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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Featured
Molecular benchmarks of a SARS-CoV-2 epidemic.
Jonsson H, Magnusson OT, Melsted P, Berglund J, Agustsdottir AB, Eiríksdottir B, Fridriksdottir R, Garðarsdottir EE, Georgsson G, Gretarsdottir OS, Guðmundsson KR, Gunnarsdottir TR, Eggertsson H, Gylfason A, Holm H, Jensson BO, Jonasdottir A, Jonsson F, Josefsdottir KS, Thordardottir M, Kristinsson KG, Kristjánsson Þ, Magnusdottir DN, Roux LL, Saemundsdottir J, Sigurdsson A, Sigmundsdottir G, Sveinbjornsson G, Rognvaldsson S, Eiriksson O, Magnusson MK, Sveinsdottir KE, Sveinsdottir M, Thorarensen EA, Thorbjornsson B, Löve A, Norddahl GL, Jonsdottir I, Sulem P, Masson G, Moller A, Gudnason T, Kristjansson M, Helgason A, Gudbjartsson DF, Thorsteinsdottir U, Stefansson K.
Nat Commun. 2021 Jun 15;12(1):3633.
By estimating the rate of accumulation of viral mutations during the SARS-CoV-2 epidemic in Iceland, researchers show that the mutation accumulation rate per week gives information about how fast the epidemic is spreading and can provide a quantitative assessment of the effectiveness of the measures taken to slow down the spread of the virus.
Image credit: E. Alibrandi/adapted from Nature Communications
Biweekly List (Most Recent First)
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Bonardi CM, Heyne HO, Fiannacca M, Fitzgerald MP, Gardella E, Gunning B, Olofsson K, Lesca G, Verbeek N, Stamberger H, Striano P, Zara F, Mancardi MM, Nava C, Syrbe S, Buono S, Baulac S, Coppola A, Weckhuysen S, Schoonjans AS, Ceulemans B, Sarret C, Baumgartner T, Muhle H, des Portes V, Toulouse J, Nougues MC, Rossi M, Demarquay G, Ville D, Hirsch E, Maurey H, Willems M, de Bellescize J, Altuzarra CD, Villeneuve N, Bartolomei F, Picard F, Hornemann F, Koolen DA, Kroes HY, Reale C, Fenger CD, Tan WH, Dibbens L, Bearden DR, Møller RS, Rubboli G.
Brain. 2021 Jun 11:awab219.
Genome-wide association identifies the first risk loci for psychosis in Alzheimer disease.
DeMichele-Sweet MAA, Klei L, Creese B, Harwood JC, Weamer EA, McClain L, Sims R, Hernandez I, Moreno-Grau S, Tárraga L, Boada M, Alarcón-Martín E, Valero S; NIA-LOAD Family Based Study Consortium, Alzheimer’s Disease Genetics Consortium (ADGC), Liu Y, Hooli B, Aarsland D, Selbaek G, Bergh S, Rongve A, Saltvedt I, Skjellegrind HK, Engdahl B, Stordal E, Andreassen OA, Djurovic S, Athanasiu L, Seripa D, Borroni B, Albani D, Forloni G, Mecocci P, Serretti A, De Ronchi D, Politis A, Williams J, Mayeux R, Foroud T, Ruiz A, Ballard C, Holmans P, Lopez OL, Kamboh MI, Devlin B, Sweet RA.
Mol Psychiatry. 2021 Jun 10.
Replication and cross-validation of type 2 diabetes subtypes based on clinical variables: an IMI-RHAPSODY study.
Slieker RC, Donnelly LA, Fitipaldi H, Bouland GA, Giordano GN, Åkerlund M, Gerl MJ, Ahlqvist E, Ali A, Dragan I, Festa A, Hansen MK, Mansour Aly D, Kim M, Kuznetsov D, Mehl F, Klose C, Simons K, Pavo I, Pullen TJ, Suvitaival T, Wretlind A, Rossing P, Lyssenko V, Legido-Quigley C, Groop L, Thorens B, Franks PW, Ibberson M, Rutter GA, Beulens JWJ, 't Hart LM, Pearson ER.
Diabetologia. 2021 Jun 10.
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK, Singer-Berk M, Son R, Sveden A, Wood J, England E, Cole JB, Weisburd B, Watts N, Caulkins L, Dornbos P, Koesterer R, Zappala Z, Zhang H, Maloney KA, Dahl A, Aguilar-Salinas CA, Atzmon G, Barajas-Olmos F, Barzilai N, Blangero J, Boerwinkle E, Bonnycastle LL, Bottinger E, Bowden DW, Centeno-Cruz F, Chambers JC, Chami N, Chan E, Chan J, Cheng CY, Cho YS, Contreras-Cubas C, Córdova E, Correa A, DeFronzo RA, Duggirala R, Dupuis J, Garay-Sevilla ME, García-Ortiz H, Gieger C, Glaser B, González-Villalpando C, Gonzalez ME, Grarup N, Groop L, Gross M, Haiman C, Han S, Hanis CL, Hansen T, Heard-Costa NL, Henderson BE, Hernandez JMM, Hwang MY, Islas-Andrade S, Jørgensen ME, Kang HM, Kim BJ, Kim YJ, Koistinen HA, Kooner JS, Kuusisto J, Kwak SH, Laakso M, Lange L, Lee JY, Lee J, Lehman DM, Linneberg A, Liu J, Loos RJF, Lyssenko V, Ma RCW, Martínez-Hernández A, Meigs JB, Meitinger T, Mendoza-Caamal E, Mohlke KL, Morris AD, Morrison AC, Ng MCY, Nilsson PM, O'Donnell CJ, Orozco L, Palmer CNA, Park KS, Post WS, Pedersen O, Preuss M, Psaty BM, Reiner AP, Revilla-Monsalve C, Rich SS, Rotter JI, Saleheen D, Schurmann C, Sim X, Sladek R, Small KS, So WY, Spector TD, Strauch K, Strom TM, Tai ES, Tam CHT, Teo YY, Thameem F, Tomlinson B, Tracy RP, Tuomi T, Tuomilehto J, Tusié-Luna T, van Dam RM, Vasan RS, Wilson JG, Witte DR, Wong TY; AMP-T2D-GENES Consortia, Burtt NP, Zaitlen N, McCarthy MI, Boehnke M, Pollin TI, Flannick J, Mercader JM, O'Donnell-Luria A, Baxter S, Florez JC, MacArthur DG, Udler MS.
Nat Commun. 2021 Jun 9;12(1):3505.
The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis.
Ivarsdottir EV, Holm H, Benonisdottir S, Olafsdottir T, Sveinbjornsson G, Thorleifsson G, Eggertsson HP, Halldorsson GH, Hjorleifsson KE, Melsted P, Gylfason A, Arnadottir GA, Oddsson A, Jensson BO, Jonasdottir A, Jonasdottir A, Juliusdottir T, Stefansdottir L, Tragante V, Halldorsson BV, Petersen H, Thorgeirsson G, Thorsteinsdottir U, Sulem P, Hinriksdottir I, Jonsdottir I, Gudbjartsson DF, Stefansson K.
Commun Biol. 2021 Jun 9;4(1):706.
Association analysis of juvenile idiopathic arthritis genetic susceptibility factors in Estonian patients.
Nikopensius T, Niibo P, Haller T, Jagomägi T, Voog-Oras Ü, Tõnisson N, Metspalu A, Saag M, Pruunsild C.
Clin Rheumatol. 2021 Jun 8.
Meal-induced inflammation: postprandial insights from the Personalised REsponses to DIetary Composition Trial (PREDICT) study in 1000 participants.
Mazidi M, Valdes AM, Ordovas JM, Hall WL, Pujol JC, Wolf J, Hadjigeorgiou G, Segata N, Sattar N, Koivula R, Spector TD, Franks PW, Berry SE.
Am J Clin Nutr. 2021 Jun 8:nqab132.
Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences.
Ganel L, Chen L, Christ R, Vangipurapu J, Young E, Das I, Kanchi K, Larson D, Regier A, Abel H, Kang CJ, Scott A, Havulinna A, Chiang CWK, Service S, Freimer N, Palotie A, Ripatti S, Kuusisto J, Boehnke M, Laakso M, Locke A, Stitziel NO, Hall IM.
Hum Genomics. 2021 Jun 7;15(1):34.
Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.
de Rojas I, Moreno-Grau S, Tesi N, Grenier-Boley B, Andrade V, Jansen IE, Pedersen NL, Stringa N, Zettergren A, Hernández I, Montrreal L, Antúnez C, Antonell A, Tankard RM, Bis JC, Sims R, Bellenguez C, Quintela I, González-Perez A, Calero M, Franco-Macías E, Macías J, Blesa R, Cervera-Carles L, Menéndez-González M, Frank-García A, Royo JL, Moreno F, Huerto Vilas R, Baquero M, Diez-Fairen M, Lage C, García-Madrona S, García-González P, Alarcón-Martín E, Valero S, Sotolongo-Grau O, Ullgren A, Naj AC, Lemstra AW, Benaque A, Pérez-Cordón A, Benussi A, Rábano A, Padovani A, Squassina A, de Mendonça A, Arias Pastor A, Kok AAL, Meggy A, Pastor AB, Espinosa A, Corma-Gómez A, Martín Montes A, Sanabria Á, DeStefano AL, Schneider A, Haapasalo A, Kinhult Ståhlbom A, Tybjærg-Hansen A, Hartmann AM, Spottke A, Corbatón-Anchuelo A, Rongve A, Borroni B, Arosio B, Nacmias B, Nordestgaard BG, Kunkle BW, Charbonnier C, Abdelnour C, Masullo C, Martínez Rodríguez C, Muñoz-Fernandez C, Dufouil C, Graff C, Ferreira CB, Chillotti C, Reynolds CA, Fenoglio C, Van Broeckhoven C, Clark C, Pisanu C, Satizabal CL, Holmes C, Buiza-Rueda D, Aarsland D, Rujescu D, Alcolea D, Galimberti D, Wallon D, Seripa D, Grünblatt E, Dardiotis E, Düzel E, Scarpini E, Conti E, Rubino E, Gelpi E, Rodriguez-Rodriguez E, Duron E, Boerwinkle E, Ferri E, Tagliavini F, Küçükali F, Pasquier F, Sanchez-Garcia F, Mangialasche F, Jessen F, Nicolas G, Selbæk G, Ortega G, Chêne G, Hadjigeorgiou G, Rossi G, Spalletta G, Giaccone G, Grande G, Binetti G, Papenberg G, Hampel H, Bailly H, Zetterberg H, Soininen H, Karlsson IK, Alvarez I, Appollonio I, Giegling I, Skoog I, Saltvedt I, Rainero I, Rosas Allende I, Hort J, Diehl-Schmid J, Van Dongen J, Vidal JS, Lehtisalo J, Wiltfang J, Thomassen JQ, Kornhuber J, Haines JL, Vogelgsang J, Pineda JA, Fortea J, Popp J, Deckert J, Buerger K, Morgan K, Fließbach K, Sleegers K, Molina-Porcel L, Kilander L, Weinhold L, Farrer LA, Wang LS, Kleineidam L, Farotti L, Parnetti L, Tremolizzo L, Hausner L, Benussi L, Froelich L, Ikram MA, Deniz-Naranjo MC, Tsolaki M, Rosende-Roca M, Löwenmark M, Hulsman M, Spallazzi M, Pericak-Vance MA, Esiri M, Bernal Sánchez-Arjona M, Dalmasso MC, Martínez-Larrad MT, Arcaro M, Nöthen MM, Fernández-Fuertes M, Dichgans M, Ingelsson M, Herrmann MJ, Scherer M, Vyhnalek M, Kosmidis MH, Yannakoulia M, Schmid M, Ewers M, Heneka MT, Wagner M, Scamosci M, Kivipelto M, Hiltunen M, Zulaica M, Alegret M, Fornage M, Roberto N, van Schoor NM, Seidu NM, Banaj N, Armstrong NJ, Scarmeas N, Scherbaum N, Goldhardt O, Hanon O, Peters O, Skrobot OA, Quenez O, Lerch O, Bossù P, Caffarra P, Dionigi Rossi P, Sakka P, Hoffmann P, Holmans PA, Fischer P, Riederer P, Yang Q, Marshall R, Kalaria RN, Mayeux R, Vandenberghe R, Cecchetti R, Ghidoni R, Frikke-Schmidt R, Sorbi S, Hägg S, Engelborghs S, Helisalmi S, Botne Sando S, Kern S, Archetti S, Boschi S, Fostinelli S, Gil S, Mendoza S, Mead S, Ciccone S, Djurovic S, Heilmann-Heimbach S, Riedel-Heller S, Kuulasmaa T, Del Ser T, Lebouvier T, Polak T, Ngandu T, Grimmer T, Bessi V, Escott-Price V, Giedraitis V, Deramecourt V, Maier W, Jian X, Pijnenburg YAL; EADB contributors; GR@ACE study group; DEGESCO consortium; IGAP (ADGC, CHARGE, EADI, GERAD); PGC-ALZ consortia, Kehoe PG, Garcia-Ribas G, Sánchez-Juan P, Pastor P, Pérez-Tur J, Piñol-Ripoll G, Lopez de Munain A, García-Alberca JM, Bullido MJ, Álvarez V, Lleó A, Real LM, Mir P, Medina M, Scheltens P, Holstege H, Marquié M, Sáez ME, Carracedo Á, Amouyel P, Schellenberg GD, Williams J, Seshadri S, van Duijn CM, Mather KA, Sánchez-Valle R, Serrano-Ríos M, Orellana A, Tárraga L, Blennow K, Huisman M, Andreassen OA, Posthuma D, Clarimón J, Boada M, van der Flier WM, Ramirez A, Lambert JC, van der Lee SJ, Ruiz A.
Nat Commun. 2021 Jun 7;12(1):3417.
Predicting outcome in acute myocardial infarction: an analysis investigating 175 circulating biomarkers.
Eggers KM, Lindhagen L, Baron T, Erlinge D, Hjort M, Jernberg T, Marko-Varga G, Rezeli M, Spaak J, Lindahl B.
Eur Heart J Acute Cardiovasc Care. 2021 Jun 7:zuaa014.
Lymph node metastases in breast cancer: investigating associations with tumor characteristics, molecular subtypes, and polygenic risk score using a continuous growth model.
Isheden G, Grassmann F, Czene K, Humphreys K.
Int J Cancer. 2021 Jun 7.
PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders.
Bayat A, Iqbal S, Borredy K, Amiel J, Zweier C, Barcia G, Kraus C, Weyhreter H, Bassuk AG, Chopra M, Rubboli G, Møller RS.
Eur J Hum Genet. 2021 Jun 7.
Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection.
Zekavat SM, Lin SH, Bick AG, Liu A, Paruchuri K, Wang C, Uddin MM, Ye Y, Yu Z, Liu X, Kamatani Y, Bhattacharya R, Pirruccello JP, Pampana A, Loh PR, Kohli P, McCarroll SA, Kiryluk K, Neale B, Ionita-Laza I, Engels EA, Brown DW, Smoller JW, Green R, Karlson EW, Lebo M, Ellinor PT, Weiss ST, Daly MJ; Biobank Japan Project; FinnGen Consortium, Terao C, Zhao H, Ebert BL, Reilly MP, Ganna A, Machiela MJ, Genovese G, Natarajan P.
Nat Med. 2021 Jun 7.
Plasma Protein Profile of Incident Myocardial Infarction, Ischemic Stroke, and Heart Failure in 2 Cohorts.
Lind L, Ärnlöv J, Sundström J.
J Am Heart Assoc. 2021 Jun 5:e017900.
Prediction of type 1 diabetes at birth: cord blood metabolites versus genetic risk score in the MoBa cohort.
Tapia G, Suvitaival T, Ahonen L, Lund-Blix NA, Njølstad PR, Joner G, Skrivarhaug T, Legido-Quigley C, Størdal K, Stene LC.
J Clin Endocrinol Metab. 2021 Jun 4:dgab400.
Association of the MYOC p.(Gln368Ter) Variant With Glaucoma in a Finnish Population.
Liuska PJ, Lemmelä S, Havulinna AS, Kaarniranta K, Uusitalo H, Laivuori H, Kiiskinen T, Daly MJ, Palotie A, Turunen JA; FinnGen Consortium.
JAMA Ophthalmol. 2021 Jun 3.
Polygenic risk scores in psychiatry - Large potential but still limited clinical utility.
Smeland OB, Andreassen OA.
Eur Neuropsychopharmacol. 2021 Jun 3;51:68-70.
Eleven genomic loci affect plasma levels of chronic inflammation marker soluble urokinase-type plasminogen activator receptor.
Dowsett J, Ferkingstad E, Rasmussen LJH, Thørner LW, Magnússon MK, Sugden K, Thorleifsson G, Frigge M, Burgdorf KS, Ostrowski SR, Sørensen E, Erikstrup C, Pedersen OB, Hansen TF, Banasik K, Brunak S; DBDS Genomic Consortium, Tragante V, Lund SH, Stefansdottir L, Gunnarson B, Poulton R, Arseneault L, Caspi A, Moffitt TE, Gudbjartsson D, Eugen-Olsen J, Stefánsson H, Stefánsson K, Ullum H.
Commun Biol. 2021 Jun 2;4(1):655.
Outcome after acute ischemic stroke is linked to sex-specific lesion patterns.
Bonkhoff AK, Schirmer MD, Bretzner M, Hong S, Regenhardt RW, Brudfors M, Donahue KL, Nardin MJ, Dalca AV, Giese AK, Etherton MR, Hancock BL, Mocking SJT, McIntosh EC, Attia J, Benavente OR, Bevan S, Cole JW, Donatti A, Griessenauer CJ, Heitsch L, Holmegaard L, Jood K, Jimenez-Conde J, Kittner SJ, Lemmens R, Levi CR, McDonough CW, Meschia JF, Phuah CL, Rolfs A, Ropele S, Rosand J, Roquer J, Rundek T, Sacco RL, Schmidt R, Sharma P, Slowik A, Söderholm M, Sousa A, Stanne TM, Strbian D, Tatlisumak T, Thijs V, Vagal A, Wasselius J, Woo D, Zand R, McArdle PF, Worrall BB, Jern C, Lindgren AG, Maguire J, Bzdok D, Wu O; MRI-GENIE and GISCOME Investigators and the International Stroke Genetics Consortium, Rost NS.
Nat Commun. 2021 Jun 2;12(1):3289.
Polymorphisms in the TP53-MDM2-MDM4-axis in patients with Rheumatoid Arthritis.
Gansmo LB, Lie BA, Mæhlen MT, Vatten L, Romundstad P, Hveem K, Lønning PE, Knappskog S.
Gene. 2021 May 30:145747.
Early childhood exposure to ambient air pollution is associated with increased risk of paediatric asthma: An administrative cohort study from Stockholm, Sweden.
Olsson D, Forsberg B, Bråbäck L, Geels C, Brandt J, Christensen JH, Frohn LM, Oudin A.
Environ Int. 2021 May 30;155:106667.
Impaired Vitamin D Signaling in T Cells From a Family With Hereditary Vitamin D Resistant Rickets.
Al-Jaberi FAH, Kongsbak-Wismann M, Aguayo-Orozco A, Krogh N, Buus TB, Lopez DV, Rode AKO, Gravesen E, Olgaard K, Brunak S, Woetmann A, Ødum N, Bonefeld CM, Geisler C.
Front Immunol. 2021 May 19;12:684015.
The SWEDEHEART secondary prevention and cardiac rehabilitation registry (SWEDEHEART CR registry).
Bäck M, Leosdottir M, Hagström E, Norhammar A, Hag E, Jernberg T, Wallentin L, Lindahl B, Hambraeus K; SWEDEHEART study group.
Eur Heart J Qual Care Clin Outcomes. 2021 May 12:qcab039.
Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders.
Blokland GAM, Grove J, Chen CY, Cotsapas C, Tobet S, Handa R; Schizophrenia Working Group of the Psychiatric Genomics Consortium, St Clair D, Lencz T, Mowry BJ, Periyasamy S, Cairns MJ, Tooney PA, Wu JQ, Kelly B, Kirov G, Sullivan PF, Corvin A, Riley BP, Esko T, Milani L, Jönsson EG, Palotie A, Ehrenreich H, Begemann M, Steixner-Kumar A, Sham PC, Iwata N, Weinberger DR, Gejman PV, Sanders AR, Buxbaum JD, Rujescu D, Giegling I, Konte B, Hartmann AM, Bramon E, Murray RM, Pato MT, Lee J, Melle I, Molden E, Ophoff RA, McQuillin A, Bass NJ, Adolfsson R, Malhotra AK; Bipolar Disorder Working Group of the Psychiatric Genomics Consortium, Martin NG, Fullerton JM, Mitchell PB, Schofield PR, Forstner AJ, Degenhardt F, Schaupp S, Comes AL, Kogevinas M, Guzman-Parra J, Reif A, Streit F, Sirignano L, Cichon S, Grigoroiu-Serbanescu M, Hauser J, Lissowska J, Mayoral F, Müller-Myhsok B, Świątkowska B, Schulze TG, Nöthen MM, Rietschel M, Kelsoe J, Leboyer M, Jamain S, Etain B, Bellivier F, Vincent JB, Alda M, O'Donovan C, Cervantes P, Biernacka JM, Frye M, McElroy SL, Scott LJ, Stahl EA, Landén M, Hamshere ML, Smeland OB, Djurovic S, Vaaler AE, Andreassen OA; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Baune BT, Air T, Preisig M, Uher R, Levinson DF, Weissman MM, Potash JB, Shi J, Knowles JA, Perlis RH, Lucae S, Boomsma DI, Penninx BWJH, Hottenga JJ, de Geus EJC, Willemsen G, Milaneschi Y, Tiemeier H, Grabe HJ, Teumer A, Van der Auwera S, Völker U, Hamilton SP, Magnusson PKE, Viktorin A, Mehta D, Mullins N, Adams MJ, Breen G, McIntosh AM, Lewis CM; Sex Differences Cross-Disorder Analysis Group of the Psychiatric Genomics Consortium; iPSYCH, Hougaard DM, Nordentoft M, Mors O, Mortensen PB, Werge T, Als TD, Børglum AD, Petryshen TL, Smoller JW, Goldstein JM.
Biol Psychiatry. 2021 Mar 23:S0006-3223(21)01139-2.