Mendelian randomization investigation.
Yuan S, Li X, Lin A, Larsson SC.
Semin Arthritis Rheum. 2022 Jan 14;53:151958. Online ahead of print.
Four groups of type 2 diabetes contribute to the etiological and clinical heterogeneity in newly diagnosed individuals: An IMI DIRECT study.
Wesolowska-Andersen A, Brorsson CA, Bizzotto R, Mari A, Tura A, Koivula R, Mahajan A, Vinuela A, Tajes JF, Sharma S, Haid M, Prehn C, Artati A, Hong MG, Musholt PB, Kurbasic A, De Masi F, Tsirigos K, Pedersen HK, Gudmundsdottir V, Thomas CE, Banasik K, Jennison C, Jones A, Kennedy G, Bell J, Thomas L, Frost G, Thomsen H, Allin K, Hansen TH, Vestergaard H, Hansen T, Rutters F, Elders P, t'Hart L, Bonnefond A, Canouil M, Brage S, Kokkola T, Heggie A, McEvoy D, Hattersley A, McDonald T, Teare H, Ridderstrale M, Walker M, Forgie I, Giordano GN, Froguel P, Pavo I, Ruetten H, Pedersen O, Dermitzakis E, Franks PW, Schwenk JM, Adamski J, Pearson E, McCarthy MI, Brunak S; IMI DIRECT Consortium.
Cell Rep Med. 2022 Jan 4;3(1):100477.
Lipid-Associated Variants near ANGPTL3 and LPL Show Parent-of-Origin Specific Effects on Blood Lipid Levels and Obesity.
Lessmark A, Hatem G, Kovacs G, Vitai M, Ahlqvist E, Tuomi T, Koranyi L, Groop L, Prasad RB.
Genes (Basel). 2021 Dec 29;13(1):91.