MOLECULAR GENETICS

Original articles Vineta Fellman
Högberg U, Andersson J, Squier W, Högberg G, Fellman V, Thiblin I, Wester K.
Epidemiology of subdural haemorrhage during infancy: A population-based register study. PLoS One 13(10): e0206340, 2018 (doi: 10.1371/journal.pone.0206340)
Original articles Juha Kere
Hakonen E, Chandra V, Fogarty CL, Yu NY, Ustinov J, Katayama S, Galli E, Danilova T, Lindholm P, Vartiainen A, Einarsdottir E, Krjutškov K, Kere J, Saarma M, Lindahl M, Otonkoski T. MANF protects human pancreatic beta cells against stress-induced cell death. Diabetologia 61(10): 2202-2214, 2018 (doi: 10.1007/s00125-018-4687-y)
Jääskeläinen T, Kärkkäinen O, Jokkala J, Litonius K, Heinonen S, Auriola S, Lehtonen M, Hanhineva K, Laivuori H; FINNPEC. A Non-Targeted LC-MS Profiling Reveals Elevated Levels of Carnitine Precursors and Trimethylated Compounds in the Cord Plasma of Pre-Eclamptic Infants. Sci Rep 8(1): 14616, 2018 (doi: 10.1038/s41598-018-32804-5)
Kaartokallio T, Utge S, Klemetti MM, Paananen J, Pulkki K, Romppanen J, Tikkanen I, Heinonen S, Kajantie E, Kere J, Kivinen K, Pouta A, Lakkisto P, Laivuori H. Fetal Microsatellite in the Heme Oxygenase 1 Promoter Is Associated with Severe and Early-Onset Preeclampsia. Hypertension 71(1): 95-102, 2018
(doi: 10.1161/HYPERTENSIONAHA.117.10425)
Kalnak N, Stamouli S, Peyrard-Janvid M, Rabkina I, Becker M, Klingberg T, Kere J, Forssberg H, Tammimies K. Enrichment of rare copy number variation in children with developmental language disorder. Clin Genet 94(3-4): 313-320, 2018
(doi: 10.1111/cge.13389)
Katayama S, Ranga V, Jouhilahti EM, Airenne TT, Johnson MS, Mukherjee K, Bürglin TR, Kere J. Phylogenetic and mutational analyses of human LEUTX, a homeobox gene implicated in embryogenesis. Sci Rep 8(1): 17421, 2018 (doi: 10.1038/s41598-018-35547-5)
Khanshour AM, Kou I, Fan Y, Einarsdottir E, Makki N, Kidane YH, Kere J, Grauers A, Johnson TA, Paria N, Patel C, Singhania R, Kamiya N, Takeda K, Otomo N, Watanabe K, Luk KDK, Cheung KMC, Herring JA, Rios JJ, Ahituv N, Gerdhem P, Gurnett CA, Song YQ, Ikegawa S, Wise CA. Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci. Hum Mol Genet 27(22):3 986-3998, 2018
(doi: 10.1093/hmg/ddy306)
Kou I, Watanabe K, Takahashi Y, Momozawa Y, Khanshour A, Grauers A, Zhou H, Liu G, Fan YH, Takeda K, Ogura Y, Zhou T, Iwasaki Y, Kubo M, Wu Z, Matsumoto M; Japan Scoliosis Clinical Research Group (JSCRG); Texas Scottish Rite Hospital for Children Clinical Group (TSRHCCG), Einarsdottir E, Kere J, Huang D, Qiu G, Qiu Y, Wise CA, Song YQ, Wu N, Su P, Gerdhem P, Ikegawa S. A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis. Sci Rep 8(1): 11575, 2018 (doi: 10.1038/s41598-018-29011-7)
Kyriakidis NC, Kockum I, Julkunen H, Hoxha A, Salomonsson S, Meneghel L, Ebbing C; Swedish Congenital Heart Block Study Group, Dilthey A, Eronen M, De Carolis S, Kiserud T, Ruffatti A, Kere J, Meisgen S, Wahren-Herlenius M. European families reveal MHC class I and II associations with autoimmune-mediated congenital heart block. Ann Rheum Dis 77(9): 1381-1382, 2018 (doi: 10.1136/annrheumdis-2018-212953)
Ogura Y, Takeda K, Kou I, Khanshour A, Grauers A, Zhou H, Liu G, Fan YH, Zhou T, Wu Z, Takahashi Y, Matsumoto M; Japan Scoliosis Clinical Research Group (JSCRG); Texas Scottish Rite Hospital for Children Clinical Group (TSRHCCG), Einarsdottir E, Kere J, Huang D, Qiu G, Xu L, Qiu Y, Wise CA, Song YQ, Wu N, Su P, Gerdhem P, Watanabe K, Ikegawa S. An international meta-analysis confirms the association of BNC2 with adolescent idiopathic scoliosis. Sci Rep 8(1): 4730, 2018
(doi: 10.1038/s41598-018-22552-x.)
Pussila M, Törönen P, Einarsdottir E, Katayama S, Krjutškov K, Holm L, Kere J, Peltomäki P, Mäkinen MJ, Linden J, Nyström M. Mlh1 deficiency in normal mouse colon mucosa associates with chromosomally unstable colon cancer. Carcinogenesis 39(6): 88-797, 2018 (doi: 10.1093/carcin/bgy056)
Santos-Cortez RLP, Chiong CM, Frank DN, Ryan AF, Giese APJ, Bootpetch Roberts T, Daly KA, Steritz MJ, Szeremeta W, Pedro M, Pine H, Yarza TKL, Scholes MA, Llanes EGDV, Yousaf S, Friedman N, Tantoco MLC, Wine TM, Labra PJ, Benoit J, Ruiz AG, de la Cruz RAR, Greenlee C, Yousaf A, Cardwell J, Nonato RMA, Ray D, Ong KMC, So E, Robertson CE, Dinwiddie J, Lagrana-Villagracia SM; University of Washington Center for Mendelian Genomics (UWCMG), Gubbels SP, Shaikh RS, Cass SP, Einarsdottir E, Lee NR, Schwartz DA, Gloria-Cruz TLI, Bamshad MJ, Yang IV, Kere J, Abes GT, Prager JD, Riazuddin S, Chan AL, Yoon PJ, Nickerson DA, Cutiongco-de la Paz EM, Streubel SO, Reyes-Quintos MRT, Jenkins HA, Mattila P, Chan KH, Mohlke KL, Leal SM, Hafrén L, Chonmaitree T, Sale MM, Ahmed ZM. FUT2 Variants Confer Susceptibility to Familial Otitis Media. Am J Hum Genet 103(5): 679-690, 2018 (doi: 10.1016/j.ajhg.2018.09.010)
Stenberg Hammar K, Niespodziana K, van Hage M, Kere J, Valenta R, Hedlin G, Söderhäll C. Reduced CDHR3 expression in children wheezing with rhinovirus. Pediatr Allergy Immunol 29(2): 200-206, 2018 (doi: 10.1111/pai.12858)
Sugiaman-Trapman D, Vitezic M, Jouhilahti EM, Mathelier A, Lauter G, Misra S, Daub CO, Kere J, Swoboda P. Characterization of the human RFX transcription factor family by regulatory and target gene analysis. BMC Genomics 19(1): 181, 2018
(doi: 10.1186/s12864-018-4564-6)
Teder H, Koel M, Paluoja P, Jatsenko T, Rekker K, Laisk-Podar T, Kukuškina V, Velthut-Meikas A, Fjodorova O, Peters M, Kere J, Salumets A, Palta P, Krjutškov K.
TAC-seq: targeted DNA and RNA sequencing for precise biomarker molecule counting. NPJ Genom Med 3: 34, 2018 (doi: 10.1038/s41525-018-0072-5)
Tervaniemi MH, Katayama S, Skoog T, Siitonen HA, Vuola J, Nuutila K, Tammimies K, Suomela S, Kankuri E, Kere J, Elomaa O. Intracellular signalling pathways and cytoskeletal functions converge on the psoriasis candidate gene CCHCR1 expressed at P-bodies and centrosomes. BMC Genomics 19(1): 432, 2018
(doi: 10.1186/s12864-018-4810-y)
Weltner J, Balboa D, Katayama S, Bespalov M, Krjutškov K, Jouhilahti EM, Trokovic R, Kere J, Otonkoski T. Human pluripotent reprogramming with CRISPR activators. Nat Commun 9(1): 2643, 2018 (doi: 10.1038/s41467-018-05067-x)
Original articles Anna-Elina Lehesjoki
Carvill GL, Engel KL, Ramamurthy A, Cochran JN, Roovers J, Stamberger H, Lim N, Schneider AL, Hollingsworth G, Holder DH, Regan BM, Lawlor J, Lagae L, Ceulemans B, Bebin EM, Nguyen J; EuroEPINOMICS Rare Epilepsy Syndrome, Myoclonic-Astatic Epilepsy, and Dravet Working Group, Barsh GS, Weckhuysen S, Meisler M, Berkovic SF, De Jonghe P, Scheffer IE, Myers RM, Cooper GM, Mefford HC. Aberrant inclusion of a poison exon causes Dravet syndrome and related SCN1A-associated gentic epilepsies. Am J Hum Genet 103: 1022-1029, 2018 (doi: 10.1016/j.ajhg.2018.10.023)
Heyne HO, Singh T, Stamberger H, Abou Jamra R, Caglayan H, Craiu D, De Jonghe P, Guerrini R, Helbig KL, Koeleman BPC, Kosmicki JA, Linnankivi T, May P, Muhle H, Møller RS, Neubauer BA, Palotie A, Pendziwiat M, Striano P, Tang S, Wu S; EuroEPINOMICS RES Consortium, Poduri A, Weber YG, Weckhuysen S, Sisodiya SM, Daly MJ, Helbig I, Lal D, Lemke JR. De novo variants in neurodevelopmental disorders with epilepsy. Nat Genet 50:1048-1053, 2018 (doi: 10.1038/s41588-018-0143-7)
International League Against Epilepsy Consortium on Complex Epilepsies. Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies. Nat Commun 9: 5269, 2018 (doi: 10.1038/s41467-018-07524-z)
Jabbari K, Bobbili DR, Lal D, Reinthaler EM, Schubert J, Wolking S, Sinha V, Motameny S, Thiele H, Kawalia A, Altmüller J, Toliat MR, Kraaij R, van Rooij J, Uitterlinden AG, Ikram MA; EuroEPINOMICS CoGIE Consortium, Zara F, Lehesjoki AE, Krause R, Zimprich F, Sander T, Neubauer BA, May P, Lerche H, Nürnberg P. Rare gene deletions in genetic generalized and Rolandic epilepsies. PLoS One 13: e0202022, 2018 (doi: 10.1371/journal.pone.0202022)
Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, Mignot C, Afenjar A, Lesca G, Abi-Warde MT, Chelly J, Piton A, Merritt JL 2nd, Rodan LH, Tan WH, Bird LM, Nespeca M, Gleeson JG, Yoo Y, Choi M, Chae JH, Czapansky-Beilman D, Reichert SC, Pendziwiat M, Verhoeven JS, Schelhaas HJ, Devinsky O, Christensen J, Specchio N, Trivisano M, Weber YG, Nava C, Keren B, Doummar D, Schaefer E, Hopkins S, Dubbs H, Shaw JE, Pisani L, Myers CT, Tang S, Tang S, Pal DK, Millichap JJ, Carvill GL, Helbig KL, Mecarelli O, Striano P, Helbig I, Rubboli G, Mefford HC, Møller RS. Defining the phenotypic spectrum of SLC6A1 mutations. Epilepsia 59: 389-402, 2018 (doi: 10.1111/epi.13986)
Knuutinen O, Kousi M, Suo-Palosaari M, Moilanen JS, Tuominen H, Vainionpää L, Joensuu T, Anttonen AK, Uusimaa J, Lehesjoki AE, Vieira P. Neonatal Alexander disease: Novel GFAP mutation and comparison to previously published cases. Neuropediatrics 49: 256-261, 2018 (doi: 10.1055/s-0038-1649500)
May P, Girard S, Harrer M, Bobbili DR, Schubert J, Wolking S, Becker F, Lachance-Touchette P, Meloche C, Gravel M, Niturad CE, Knaus J, De Kovel C, Toliat M, Polvi A, Iacomino M, Guerrero-López R, Baulac S, Marini C, Thiele H, Altmüller J, Jabbari K, Ruppert AK, Jurkowski W, Lal D, Rusconi R, Cestèle S, Terragni B, Coombs ID, Reid CA, Striano P, Caglayan H, Siren A, Everett K, Møller RS, Hjalgrim H, Muhle H, Helbig I, Kunz WS, Weber YG, Weckhuysen S, Jonghe P, Sisodiya SM, Nabbout R, Franceschetti S, Coppola A, Vari MS, Kasteleijn-Nolst Trenité D, Baykan B, Ozbek U, Bebek N, Klein KM, Rosenow F, Nguyen DK, Dubeau F, Carmant L, Lortie A, Desbiens R, Clément JF, Cieuta-Walti C, Sills GJ, Auce P, Francis B, Johnson MR, Marson AG, Berghuis B, Sander JW, Avbersek A, McCormack M, Cavalleri GL, Delanty N, Depondt C, Krenn M, Zimprich F, Peter S, Nikanorova M, Kraaij R, van Rooij J, Balling R, Ikram MA, Uitterlinden AG, Avanzini G, Schorge S, Petrou S, Mantegazza M, Sander T, LeGuern E, Serratosa JM, Koeleman BPC, Palotie A, Lehesjoki AE, Nothnagel M, Nürnberg P, Maljevic S, Zara F, Cossette P, Krause R, Lerche H; Epicure Consortium; EuroEPINOMICS CoGIE Consortium; EpiPGX Consortium. Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study. Lancet Neurol 17: 699-708, 2018 (doi: 10.1016/S1474-4422(18)30215-1)
Smith RS, Kenny CJ, Ganesh V, Jang A, Borges-Monroy R, Partlow JN, Hill RS, Shin T, Chen AY, Doan RN, Anttonen AK, Ignatius J, Medne L, Bönnemann CG, Hecht JL, Salonen O, Barkovich AJ, Poduri A, Wilke M, de Wit MCY, Mancini GMS, Sztriha L, Im K, Amrom D, Andermann E, Paetau R, Lehesjoki AE, Walsh CA, Lehtinen MK. Sodium channel SCN3A (NaV1.3) regulation of human cerebral cortical folding and oral motor development. Neuron 99: 905-913, 2018 (doi: 10.1016/j.neuron.2018.07.052)
Turunen JA, Wedenoja J, Repo P, Järvinen RS, Jäntti JE, Mörtenhumer S, Riikonen AS, Lehesjoki AE, Majander A, Kivelä TT. Keratoendotheliitis fugax hereditaria: a novel cryopyrin-associated periodic syndrome caused by a mutation in the nucleotide-binding domain, leucine-rich repeat family, pyrin domain-containing 3 (NLRP3) gene. Am J Ophthalmol 188: 41-50, 2018 (doi: 10.1016/j.ajo.2018.01.017)
Other publications Anna-Elina Lehesjoki
Turunen J, Wedenoja J, Repo P, Järvinen RS, Jäntti JE, Mörtenhumer S, Riikonen AS, Lehesjoki AE, Majander A, Kivelä T. Inflammasomigeeni NLRP3:n mutaatio aiheuttaa periytyvän sarveiskalvotulehduksen. Duodecim 134: 748, 2018
Original articles Maija Wessman
Gormley P, Kurki MI, Hiekkala ME, Veerapen K, Häppölä P, Mitchell AA, Lal D, Palta P, Surakka I, Kaunisto MA, Hämäläinen E, Vepsäläinen S, Havanka H, Harno H, Ilmavirta M, Nissilä M, Säkö E, Sumelahti ML, Liukkonen J, Sillanpää M, Metsähonkala L, Koskinen S, Lehtimäki T, Raitakari O, Männikkö M, Ran C, Belin AC, Jousilahti P, Anttila V, Salomaa V, Artto V, Färkkilä M; 23andMe Research Team; International Headache Genetics Consortium (IHGC), Runz H, Daly MJ, Neale BM, Ripatti S, Kallela M, Wessman M, Palotie A. Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families. Neuron 98(4): 743-753.e4, 2018 (doi: 10.1016/j.neuron.2018.04.014)
Gormley P, Kurki MI, Hiekkala ME, Veerapen K, Häppölä P, Mitchell AA, Lal D, Palta P, Surakka I, Kaunisto MA, Hämäläinen E, Vepsäläinen S, Havanka H, Harno H, Ilmavirta M, Nissilä M, Säkö E, Sumelahti ML, Liukkonen J, Sillanpää M, Metsähonkala L, Koskinen S, Lehtimäki T, Raitakari O, Männikkö M, Ran C, Belin AC, Jousilahti P, Anttila V, Salomaa V, Artto V, Färkkilä M; 23andMe Research Team; International Headache Genetics Consortium (IHGC), Runz H, Daly MJ, Neale BM, Ripatti S, Kallela M, Wessman M, Palotie A. Erratum: Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families. Neuron 99(5): 1098, 2018 (doi: 10.1016/j.neuron.2018.08.029)
Hiekkala ME, Vuola P, Artto V, Häppölä P, Häppölä E, Vepsäläinen S, Cuenca-León E, Lal D, Gormley P, Hämäläinen E, Ilmavirta M, Nissilä M, Säkö E, Sumelahti ML, Harno H, Havanka H, Keski-Säntti P, Färkkilä M, Palotie A, Wessman M, Kaunisto MA, Kallela M. The contribution of CACNA1A, ATP1A2 and SCN1A mutations in hemiplegic migraine: A clinical and genetic study in Finnish migraine families. Cephalalgia 38(12): 1849-1863, 2018 (doi: 10.1177/0333102418761041)
Yang Y, Zhao H, Boomsma DI, Ligthart L, Belin AC, Smith GD, Esko T, Freilinger TM, Hansen TF, Ikram MA, Kallela M, Kubisch C, Paraskevi C, Strachan DP, Wessman M; International Headache Genetics Consortium, van den Maagdenberg AMJM, Terwindt GM, Nyholt DR. Molecular genetic overlap between migraine and major depressive disorder. Eur J Hum Genet 26(8): 1202-1216, 2018
(doi: 10.1038/s41431-018-0150-2)
Other publications Maija Wessman
Anttila V, Wessman M, Kallela M, Palotie A. Genetics of migraine. Handb Clin Neurol 148: 493-503, 2018 (doi: 10.1016/B978-0-444-64076-5.00031-4) (Review)
Original articles Hannes Lohi
Bauer A, Jagannathan V, Högler S, Richter B, McEwan NA, Thomas A, Cadieu E, André C, Hytönen MK, Lohi H, Welle MM, Roosje P, Mellersh C, Casal ML, Leeb T. MKLN1 splicing defect in dogs with lethal acrodermatitis. PLoS Genet 14(3): e1007264, 2018 (doi: 10.1371/journal.pgen.1007264)
Donner J, Anderson H, Davison S, Hughes AM, Bouirmane J, Lindqvist J, Lytle KM, Ganesan B, Ottka C, Ruotanen P, Kaukonen M, Forman OP, Fretwell N, Cole CA, Lohi H. Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs. PLoS Genet 14(4): e1007361, 2018
(doi: 10.1371/journal.pgen.1007361)
Dürig N, Letko A, Lepori V, Hadji Rasouliha S, Loechel R, Kehl A, Hytönen MK, Lohi H, Mauri N, Dietrich J, Wiedmer M, Drögemüller M, Jagannathan V, Schmutz SM, Leeb T. Two MC1R loss-of-function alleles in cream-coloured Australian Cattle Dogs and white Huskies. Anim Genet 49(4): 284-290, 2018 (doi: 10.1111/age.12660)
Eskola M, Vaara ST, Korhonen AM, Sauranen J, Koivuviita N, Honkanen E, Pettilä V, Haapio M; FINNAKI Study Group. One- and three-year outcomes in patients treated with intermittent hemodialysis for acute kidney injury: prospective observational multicenter post-hoc FINNAKI study. Acta Anaesthesiol Scand 62(10): 1452-1459, 2018 (doi: 10.1111/aas.13203)
Gandolfi B, Alhaddad H, Abdi M, Bach LH, Creighton EK, Davis BW, Decker JE, Dodman NH, Grahn JC, Grahn RA, Haase B, Haggstrom J, Hamilton MJ, Helps CR, Kurushima JD, Lohi H, Longeri M, Malik R, Meurs KM, Montague MJ, Mullikin JC, Murphy WJ, Nilson SM, Pedersen NC, Peterson CB, Rusbridge C, Saif R, Shelton GD, Warren WC, Wasim M, Lyons LA. Applications and efficiencies of the first cat 63K DNA array. Sci Rep 8(1): 7024, 2018 (doi: 10.1038/s41598-018-25438-0)
Gandolfi B, Alhaddad H, Abdi M, Bach LH, Creighton EK, Davis BW, Decker JE, Dodman NH, Grahn JC, Grahn RA, Haase B, Haggstrom J, Hamilton MJ, Helps CR, Kurushima JD, Lohi H, Longeri M, Malik R, Meurs KM, Montague MJ, Mullikin JC, Murphy WJ, Nilson SM, Pedersen NC, Peterson CB, Rusbridge C, Saif R, Shelton GD, Warren WC, Wasim M, Lyons LA. Author Correction: Applications and efficiencies of the first cat 63K DNA array. Sci Rep 8(1): 8746, 2018 (doi: 10.1038/s41598-018-26885-5)
Genova F, Longeri M, Lyons LA, Bagnato A; 99Lives Consortium, Strillacci MG.
First genome-wide CNV mapping in FELIS CATUS using next generation sequencing data. BMC Genomics 19(1): 5, 2018 (doi: 10.1186/s12864-018-5297-2)
Hakanen E, Lehtimäki J, Salmela E, Tiira K, Anturaniemi J, Hielm-Björkman A, Ruokolainen L, Lohi H. Urban environment predisposes dogs and their owners to allergic symptoms. Sci Rep 8(1): 1585, 2018 (doi: 10.1038/s41598-018-19953-3)
Holden LA, Arumilli M, Hytönen MK, Hundi S, Salojärvi J, Brown KH, Lohi H. Assembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in Dogs. Sci Rep 8(1): 10862, 2018 (doi: 10.1038/s41598-018-29190-3)
Holden LA, Arumilli M, Hytönen MK, Hundi S, Salojärvi J, Brown KH, Lohi H. Author Correction: Assembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in Dogs. Sci Rep 8(1):1 1853, 2018 (doi: 10.1038/s41598-018-30169-3)
Höglund K, Häggström J, Hanås S, Merveille AC, Gouni V, Wiberg M, Lundgren Willesen J, Entee KM, Mejer Sørensen L, Tiret L, Seppälä EH, Lohi H, Chetboul V, Fredholm M, Lequarré AS, Ljungvall I. Interbreed variation in serum serotonin (5-hydroxytryptamine) concentration in healthy dogs. J Vet Cardiol 20(4): 244-253, 2018
(doi: 10.1016/j.jvc.2018.05.002)
Kaukonen M, Woods S, Ahonen S, Lemberg S, Hellman M, Hytönen MK, Permi P, Glaser T, Lohi H. Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease. Cell Rep 23(9): 2643-2652, 2018 (doi: 10.1016/j.celrep.2018.04.118)
Lehtimäki J, Sinkko H, Hielm-Björkman A, Salmela E, Tiira K, Laatikainen T, Mäkeläinen S, Kaukonen M, Uusitalo L, Hanski I, Lohi H, Ruokolainen L. Skin microbiota and allergic symptoms associate with exposure to environmental microbes. Proc Natl Acad Sci U S A 115(19): 897-4902, 2018 (doi: 10.1073/pnas.1719785115)
Oh A, Pearce JW, Gandolfi B, Creighton EK, Suedmeyer WK, Selig M, Bosiack AP, Castaner LJ, Whiting REH, Belknap EB, Lyons LA; 99 Lives Consortium. Corrigendum: Early-Onset Progressive Retinal Atrophy Associated with an IQCB1 Variant in African Black-Footed Cats (Felis nigripes). Sci Rep 8: 46978, 2018
(doi: 10.1038/srep46978)
Puurunen J, Tiira K, Vapalahti K, Lehtonen M, Hanhineva K, Lohi H. Fearful dogs have increased plasma glutamine and γ-glutamyl glutamine. Sci Rep 8(1): 15976, 2018 (doi: 10.1038/s41598-018-34321-x)
Quitt PR, Hytönen MK, Matiasek K, Rosati M, Fischer A, Lohi H. Myotonia congenita in a Labrador Retriever with truncated CLCN1. Neuromuscul Disord 28(7): 597-605, 2018 (doi: 10.1016/j.nmd.2018.05.002)
Wasenius NS, Laine MK, Savola S, Simonen M, Tiira K, Lohi H, Eriksson JG, Salonen MK. Dog Ownership from a Life Course Perspective and Leisure-time Physical Activity in Late Adulthood: The Helsinki Birth Cohort Study. Am J Health Behav 42(6): 11-18, 2018 (doi: 10.5993/AJHB.42.6.2)
Wielaender F, James FMK, Cortez MA, Kluger G, Neßler JN, Tipold A, Lohi H, Fischer A. Absence Seizures as a Feature of Juvenile Myoclonic Epilepsy in Rhodesian Ridgeback Dogs. J Vet Intern Med 32(1): 428-432, 2018 (doi: 10.1111/jvim.14892)
Original articles Outi Mäkitie

Ain NU, Makitie O, Naz S. Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant. J Med Genet 55(6): 403-407, 2018 (doi: 10.1136/jmedgenet-2017-104885)
Arponen H, Bachour A, Bäck L, Valta H, Mäkitie A, Waltimo-Sirén J, Mäkitie O.
Is sleep apnea underdiagnosed in adult patients with osteogenesis imperfecta? -a single-center cross-sectional study. Orphanet J Rare Dis 13(1): 231, 2018
(doi: 10.1186/s13023-018-0971-7)
Arponen H, Waltimo-Sirén J, Valta H, Mäkitie O. Fatigue and disturbances of sleep in patients with osteogenesis imperfecta - a cross-sectional questionnaire study. BMC Musculoskelet Disord 19(1): 3, 2018 (doi: 10.1186/s12891-017-1922-5)
Bruserud Ø, Costea DE, Laakso S, Garty BZ, Mathisen E, Mäkitie A, Mäkitie O, Husebye ES. Oral Tongue Malignancies in Autoimmune Polyendocrine Syndrome Type 1. Front Endocrinol (Lausanne) 9: 463, 2018 (doi: 10.3389/fendo.2018.00463)
Costantini A, Krallis PΝ, Kämpe A, Karavitakis EM, Taylan F, Mäkitie O, Doulgeraki A. A novel frameshift deletion in PLS3 causing severe primary osteoporosis. J Hum Genet 63(8): 923-926, 2018 (doi: 10.1038/s10038-018-0472-5)
Costantini A, Skarp S, Kämpe A, Mäkitie RE, Pettersson M, Männikkö M, Jiao H, Taylan F, Lindstrand A, Mäkitie O. Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility. Front Endocrinol (Lausanne) 10;9: 380, 2018 (doi: 10.3389/fendo.2018.00380)
Costantini A, Tournis S, Kämpe A, Ul Ain N, Taylan F, Doulgeraki A, Mäkitie O.
Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation. Calcif Tissue Int 103(3): 353-358, 2018 (doi: 10.1007/s00223-018-0414-4)
Costantini A, Wallgren-Pettersson C, Mäkitie O. Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7. Eur J Med Genet 61(10): 612-615, 2018 (doi: 10.1016/j.ejmg.2018.04.004)
Gorvin CM, Hannan FM, Cranston T, Valta H, Makitie O, Schalin-Jantti C, Thakker RV. Cinacalcet Rectifies Hypercalcemia in a Patient with Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss-of-Function Gα11 Mutation. J Bone Miner Res 33(1): 32-41, 2018 (doi: 10.1002/jbmr.3241)
Hauta-Alus HH, Holmlund-Suila EM, Rita HJ, Enlund-Cerullo M, Rosendahl J, Valkama SM, Helve OM, Hytinantti TK, Surcel HM, Mäkitie OM, Andersson S, Viljakainen HT. Season, dietary factors, and physical activity modify 25-hydroxyvitamin D concentration during pregnancy. Eur J Nutr 57(4): 1369-1379, 2018 (doi: 10.1007/s00394-017-1417-z)
Holopainen E, Vakkilainen S, Mäkitie O. Diversity of Pubertal Development in Cartilage-Hair Hypoplasia; Two Illustrative Cases. J Pediatr Adolesc Gynecol 31(4): 422-425, 2018 (doi: 10.1016/j.jpag.2018.02.128)
Holopainen E, Vakkilainen S, Mäkitie O. Gynecologic assessment of 19 adult females with cartilage-hair hypoplasia - high rate of HPV positivity. Orphanet J Rare Dis 13(1): 207, 2018 (doi: 10.1186/s13023-018-0945-9)
Kausar M, Siddiqi S, Yaqoob M, Mansoor S, Makitie O, Mir A, Khor CC, Foo JN, Anees M. Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta. J Biomed Sci 25(1): 82, 2018 (doi: 10.1186/s12929-018-0481-x)
Laakso S, Viljakainen H, Lipsanen-Nyman M, Turpeinen U, Ivaska KK, Anand-Ivell R, Ivell R, Mäkitie O. Testicular Function and Bone in Young Men with Severe Childhood-Onset Obesity. Horm Res Paediatr 89(6): 442-449, 2018
(doi: 10.1159/000489818)
Loid P, Långström S, Viljakainen H, Mäkipernaa A, Heikinheimo M, Mäkitie O.
Prothrombotic state in young females with severe early-onset obesity. Pediatr Res 83(1-1): 2-4, 2018 (doi: 10.1038/pr.2017.248)
Loid P, Mäkitie R, Costantini A, Viljakainen H, Pekkinen M, Mäkitie O. A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability. Am J Med Genet A. 2018 Sep;176(9):1972-1975. doi: 10.1002/ajmg.a.40370
Mäkitie RE, Hackl M, Niinimäki R, Kakko S, Grillari J, Mäkitie O. Altered MicroRNA Profile in Osteoporosis Caused by Impaired WNT Signaling. J Clin Endocrinol Metab 103(5): 1985-1996, 2018 (doi: 10.1210/jc.2017-02585)
Mäkitie RE, Niinimäki R, Kakko S, Honkanen T, Kovanen PE, Mäkitie O. Defective WNT signaling associates with bone marrow fibrosis-a cross-sectional cohort study in a family with WNT1 osteoporosis. Osteoporos Int 29(2):479-487, 2018
(doi: 10.1007/s00198-017-4309-4)
Nazaryan-Petersen L, Eisfeldt J, Pettersson M, Lundin J, Nilsson D, Wincent J, Lieden A, Lovmar L, Ottosson J, Gacic J, Mäkitie O, Nordgren A, Vezzi F, Wirta V, Käller M, Hjortshøj TD, Jespersgaard C, Houssari R, Pignata L, Bak M, Tommerup N, Lundberg ES, Tümer Z, Lindstrand A. Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization. PLoS Genet 14(11): e1007780, 2018 (doi: 10.1371/journal.pgen.1007780)
Rosendahl J, Valkama S, Holmlund-Suila E, Enlund-Cerullo M, Hauta-Alus H, Helve O, Hytinantti T, Levälahti E, Kajantie E, Viljakainen H, Mäkitie O, Andersson S.
Effect of Higher vs Standard Dosage of Vitamin D3 Supplementation on Bone Strength and Infection in Healthy Infants: A Randomized Clinical Trial. JAMA Pediatr 172(7): 646-654, 2018 (doi: 10.1001/jamapediatrics.2018.0602)
Saarnio E, Pekkinen M, Itkonen ST, Kemi V, Karp H, Ivaska KK, Risteli J, Koivula MK, Kärkkäinen M, Mäkitie O, Sievänen H, Lamberg-Allardt C. Low free 25-hydroxyvitamin D and high vitamin D binding protein and parathyroid hormone in obese Caucasians. A complex association with bone? PLoS One 13(2): e0192596, 2018 (doi: 10.1371/journal.pone.0192596)
Utriainen P, Valta H, Björnsdottir S, Mäkitie O, Horemuzova E. Polyostotic Fibrous Dysplasia with and Without McCune-Albright Syndrome-Clinical Features in a Nordic Pediatric Cohort. Front Endocrinol (Lausanne) 9: 96, 2018 (doi: 10.3389/fendo.2018.00096)
Vakkilainen S, Mäkitie R, Klemetti P, Valta H, Taskinen M, Husebye ES, Mäkitie O. A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients with Cartilage-Hair Hypoplasia. Front Immunol 9: 2468, 2018 (doi: 10.3389/fimmu.2018.02468)
Other publications Outi Mäkitie
Mäkitie O, Vakkilainen S. Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. 2012 Mar 15 [updated 2018 May 24]
Original articles Bjarne Udd
Al-Tahan S, Al-Obeidi E, Yoshioka H, Lakatos A, Weiss L, Grafe M, Palmio J, Wicklund M, Harati Y, Omizo M, Udd B, Kimonis V. Novel valosin-containing protein mutations associated with multisystem proteinopathy. Neuromuscul Disord 28(6): 491-501, 2018 (doi: 10.1016/j.nmd.2018.04.007)
Ávila-Polo R, Malfatti E, Lornage X, Cheraud C, Nelson I, Nectoux J, Böhm J, Schneider R, Hedberg-Oldfors C, Eymard B, Monges S, Lubieniecki F, Brochier G, Thao Bui M, Madelaine A, Labasse C, Beuvin M, Lacène E, Boland A, Deleuze JF, Thompson J, Richard I, Taratuto AL, Udd B, Leturcq F, Bonne G, Oldfors A, Laporte J, Romero NB. Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies. J Neuropathol Exp Neurol 77(12): 1101-1114, 2018 (doi: 10.1093/jnen/nly095)
Castiglioni C, Fattori F, Udd B, de Los Angeles Avaria M, Suarez B, D'Amico A, Malandrini A, Carrozzo R, Verrigni D, Bertini E, Tasca G. Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants. Eur J Hum Genet 26(3): 367-373, 2018 (doi: 10.1038/s41431-017-0003-4)
Genin EC, Bannwarth S, Lespinasse F, Ortega-Vila B, Fragaki K, Itoh K, Villa E, Lacas-Gervais S, Jokela M, Auranen M, Ylikallio E, Mauri-Crouzet A, Tyynismaa H, Vihola A, Augé G, Cochaud C, Sesaki H, Ricci JE, Udd B, Vives-Bauza C, Paquis-Flucklinger V. Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases. Neurobiol Dis 119: 159-171, 2018 (doi: 10.1016/j.nbd.2018.07.027)
Jonson PH, Palmio J, Johari M, Penttilä S, Evilä A, Nelson I, Bonne G, Wiart N, Meyer V, Boland A, Deleuze JF, Masson C, Stojkovic T, Chapon F, Romero NB, Solé G, Ferrer X, Ferreiro A, Hackman P, Richard I, Udd B. Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families. Eur J Neurol 25(5): 790-794, 2018 (doi: 10.1111/ene.13598)
Lee Y, Jonson PH, Sarparanta J, Palmio J, Sarkar M, Vihola A, Evilä A, Suominen T, Penttilä S, Savarese M, Johari M, Minot MC, Hilton-Jones D, Maddison P, Chinnery P, Reimann J, Kornblum C, Kraya T, Zierz S, Sue C, Goebel H, Azfer A, Ralston SH, Hackman P, Bucelli RC, Taylor JP, Weihl CC, Udd B. TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations. J Clin Invest 128(3): 1164-1177, 2018 (doi: 10.1172/JCI97103)
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG. Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Ann Neurol 83(6): 1105-1124, 2018 (doi: 10.1002/ana.25241)
Sagath L, Lehtokari VL, Välipakka S, Udd B, Wallgren-Pettersson C, Pelin K, Kiiski K. An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders. J Neuromuscul Dis 5(3): 307-314, 2018 (doi: 10.3233/JND-170298)
Savarese M, Jonson PH, Huovinen S, Paulin L, Auvinen P, Udd B, Hackman P.
The complexity of titin splicing pattern in human adult skeletal muscles. Skelet Muscle 8(1): 11, 2018 (doi: 10.1186/s13395-018-0156-z)
Savarese M, Maggi L, Vihola A, Jonson PH, Tasca G, Ruggiero L, Bello L, Magri F, Giugliano T, Torella A, Evilä A, Di Fruscio G, Vanakker O, Gibertini S, Vercelli L, Ruggieri A, Antozzi C, Luque H, Janssens S, Pasanisi MB, Fiorillo C, Raimondi M, Ergoli M, Politano L, Bruno C, Rubegni A, Pane M, Santorelli FM, Minetti C, Angelini C, De Bleecker J, Moggio M, Mongini T, Comi GP, Santoro L, Mercuri E, Pegoraro E, Mora M, Hackman P, Udd B, Nigro V. Interpreting Genetic Variants in Titin in Patients With Muscle Disorders. JAMA Neurol 75(5): 557-565, 2018 (doi: 10.1001/jamaneurol.2017.4899)
Savarese M, Torella A, Musumeci O, Angelini C, Astrea G, Bello L, Bruno C, Comi GP, Di Fruscio G, Piluso G, Di Iorio G, Ergoli M, Esposito G, Fanin M, Farina O, Fiorillo C, Garofalo A, Giugliano T, Magri F, Minetti C, Moggio M, Passamano L, Pegoraro E, Picillo E, Sampaolo S, Santorelli FM, Semplicini C, Udd B, Toscano A, Politano L, Nigro V. Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease. Neuromuscul Disord 28(7): 586-591, 2018 (doi: 10.1016/j.nmd.2018.03.011)
Sellier C, Cerro-Herreros E, Blatter M, Freyermuth F, Gaucherot A, Ruffenach F, Sarkar P, Puymirat J, Udd B, Day JW, Meola G, Bassez G, Fujimura H, Takahashi MP, Schoser B, Furling D, Artero R, Allain FHT, Llamusi B, Charlet-Berguerand N. rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences. Nat Commun 9(1): 2009, 2018
(doi: 10.1038/s41467-018-04370-x)
Straub V, Murphy A, Udd B; LGMD workshop study group. 229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. Neuromuscul Disord 28(8): 702-710, 2018 (doi: 10.1016/j.nmd.2018.05.007)
Tasca G, Monforte M, Díaz-Manera J, Brisca G, Semplicini C, D'Amico A, Fattori F, Pichiecchio A, Berardinelli A, Maggi L, Maccagnano E, Løkken N, Marini-Bettolo C, Munell F, Sanchez A, Alshaikh N, Voermans NC, Dastgir J, Vlodavets D, Haberlová J, Magnano G, Walter MC, Quijano-Roy S, Carlier RY, van Engelen BGM, Vissing J, Straub V, Bönnemann CG, Mercuri E, Muntoni F, Pegoraro E, Bertini E, Udd B, Ricci E, Bruno C. MRI in sarcoglycanopathies: a large international cohort study. J Neurol Neurosurg Psychiatry 89(1): 72-77, 2018 (doi: 10.1136/jnnp-2017-316736)
Weihl CC, Udd B, Hanna M; ENMC workshop study group. 234th ENMC International Workshop: Chaperone dysfunction in muscle disease Naarden, The Netherlands, 8-10 December 2017. Neuromuscul Disord 28(12): 1022-1030, 2018
Other publications Bjarne Udd
Tasca G, Udd B. Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough. Neuromuscul Disord 28(3): 268-276, 2018 (doi: 10.1016/j.nmd.2017.12.002) (Review)
Original articles Carina Wallgren-Pettersson
Costantini A, Wallgren-Pettersson C, Mäkitie O. Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7. Eur J Med Genet 61(10): 612-615, 2018 (doi: 10.1016/j.ejmg.2018.04.004)
Johnson K, Bertoli M, Phillips L, Töpf A, Van den Bergh P, Vissing J, Witting N, Nafissi S, Jamal-Omidi S, Łusakowska A, Kostera-Pruszczyk A, Potulska-Chromik A, Deconinck N, Wallgren-Pettersson C, Strang-Karlsson S, Colomer J, Claeys KG, De Ridder W, Baets J, von der Hagen M, Fernández-Torrón R, Zulaica Ijurco M, Espinal Valencia JB, Hahn A, Durmus H, Willis T, Xu L, Valkanas E, Mullen TE, Lek M, MacArthur DG, Straub V. Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. Skelet Muscle 8(1): 23, 2018 (doi: 10.1186/s13395-018-0170-1)
Lam LT, Holt I, Laitila J, Hanif M, Pelin K, Wallgren-Pettersson C, Sewry CA, Morris GE. Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation. Sci Rep 8(1): 15728, 2018 (doi: 10.1038/s41598-018-33281-6)
Lehtokari VL, Gardberg M, Pelin K, Wallgren-Pettersson C. Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene. Neuromuscul Disord 28(4): 323-326, 2018 (doi: 10.1016/j.nmd.2017.12.009)
Rogers A, Golumbek P, Cellini E, Doccini V, Guerrini R, Wallgren-Pettersson C, Thuresson AC, Gurnett CA. De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants. Am J Med Genet A 176(8): 1748-1752, 2018 (doi: 10.1002/ajmg.a.38840)
Sagath L, Lehtokari VL, Välipakka S, Udd B, Wallgren-Pettersson C, Pelin K, Kiiski K. An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders. J Neuromuscul Dis 5(3): 307-314, 2018 (doi: 10.3233/JND-170298)
Strang-Karlsson S, Johnson K, Töpf A, Xu L, Lek M, MacArthur DG, Casar-Borota O, Williams M, Straub V, Wallgren-Pettersson C. A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair. Neuromuscul Disord 28(7): 614-618, 2018 (doi: 10.1016/j.nmd.2018.04.012)
Yates TM, Suri M, Desurkar A, Lesca G, Wallgren-Pettersson C, Hammer TB, Raghavan A, Poulat AL, Møller RS, Thuresson AC, Balasubramanian M. SLC35A2-related congenital disorder of glycosylation: Defining the phenotype. Eur J Paediatr Neurol 22(6): 1095-1102, 2018 (doi: 10.1016/j.ejpn.2018.08.002).

GENETIC EPIDEMIOLOGY

Original articles Elisabete Weiderpass
71 articles not related with the FinHit Project / Genetic Epidemiology Project /without the Folkhälsan Research Center affiliation
Page CM, Vos L, Rounge TB, Harbo HF, Andreassen BK. Assessing genome-wide significance for the detection of differentially methylated regions. Stat Appl Genet Mol Biol 17(5) pii: /j/sagmb.2018.17.issue-5/sagmb-2017-0050/sagmb-2017-0050.xml, 2018 (doi: 10.1515/sagmb-2017-0050)
Raju SC, Lagström S, Ellonen P, de Vos WM, Eriksson JG, Weiderpass E, Rounge TB. Reproducibility and repeatability of six high-throughput 16S rDNA sequencing protocols for microbiota profiling. Microbiol Methods 147: 76-86 2018 
(doi: 10.1016/j.mimet.2018.03.003)
Original articles Heli Viljakainen
Hauta-Alus HH, Holmlund-Suila EM, Rita HJ, Enlund-Cerullo M, Rosendahl J, Valkama SM, Helve OM, Hytinantti TK, Surcel HM, Mäkitie OM, Andersson S, Viljakainen HT. Season, dietary factors, and physical activity modify 25-hydroxyvitamin D concentration during pregnancy. Eur J Nutr 57(4): 1369-1379, 2018 (doi: 10.1007/s00394-017-1417-z)
Laakso S, Viljakainen H, Lipsanen-Nyman M, Turpeinen U, Ivaska KK, Anand-Ivell R, Ivell R, Mäkitie O. Testicular Function and Bone in Young Men with Severe Childhood-Onset Obesity. Horm Res Paediatr 89(6): 442-449, 2018
(doi: 10.1159/000489818)
Loid P, Långström S, Viljakainen H, Mäkipernaa A, Heikinheimo M, Mäkitie O.
Prothrombotic state in young females with severe early-onset obesity. Pediatr Res 83(1-1): 2-4, 2018 (doi: 10.1038/pr.2017.248)
Rosendahl J, Valkama S, Holmlund-Suila E, Enlund-Cerullo M, Hauta-Alus H, Helve O, Hytinantti T, Levälahti E, Kajantie E, Viljakainen H, Mäkitie O, Andersson S.
Effect of Higher vs Standard Dosage of Vitamin D3 Supplementation on Bone Strength and Infection in Healthy Infants: A Randomized Clinical Trial. JAMA Pediatr 172(7): 646-654, 2018 (doi: 10.1001/jamapediatrics.2018.0602)
Valkama AJ, Meinilä JM, Koivusalo SB, Lindström J, Rönö K, Tiitinen AE, Stach-Lempinen B, Kautiainen HJ, Viljakainen H, Andersson S, Eriksson JG. Body size modifies the relationship between maternal serum 25-hydroxyvitamin D concentrations and gestational diabetes in high-risk women. Eur J Clin Nutr 72(3): 460-463, 2018 
(doi: 10.1038/s41430-017-0010-0)

DIABETES GENETICS

Original articles Per-Henrik Groop
Ahola AJ, Forsblom C, Groop PH. Adherence to special diets and its association with meeting the nutrient recommendations in individuals with type 1 diabetes. Acta Diabetol 55(8): 843-851, 2018 (doi: 10.1007/s00592-018-1159-2)
Ahola AJ, Forsblom C, Groop PH; FinnDiane Study Group. Association between depressive symptoms and dietary intake in patients with type 1 diabetes. Diabetes Res Clin Pract 139: 91-99, 2018 (doi: 10.1016/j.diabres.2018.02.018)
Ahola AJ, Gordin D, Forsblom C, Groop PH; FinnDiane Study Group. Association between diet and measures of arterial stiffness in type 1 diabetes - Focus on dietary patterns and macronutrient substitutions. Nutr Metab Cardiovasc Dis 28(11): 1166-1172, 2018 (doi: 10.1016/j.numecd.2018.07.003)
Feodoroff M, Harjutsalo V, Forsblom C, Groop PH; FinnDiane Study Group. Dose-dependent effect of smoking on risk of coronary heart disease, heart failure and stroke in individuals with type 1 diabetes. Diabetologia 61(12): 2580-2589, 2018 
(doi: 10.1007/s00125-018-4725-9)
Gordin D, Harjutsalo V, Tinsley L, Fickweiler W, Sun JK, Forsblom C, Amenta PS, Pober D, D'Eon S, Khatri M, Stillman IE, Groop PH, Keenan HA, King GL.
Differential Association of Microvascular Attributions with Cardiovascular Disease in Patients with Long Duration of Type 1 Diabetes. Diabetes Care 41(4): 815-822, 2018 
(doi: 10.2337/dc17-2250)
Groop PH, Thomas M, Feodoroff M, Forsblom C, Harjutsalo V; FinnDiane Study Group. Excess Mortality in Patients with Type 1 Diabetes Without Albuminuria-Separating the Contribution of Early and Late Risks. Diabetes Care 41(4): 748-754 2018 (doi: 10.2337/dc17-1618)
Harjutsalo V, Thomas MC, Forsblom C, Groop PH; FinnDiane Study Group. Risk of coronary artery disease and stroke according to sex and presence of diabetic nephropathy in type 1 diabetes. Diabetes Obes Metab 20(12): 2759-2767, 2018 
(doi: 10.1111/dom.13456)
Haukka JK, Sandholm N, Forsblom C, Cobb JE, Groop PH, Ferrannini E. Metabolomic Profile Predicts Development of Microalbuminuria in Individuals with Type 1 Diabetes. Sci Rep 8(1): 13853, 2018 (doi: 10.1038/s41598-018-32085-y)
Helve J, Sund R, Arffman M, Harjutsalo V, Groop PH, Grönhagen-Riska C, Finne P.
Incidence of End-Stage Renal Disease in Patients with Type 1 Diabetes. Diabetes Care 41(3): 434-439, 2018 (doi: 10.2337/dc17-2364)
Jansson FJ, Forsblom C, Harjutsalo V, Thorn LM, Wadén J, Elonen N, Ahola AJ, Saraheimo M, Groop PH; FinnDiane Study Group. Regression of albuminuria and its association with incident cardiovascular outcomes and mortality in type 1 diabetes: the FinnDiane Study. Diabetologia 61(5):1203-1211, 2018 (doi: 10.1007/s00125-018-4564-8)
Liebkind R, Gordin D, Strbian D, Meretoja A, Thorn LM, Hägg-Holmberg S, Forsblom C, Tatlisumak T, Groop PH, Putaala J. Diabetes and intracerebral hemorrhage: baseline characteristics and mortality. Eur J Neurol 25(6): 825-832, 2018 (doi: 10.1111/ene.13603)
Lithovius R, Gordin D, Forsblom C, Saraheimo M, Harjutsalo V, Groop PH; FinnDiane Study Group. Ambulatory blood pressure and arterial stiffness in individuals with type 1 diabetes. Diabetologia 61(9): 1935-1945, 2018 (doi: 10.1007/s00125-018-4648-5)
Meng W, Shah KP, Pollack S, Toppila I, Hebert HL, McCarthy MI, Groop L, Ahlqvist E, Lyssenko V, Agardh E, Daniell M, Kaidonis G, Craig JE, Mitchell P, Liew G, Kifley A, Wang JJ, Christiansen MW, Jensen RA, Penman A, Hancock HA, Chen CJ, Correa A, Kuo JZ, Li X, Chen YI, Rotter JI, Klein R, Klein B, Wong TY, Morris AD, Doney ASF, Colhoun HM, Price AL, Burdon KP, Groop PH, Sandholm N, Grassi MA, Sobrin L, Palmer CNA; Wellcome Trust Case Control Consortium 2 (WTCCC2), Surrogate markers for Micro- and Macro-vascular hard endpoints for Innovative diabetes Tools (SUMMIT) study group. A genome-wide association study suggests new evidence for an association of the NADPH Oxidase 4 (NOX4) gene with severe diabetic retinopathy in type 2 diabetes. Acta Ophthalmol 96(7): e811-e819, 2018 (doi: 10.1111/aos.13769)
Paajanen H, Helanterä I, Kaartinen K, Nikus K, Eskola M, Groop PH, Koskinen P. Electrocardiographic changes before and after successful kidney transplantation and associations with cardiovascular and mortality outcomes. Clin Transplant 32(5): e13242, 2018 (doi: 10.1111/ctr.13242)

Palanca A, Castelblanco E, Perpiñán H, Betriu À, Soldevila B, Valdivielso JM, Bermúdez M, Duran X, Fernández E, Puig-Domingo M, Groop PH, Alonso N, Mauricio D. Prevalence and progression of subclinical atherosclerosis in patients with chronic kidney disease and diabetes. Atherosclerosis 276: 50-57, 2018 
(doi: 10.1016/j.atherosclerosis.2018.07.018)
Pongrac Barlovic D, Harjutsalo V, Gordin D, Kallio M, Forsblom C, King G, Groop PH; FinnDiane Study Group. The Association of Severe Diabetic Retinopathy with Cardiovascular Outcomes in Long-standing Type 1 Diabetes: A Longitudinal Follow-up. Diabetes Care 41(12): 2487-2494, 2018 (doi: 10.2337/dc18-0476)
Sandholm N, Groop PH. Genetic basis of diabetic kidney disease and other diabetic complications. Curr Opin Genet Dev 50: 17-24, 2018 (doi: 10.1016/j.gde.2018.01.002)
Sandholm N, Haukka JK, Toppila I, Valo E, Harjutsalo V, Forsblom C, Groop PH.
Confirmation of GLRA3 as a susceptibility locus for albuminuria in Finnish patients with type 1 diabetes. Sci Rep 8(1): 12408, 2018 (doi: 10.1038/s41598-018-29211-1)
Stutz B, Ahola AJ, Harjutsalo V, Forsblom C, Groop PH; FinnDiane Study Group.
Association between habitual coffee consumption and metabolic syndrome in type 1 diabetes. Nutr Metab Cardiovasc Dis 28(5): 470-476, 2018
(doi: 10.1016/j.numecd.2018.01.011)
van Zuydam NR, Ahlqvist E, Sandholm N, Deshmukh H, Rayner NW, Abdalla M, Ladenvall C, Ziemek D, Fauman E, Robertson NR, McKeigue PM, Valo E, Forsblom C, Harjutsalo V; Finnish Diabetic Nephropathy Study (FinnDiane), Perna A, Rurali E, Marcovecchio ML, Igo RP Jr, Salem RM, Perico N, Lajer M, Käräjämäki A, Imamura M, Kubo M, Takahashi A, Sim X, Liu J, van Dam RM, Jiang G, Tam CHT, Luk AOY, Lee HM, Lim CKP, Szeto CC, So WY, Chan JCN; Hong Kong Diabetes Registry Theme-based Research Scheme Project Group, Ang SF, Dorajoo R, Wang L, Clara TSH, McKnight AJ, Duffy S; Warren 3 and Genetics of Kidneys in Diabetes (GoKinD) Study Group, Pezzolesi MG; GENIE (GEnetics of Nephropathy an International Effort) Consortium, Marre M, Gyorgy B, Hadjadj S, Hiraki LT; Diabetes Control and Complications Trial (DCCT)/Epidemiology of Diabetes Interventions and Complications (EDIC) Research Group, Ahluwalia TS, Almgren P, Schulz CA, Orho-Melander M, Linneberg A, Christensen C, Witte DR, Grarup N, Brandslund I, Melander O, Paterson AD, Tregouet D, Maxwell AP, Lim SC, Ma RCW, Tai ES, Maeda S, Lyssenko V, Tuomi T, Krolewski AS, Rich SS, Hirschhorn JN, Florez JC, Dunger D, Pedersen O, Hansen T, Rossing P, Remuzzi G; SUrrogate markers for Micro- and Macrovascular hard endpoints for Innovative diabetes Tools (SUMMIT) Consortium, Brosnan MJ, Palmer CNA, Groop PH, Colhoun HM, Groop LC, McCarthy MI. A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects with Type 2 Diabetes. Diabetes 67(7): 1414-1427, 2018 (doi: 10.2337/db17-0914)
Wanner C, Heerspink HJL, Zinman B, Inzucchi SE, Koitka-Weber A, Mattheus M, Hantel S, Woerle HJ, Broedl UC, von Eynatten M, Groop PH; EMPA-REG OUTCOME Investigators. Empagliflozin and Kidney Function Decline in Patients with Type 2 Diabetes: A Slope Analysis from the EMPA-REG OUTCOME Trial. J Am Soc Nephrol 29(11): 2755-2769, 2018 (doi: 10.1681/ASN.2018010103)
Other publications Per-Henrik Groop
Lehto M, Groop PH. The Gut-Kidney Axis: Putative Interconnections between Gastrointestinal and Renal Disorders. Front Endocrinol (Lausanne) 9: 553, 2018 (doi: 10.3389/fendo.2018.00553) (Review)
Original articles Tiinamaija Tuomi
Acciaroli G, Sparacino G, Hakaste L, Facchinetti A, Di Nunzio GM, Palombit A, Tuomi T, Gabriel R, Aranda J, Vega S, Cobelli C. Diabetes and Prediabetes Classification Using Glycemic Variability Indices from Continuous Glucose Monitoring Data. J Diabetes Sci Technol 12(1): 105-113, 2018 (doi: 10.1177/1932296817710478)
Ahlqvist E, Prasad RB, Tuomi T, Rosengren A, Groop L. Novel diabetes subgroups - Authors' reply. (Comment) Lancet Diabetes Endocrinol 6(6): 440-441, 2018 
(doi: 10.1016/S2213-8587(18)30139-6)
Ahlqvist E, Storm P, Käräjämäki A, Martinell M, Dorkhan M, Carlsson A, Vikman P, Prasad RB, Aly DM, Almgren P, Wessman Y, Shaat N, Spégel P, Mulder H, Lindholm E, Melander O, Hansson O, Malmqvist U, Lernmark Å, Lahti K, Forsén T, Tuomi T, Rosengren AH, Groop L. Novel subgroups of adult-onset diabetes and their association with outcomes: a data-driven cluster analysis of six variables. Lancet Diabetes Endocrinol 6(5): 361-369, 2018 (doi: 10.1016/S2213-8587(18)30051-2)
Bowman P, Sulen Å, Barbetti F, Beltrand J, Svalastoga P, Codner E, Tessmann EH, Juliusson PB, Skrivarhaug T, Pearson ER, Flanagan SE, Babiker T, Thomas NJ, Shepherd MH, Ellard S, Klimes I, Szopa M, Polak M, Iafusco D, Hattersley AT, Njølstad PR; Neonatal Diabetes International Collaborative Group. Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study. Lancet Diabetes Endocrinol 6(8): 637-646, 2018 (doi: 10.1016/S2213-8587(18)30106-2)
Cousminer DL, Ahlqvist E, Mishra R, Andersen MK, Chesi A, Hawa MI, Davis A, Hodge KM, Bradfield JP, Zhou K, Guy VC, Åkerlund M, Wod M, Fritsche LG, Vestergaard H, Snyder J, Højlund K, Linneberg A, Käräjämäki A, Brandslund I, Kim CE, Witte D, Sørgjerd EP, Brillon DJ, Pedersen O, Beck-Nielsen H, Grarup N, Pratley RE, Rickels MR, Vella A, Ovalle F, Melander O, Harris RI, Varvel S, Grill VER; Bone Mineral Density in Childhood Study, Hakonarson H, Froguel P, Lonsdale JT, Mauricio D, Schloot NC, Khunti K, Greenbaum CJ, Åsvold BO, Yderstræde KB, Pearson ER, Schwartz S, Voight BF, Hansen T, Tuomi T, Boehm BO, Groop L, Leslie RD, Grant SFA. First Genome-Wide Association Study of Latent Autoimmune Diabetes in Adults Reveals Novel Insights Linking Immune and Metabolic Diabetes. Diabetes Care 41(11): 2396-2403, 2018 (doi: 10.2337/dc18-1032)
Di Camillo B, Hakaste L, Sambo F, Gabriel R, Kravic J, Isomaa B, Tuomilehto J, Alonso M, Longato E, Facchinetti A, Groop LC, Cobelli C, Tuomi T. HAPT2D: high accuracy of prediction of T2D with a model combining basic and advanced data depending on availability. Eur J Endocrinol 178(4): 331-341, 2018 (doi: 10.1530/EJE-17-0921)
Flannick J, Fuchsberger C, Mahajan A, Teslovich TM, Agarwala V, Gaulton KJ, Caulkins L, Koesterer R, Ma C, Moutsianas L, McCarthy DJ, Rivas MA, Perry JRB, Sim X, Blackwell TW, Robertson NR, Rayner NW, Cingolani P, Locke AE, Tajes JF, Highland HM, Dupuis J, Chines PS, Lindgren CM, Hartl C, Jackson AU, Chen H, Huyghe JR, van de Bunt M, Pearson RD, Kumar A, Müller-Nurasyid M, Grarup N, Stringham HM, Gamazon ER, Lee J, Chen Y, Scott RA, Below JE, Chen P, Huang J, Go MJ, Stitzel ML, Pasko D, Parker SCJ, Varga TV, Green T, Beer NL, Day-Williams AG, Ferreira T, Fingerlin T, Horikoshi M, Hu C, Huh I, Ikram MK, Kim BJ, Kim Y, Kim YJ, Kwon MS, Lee J, Lee S, Lin KH, Maxwell TJ, Nagai Y, Wang X, Welch RP, Yoon J, Zhang W, Barzilai N, Voight BF, Han BG, Jenkinson CP, Kuulasmaa T, Kuusisto J, Manning A, Ng MCY, Palmer ND, Balkau B, Stančáková A, Abboud HE, Boeing H, Giedraitis V, Prabhakaran D, Gottesman O, Scott J, Carey J, Kwan P, Grant G, Smith JD, Neale BM, Purcell S, Butterworth AS, Howson JMM, Lee HM, Lu Y, Kwak SH, Zhao W, Danesh J, Lam VKL, Park KS, Saleheen D, So WY, Tam CHT, Afzal U, Aguilar D, Arya R, Aung T, Chan E, Navarro C, Cheng CY, Palli D, Correa A, Curran JE, Rybin D, Farook VS, Fowler SP, Freedman BI, Griswold M, Hale DE, Hicks PJ, Khor CC, Kumar S, Lehne B, Thuillier D, Lim WY, Liu J, Loh M, Musani SK, Puppala S, Scott WR, Yengo L, Tan ST, Taylor HA, Thameem F, Wilson G, Wong TY, Njølstad PR, Levy JC, Mangino M, Bonnycastle LL, Schwarzmayr T, Fadista J, Surdulescu GL, Herder C, Groves CJ, Wieland T, Bork-Jensen J, Brandslund I, Christensen C, Koistinen HA, Doney ASF, Kinnunen L, Esko T, Farmer AJ, Hakaste L, Hodgkiss D, Kravic J, Lyssenko V, Hollensted M, Jørgensen ME, Jørgensen T, Ladenvall C, Justesen JM, Käräjämäki A, Kriebel J, Rathmann W, Lannfelt L, Lauritzen T, Narisu N, Linneberg A, Melander O, Milani L, Neville M, Orho-Melander M, Qi L, Qi Q, Roden M, Rolandsson O, Swift A, Rosengren AH, Stirrups K, Wood AR, Mihailov E, Blancher C, Carneiro MO, Maguire J, Poplin R, Shakir K, Fennell T, DePristo M, de Angelis MH, Deloukas P, Gjesing AP, Jun G, Nilsson P, Murphy J, Onofrio R, Thorand B, Hansen T, Meisinger C, Hu FB, Isomaa B, Karpe F, Liang L, Peters A, Huth C, O'Rahilly SP, Palmer CNA, Pedersen O, Rauramaa R, Tuomilehto J, Salomaa V, Watanabe RM, Syvänen AC, Bergman RN, Bharadwaj D, Bottinger EP, Cho YS, Chandak GR, Chan JCN, Chia KS, Daly MJ, Ebrahim SB, Langenberg C, Elliott P, Jablonski KA, Lehman DM, Jia W, Ma RCW, Pollin TI, Sandhu M, Tandon N, Froguel P, Barroso I, Teo YY, Zeggini E, Loos RJF, Small KS, Ried JS, DeFronzo RA, Grallert H, Glaser B, Metspalu A, Wareham NJ, Walker M, Banks E, Gieger C, Ingelsson E, Im HK, Illig T, Franks PW, Buck G, Trakalo J, Buck D, Prokopenko I, Mägi R, Lind L, Farjoun Y, Owen KR, Gloyn AL, Strauch K, Tuomi T, Kooner JS, Lee JY, Park T, Donnelly P, Morris AD, Hattersley AT, Bowden DW, Collins FS, Atzmon G, Chambers JC, Spector TD, Laakso M, Strom TM, Bell GI, Blangero J, Duggirala R, Tai ES, McVean G, Hanis CL, Wilson JG, Seielstad M, Frayling TM, Meigs JB, Cox NJ, Sladek R, Lander ES, Gabriel S, Mohlke KL, Meitinger T, Groop L, Abecasis G, Scott LJ, Morris AP, Kang HM, Altshuler D, Burtt NP, Florez JC, Boehnke M, McCarthy MI. Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Sci Data 5: 180002, 2018 (doi: 10.1038/sdata.2018.2)
Haljas K, Lahti J, Tuomi T, Isomaa B, Eriksson JG, Groop L, Räikkönen K. Melatonin receptor 1B gene rs10830963 polymorphism, depressive symptoms and glycaemic traits. Ann Med 50(8): 704-712, 2018
(doi: 10.1080/07853890.2018.1509118)
Hjort R, Ahlqvist E, Carlsson PO, Grill V, Groop L, Martinell M, Rasouli B, Rosengren A, Tuomi T, Åsvold BO, Carlsson S. Overweight, obesity and the risk of LADA: results from a Swedish case-control study and the Norwegian HUNT Study. Diabetologia 61(6): 1333-1343, 2018 (doi: 10.1007/s00125-018-4596-0)
Longato E, Acciaroli G, Facchinetti A, Hakaste L, Tuomi T, Maran A, Sparacino G. Glycaemic variability-based classification of impaired glucose tolerance vs. type 2 diabetes using continuous glucose monitoring data. Comput Biol Med 96: 141-146, 2018 (doi: 10.1016/j.compbiomed.2018.03.007)
Mahajan A, Wessel J, Willems SM, Zhao W, Robertson NR, Chu AY, Gan W, Kitajima H, Taliun D, Rayner NW, Guo X, Lu Y, Li M, Jensen RA, Hu Y, Huo S, Lohman KK, Zhang W, Cook JP, Prins BP, Flannick J, Grarup N, Trubetskoy VV, Kravic J, Kim YJ, Rybin DV, Yaghootkar H, Müller-Nurasyid M, Meidtner K, Li-Gao R, Varga TV, Marten J, Li J, Smith AV, An P, Ligthart S, Gustafsson S, Malerba G, Demirkan A, Tajes JF, Steinthorsdottir V, Wuttke M, Lecoeur C, Preuss M, Bielak LF, Graff M, Highland HM, Justice AE, Liu DJ, Marouli E, Peloso GM, Warren HR; ExomeBP Consortium; MAGIC Consortium; GIANT Consortium, Afaq S, Afzal S, Ahlqvist E, Almgren P, Amin N, Bang LB, Bertoni AG, Bombieri C, Bork-Jensen J, Brandslund I, Brody JA, Burtt NP, Canouil M, Chen YI, Cho YS, Christensen C, Eastwood SV, Eckardt KU, Fischer K, Gambaro G, Giedraitis V, Grove ML, de Haan HG, Hackinger S, Hai Y, Han S, Tybjærg-Hansen A, Hivert MF, Isomaa B, Jäger S, Jørgensen ME, Jørgensen T, Käräjämäki A, Kim BJ, Kim SS, Koistinen HA, Kovacs P, Kriebel J, Kronenberg F, Läll K, Lange LA, Lee JJ, Lehne B, Li H, Lin KH, Linneberg A, Liu CT, Liu J, Loh M, Mägi R, Mamakou V, McKean-Cowdin R, Nadkarni G, Neville M, Nielsen SF, Ntalla I, Peyser PA, Rathmann W, Rice K, Rich SS, Rode L, Rolandsson O, Schönherr S, Selvin E, Small KS, Stančáková A, Surendran P, Taylor KD, Teslovich TM, Thorand B, Thorleifsson G, Tin A, Tönjes A, Varbo A, Witte DR, Wood AR, Yajnik P, Yao J, Yengo L, Young R, Amouyel P, Boeing H, Boerwinkle E, Bottinger EP, Chowdhury R, Collins FS, Dedoussis G, Dehghan A, Deloukas P, Ferrario MM, Ferrières J, Florez JC, Frossard P, Gudnason V, Harris TB, Heckbert SR, Howson JMM, Ingelsson M, Kathiresan S, Kee F, Kuusisto J, Langenberg C, Launer LJ, Lindgren CM, Männistö S, Meitinger T, Melander O, Mohlke KL, Moitry M, Morris AD, Murray AD, de Mutsert R, Orho-Melander M, Owen KR, Perola M, Peters A, Province MA, Rasheed A, Ridker PM, Rivadineira F, Rosendaal FR, Rosengren AH, Salomaa V, Sheu WH, Sladek R, Smith BH, Strauch K, Uitterlinden AG, Varma R, Willer CJ, Blüher M, Butterworth AS, Chambers JC, Chasman DI, Danesh J, van Duijn C, Dupuis J, Franco OH, Franks PW, Froguel P, Grallert H, Groop L, Han BG, Hansen T, Hattersley AT, Hayward C, Ingelsson E, Kardia SLR, Karpe F, Kooner JS, Köttgen A, Kuulasmaa K, Laakso M, Lin X, Lind L, Liu Y, Loos RJF, Marchini J, Metspalu A, Mook-Kanamori D, Nordestgaard BG, Palmer CNA, Pankow JS, Pedersen O, Psaty BM, Rauramaa R, Sattar N, Schulze MB, Soranzo N, Spector TD, Stefansson K, Stumvoll M, Thorsteinsdottir U, Tuomi T, Tuomilehto J, Wareham NJ, Wilson JG, Zeggini E, Scott RA, Barroso I, Frayling TM, Goodarzi MO, Meigs JB, Boehnke M, Saleheen D, Morris AP, Rotter JI, McCarthy MI. Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes. Nat Genet 50(4): 559-571, 2018 (doi: 10.1038/s41588-018-0084-1)
Rasouli B, Ahlqvist E, Alfredsson L, Andersson T, Carlsson PO, Groop L, Löfvenborg JE, Martinell M, Rosengren A, Tuomi T, Wolk A, Carlsson S. Coffee consumption, genetic susceptibility and risk of latent autoimmune diabetes in adults: A population-based case-control study. Diabetes Metab 44(4): 354-360, 2018 (doi: 10.1016/j.diabet.2018.05.002)
Strausz S, Havulinna AS, Tuomi T, Bachour A, Groop L, Mäkitie A, Koskinen S, Salomaa V, Palotie A, Ripatti S, Palotie T. Obstructive sleep apnoea and the risk for coronary heart disease and type 2 diabetes: a longitudinal population-based study in Finland. BMJ Open 8(10): e022752, 2018 (doi: 10.1136/bmjopen-2018-022752)
van Zuydam NR, Ahlqvist E, Sandholm N, Deshmukh H, Rayner NW, Abdalla M, Ladenvall C, Ziemek D, Fauman E, Robertson NR, McKeigue PM, Valo E, Forsblom C, Harjutsalo V; Finnish Diabetic Nephropathy Study (FinnDiane), Perna A, Rurali E, Marcovecchio ML, Igo RP Jr, Salem RM, Perico N, Lajer M, Käräjämäki A, Imamura M, Kubo M, Takahashi A, Sim X, Liu J, van Dam RM, Jiang G, Tam CHT, Luk AOY, Lee HM, Lim CKP, Szeto CC, So WY, Chan JCN; Hong Kong Diabetes Registry Theme-based Research Scheme Project Group, Ang SF, Dorajoo R, Wang L, Clara TSH, McKnight AJ, Duffy S; Warren 3 and Genetics of Kidneys in Diabetes (GoKinD) Study Group, Pezzolesi MG; GENIE (GEnetics of Nephropathy an International Effort) Consortium, Marre M, Gyorgy B, Hadjadj S, Hiraki LT; Diabetes Control and Complications Trial (DCCT)/Epidemiology of Diabetes Interventions and Complications (EDIC) Research Group, Ahluwalia TS, Almgren P, Schulz CA, Orho-Melander M, Linneberg A, Christensen C, Witte DR, Grarup N, Brandslund I, Melander O, Paterson AD, Tregouet D, Maxwell AP, Lim SC, Ma RCW, Tai ES, Maeda S, Lyssenko V, Tuomi T, Krolewski AS, Rich SS, Hirschhorn JN, Florez JC, Dunger D, Pedersen O, Hansen T, Rossing P, Remuzzi G; SUrrogate markers for Micro- and Macrovascular hard endpoints for Innovative diabetes Tools (SUMMIT) Consortium, Brosnan MJ, Palmer CNA, Groop PH, Colhoun HM, Groop LC, McCarthy MI. A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects with Type 2 Diabetes. Diabetes 67(7): 1414-1427, 2018 (doi: 10.2337/db17-0914).
Original articles Mikael Knip
Grip T, Dyrlund TS, Ahonen L, Domellöf M, Hernell O, Hyötyläinen T, Knip M, Lönnerdal B, Orešič M, Timby N. Serum, plasma and erythrocyte membrane lipidomes in infants fed formula supplemented with bovine milk fat globule membranes. Pediatr Res 84(5): 726-732, 2018 (doi: 10.1038/s41390-018-0130-9)
Hakola L, Takkinen HM, Niinistö S, Ahonen S, Nevalainen J, Veijola R, Ilonen J, Toppari J, Knip M, Virtanen SM. Infant Feeding in Relation to the Risk of Advanced Islet Autoimmunity and Type 1 Diabetes in Children With Increased Genetic Susceptibility: A Cohort Study. Am J Epidemiol 187(1): 34-44, 2018 (doi: 10.1093/aje/kwx191)
Hekkala AM, Ilonen J, Toppari J, Knip M, Veijola R. Ketoacidosis at diagnosis of type 1 diabetes: Effect of prospective studies with newborn genetic screening and follow up of risk children. Pediatr Diabetes 19(2): 314-319, 2018 (doi: 10.1111/pedi.12541)
Hyöty H, Leon F, Knip M. Developing a vaccine for type 1 diabetes by targeting coxsackievirus B. Expert Rev Vaccines 17(12): 1071-1083, 2018 (doi: 10.1080/14760584.2018.1548281)
Ihantola EL, Viisanen T, Gazali AM, Näntö-Salonen K, Juutilainen A, Moilanen L, Rintamäki R, Pihlajamäki J, Veijola R, Toppari J, Knip M, Ilonen J, Kinnunen T.
Effector T Cell Resistance to Suppression and STAT3 Signaling during the Development of Human Type 1 Diabetes. J Immunol 201(4): 1144-1153, 2018 
(doi: 10.4049/jimmunol.1701199)
Ilonen J, Lempainen J, Hammais A, Laine AP, Härkönen T, Toppari J, Veijola R, Knip M; Finnish Pediatric Diabetes Register. Primary islet autoantibody at initial seroconversion and autoantibodies at diagnosis of type 1 diabetes as markers of disease heterogeneity. Pediatr Diabetes 19(2): 284-292, 2018 (doi: 10.1111/pedi.12545)
Insel R, Knip M. Prospects for primary prevention of type 1 diabetes by restoring a disappearing microbe. Pediatr Diabetes 19(8): 1400-1406, 2018 (doi: 10.1111/pedi.12756)
Kondrashova A, Nurminen N, Lehtonen J, Hyöty M, Toppari J, Ilonen J, Veijola R, Knip M, Hyöty H. Exocrine pancreas function decreases during the progression of the beta-cell damaging process in young prediabetic children. Pediatr Diabetes 19(3): 398-402, 2018 (doi: 10.1111/pedi.12592)
Korhonen L, Seiskari T, Lehtonen J, Puustinen L, Surcel HM, Haapala AM, Niemelä O, Virtanen SM, Honkanen H, Karjalainen M, Ilonen J, Veijola R, Knip M, Lönnrot M, Hyöty H. Enterovirus infection during pregnancy is inversely associated with atopic disease in the offspring. Clin Exp Allergy 48(12): 1698-1704, 2018 (doi: 10.1111/cea.13280)
Koskinen MK, Lempainen J, Löyttyniemi E, Helminen O, Hekkala A, Härkönen T, Kiviniemi M, Simell O, Knip M, Ilonen J, Toppari J, Veijola R. Class II HLA Genotype Association With First-Phase Insulin Response Is Explained by Islet Autoantibodies. J Clin Endocrinol Metab 103(8): 2870-2878, 2018 (doi: 10.1210/jc.2017-02040)
Lamichhane S, Ahonen L, Dyrlund TS, Kemppainen E, Siljander H, Hyöty H, Ilonen J, Toppari J, Veijola R, Hyötyläinen T, Knip M, Oresic M. Dynamics of Plasma Lipidome in Progression to Islet Autoimmunity and Type 1 Diabetes - Type 1 Diabetes Prediction and Prevention Study (DIPP). Sci Rep 8(1): 10635, 2018 (doi: 10.1038/s41598-018-28907-8)
Lamichhane S, Ahonen L, Dyrlund TS, Siljander H, Hyöty H, Ilonen J, Toppari J, Veijola R, Hyötyläinen T, Knip M, Orešič M. A longitudinal plasma lipidomics dataset from children who developed islet autoimmunity and type 1 diabetes. Sci Data 5: 180250, 2018 (doi: 10.1038/sdata.2018.250)
Lietzen N, An LTT, Jaakkola MK, Kallionpää H, Oikarinen S, Mykkänen J, Knip M, Veijola R, Ilonen J, Toppari J, Hyöty H, Lahesmaa R, Elo LL. Enterovirus-associated changes in blood transcriptomic profiles of children with genetic susceptibility to type 1 diabetes. 61 Diabetologia (2): 381-388, 2018 (doi: 10.1007/s00125-017-4460-7)
Lietzén N, Cheng L, Moulder R, Siljander H, Laajala E, Härkönen T, Peet A, Vehtari A, Tillmann V, Knip M, Lähdesmäki H, Lahesmaa R. Characterization and non-parametric modeling of the developing serum proteome during infancy and early childhood. Sci Rep 8(1): 5883, 2018 (doi: 10.1038/s41598-018-24019-5)
Mustonen N, Siljander H, Peet A, Tillmann V, Härkönen T, Ilonen J, Hyöty H, Knip M; DIABIMMUNE Study Group. Early childhood infections precede development of beta-cell autoimmunity and type 1 diabetes in children with HLA-conferred disease ris Pediatr Diabetes 19(2): 293-299, 2018 (doi: 10.1111/pedi.12547)
Parkkola A, Härkönen T, Ryhänen SJ, Uibo R, Ilonen J, Knip M; Finnish Pediatric Diabetes Register. Transglutaminase antibodies and celiac disease in children with type 1 diabetes and in their family members. Pediatr Diabetes 19(2): 305-313, 2018 
(doi: 10.1111/pedi.12563)
Prasad M, Takkinen HM, Uusitalo L, Tapanainen H, Ovaskainen ML, Alfthan G, Erlund I, Ahonen S, Åkerlund M, Toppari J, Ilonen J, Knip M, Veijola R, Virtanen SM.
Carotenoid Intake and Serum Concentration in Young Finnish Children and Their Relation with Fruit and Vegetable Consumption. Nutrients 10(10) pii: E1533, 2018 (doi: 10.3390/nu10101533)
Savilahti E, Härkönen T, Savilahti EM, Kukkonen K, Kuitunen M, Knip M.
Probiotic intervention in infancy is not associated with development of beta cell autoimmunity and type 1 diabetes. Diabetologia 61(12): 2668-2670, 2018 (doi: 10.1007/s00125-018-4738-4)
Sioofy-Khojine AB, Lehtonen J, Nurminen N, Laitinen OH, Oikarinen S, Huhtala H, Pakkanen O, Ruokoranta T, Hankaniemi MM, Toppari J, Vähä-Mäkilä M, Ilonen J, Veijola R, Knip M, Hyöty H. Coxsackievirus B1 infections are associated with the initiation of insulin-driven autoimmunity that progresses to type 1 diabetes. Diabetologia 61(5): 1193-1202, 2018 (doi: 10.1007/s00125-018-4561-y)
Turtinen M, Härkönen T, Parkkola A, Ilonen J, Knip M; Finnish Pediatric Diabetes Register. Sex as a determinant of type 1 diabetes at diagnosis. Pediatr Diabetes 19(7): 1221-1228, 2018 (doi: 10.1111/pedi.12697)
Viskari H, Oikarinen S, Hoppu S, Vuorinen T, Huhtala H, Toppari J, Veijola R, Ilonen J, Knip M, Hyöty H. Live attenuated enterovirus vaccine (OPV) is not associated with islet autoimmunity in children with genetic susceptibility to type 1 diabetes: prospective cohort study. Diabetologia 61(1): 03-209, 2018 (doi: 10.1007/s00125-017-4410-4)
Yassour M, Jason E, Hogstrom LJ, Arthur TD, Tripathi S, Siljander H, Selvenius J, Oikarinen S, Hyöty H, Virtanen SM, Ilonen J, Ferretti P, Pasolli E, Tett A, Asnicar F, Segata N, Vlamakis H, Lander ES, Huttenhower C, Knip M, Xavier RJ. Strain-Level Analysis of Mother-to-Child Bacterial Transmission during the First Few Months of Life. Cell Host Microbe 24(1): 146-154.e4, 2018 (doi: 10.1016/j.chom.2018.06.007)