Genetics Publications 2024

Altered oxidant and antioxidant levels are associated with vascular stiffness and diabetic kidney disease in type 1 diabetes after exposure to acute and chronic hyperglycemia.
Adeshara K, Di Marco E, Bordino M, Gordin D, Bernardi L, Cooper ME, Groop PH; FinnDiane Study Group. Cardiovascular Diabetology. 

Protein glycation products associate with progression of kidney disease and incident cardiovascular events in individuals with type 1 diabetes.    
Adeshara K, Gordin D, Antikainen AA, Harjutsalo V, Sandholm N, Lehto MJ, Groop PH; FinnDiane Study Group. Cardiovascular Diabetology.    

Precision prognostics for cardiovascular disease in Type 2 diabetes: a systematic review and meta-analysis.    
Ahmad A, Lim LL, Morieri ML, Tam CH, Cheng F, Chikowore T, Dudenhöffer-Pfeifer M, Fitipaldi H, Huang C, Kanbour S, Sarkar S, Koivula RW, Motala AA, Tye SC, Yu G, Zhang Y, Provenzano M, Sherifali D, de Souza RJ, Tobias DKADA/EASD PMDI (including Tuomi T.); Gomez MF, Ma RCW, Mathioudakis N. Communications Medicine.    

A clinical and molecular characterization of a Pakistani family with multicentric osteolysis, nodulosis and arthropathy (MONA) syndrome.
Ahmad S, Muurinen M, Loid P, Ali MZ, Muzammal M, Fatima S, Khan J, Khan MA, Mäkitie O. Bone Reports.    

The use of dietary supplements, and the association between supplemental vitamin D and glycaemic control in adult individuals with type 1 diabetes.    
Ahola AJ, Harjutsalo V, Groop PH; on behalf of the FinnDiane Study Group. Diabetic Medicine.    

Modifiable self-management practices impact nocturnal and morning glycaemia in type 1 diabetes.
Ahola AJ, Parente EB, Harjutsalo V, Groop PH. Primary Care Diabetes.

Clustering of risk behaviours and associations between risk behaviours and cardio-metabolic risk factors in adult individuals with type 1 diabetes.
Ahola AJ, Tikkanen-Dolenc H, Harjutsalo V, Groop PH; FinnDiane Study Group. Diabetes Research and Clinical Practice.    

Novel loci and biomedical consequences of iron homoeostasis variation.    
Allara E, Bell S, Smith R, Keene SJ, Gill D, Gaziano L, Morselli Gysi D, Wang F, Tragante V, Mason A, Karthikeyan S, Lumbers RT, Bonglack E, Ouwehand W, Roberts DJ, Dowsett J, Ostrowski SR, Larsen MH, Ullum H, Pedersen OB, Brunak S, Banasik K, Erikstrup C; DBDS Genomic Consortium; Mitchell J, Fuchsberger C, Pattaro C, Pramstaller PP, Girelli D, Arvas M, Toivonen J, Molnos S, Peters A, Polasek O, Rudan I, Hayward C, McDonnell C, Pirastu N, Wilson JF, van den Hurk K, Quee F, Ferrucci L, Bandinelli S, Tanaka T, Girotto G, Concas MP, Pecori A, Verweij N, van der Harst P, van de Vegte YJ, Kiemeney LA, Sweep FC, Galesloot TE, Sulem P, Gudbjartsson D, Ferkingstad E; FinnGen Consortium (including Tuomi T, Turunen J); Djousse L, Cho K, Inouye M, Burgess S, Benyamin B, Oexle K, Swinkels D, Stefansson K, Magnusson M, Ganna A, Gaziano M, Ivey K, Danesh J, Pereira A, Wood AM, Butterworth AS, Di Angelantonio E. Communications Biology.

A new Finnish flavor of feline coat coloration, “salmiak,” is associated with a 95-kb deletion downstream of the KIT gene.
Anderson H, Salonen M, Toivola S, Blades M, LA. Forman O, Hytönen MK, Lohi H. Animal Genetics.    

Whole-genome sequencing identifies variants in ANK1, LRRN1, HAS1, and other genes and regulatory regions for stroke in type 1 diabetes.
Antikainen AA, Haukka JK, Kumar A, Syreeni A, Hägg-Holmberg S, Ylinen A, Kilpeläinen E, Kytölä A, Palotie A, Putaala J, Thorn LM, Harjutsalo V, Groop P-H, Sandholm N. Scientific Reports.    

Urinary metabolomics provide insights into coronary artery disease in individuals with type 1 diabetes.
Antikainen AA, Mutter S, Harjutsalo V, Thorn LM, Groop P-H, Sandholm N. Cardiovascular Diabetology.    

Altered oral microbiome, but normal human papilloma virus prevalence in cartilage-hair hypoplasia patients.
Arponen H, Vakkilainen S, Tomnikov N, Kallonen T, Silling S, Mäkitie O, Rautava J. Orphanet Journal of Rare Diseases.    

Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa.
Backlund MP, Repo P, Kangas H, Donner K, Sankila EM, Krootila J, Paavo M, Wartiovaara K, Kivelä TT, Turunen JA. Human Mutation.    

International Diabetes Federation Position Statement on the 1-hour post-load plasma glucose for the diagnosis of intermediate hyperglycaemia and type 2 diabetes. 
Bergman M, Manco M, Satman I, Chan J, Inês Schmidt M, Sesti G, Vanessa Fiorentino T, Abdul-Ghani M, Jagannathan R, Kumar Thyparambil Aravindakshan P, Gabriel R, Mohan V, Buysschaert M, Bennakhi A, Pascal Kengne A, Dorcely B, Nilsson PM, Tuomi T, Battelino T, Hussain A, Ceriello A, Tuomilehto J. Diabetes Research and Clinical Practice.    

Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network.
Bortolani S, Savarese M, Vattemi G, Bonanno S, Falzone YM, Pugliese A, Primiano G, Sancricca C, Lopergolo D, Greco G, Gemelli C, Ravaglia S, Bencivenga RP, Velardo D, Magri F, Valentino ML, Cheli M, Torchia E, Lucchini M, Petrucci A, Ricci G, Garibaldi M, Astrea G, Rubegni A, Angelini CI, Ariatti A, Santorelli FM, Ruggieri A, Antonini G, Siciliano G, Filosto M, Mirabella M, Liguori R, Comi GP, Ruggiero L, Grandis M, Massa R, Malandrini A, Servidei S, Mongini TE, Rodolico C, Toscano A, Previtali SC, Tonin P, Diaz-Manera J, Monforte M, Ricci E, Maggi L, Tasca G. Neurology.

A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma.
Brandt E, Harjama L, Elomaa O, Saarela J, Donner K, Lappalainen K, Kivirikko S, Ranki A, Kere J, Kettunen K, Hannula-Jouppi K. Journal of the European Academy of Dermatology and Venereology. 

A genomic mutational constraint map using variation in 76,156 human genomes.
Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, Alföldi J, Watts NA, Vittal C, Gauthier LD, Poterba T, Wilson MW, Tarasova Y, Phu W, Grant R, Yohannes MT, Koenig Z, Farjoun Y, Banks E, Donnelly S, Gabriel S, Gupta N, Ferriera S, Tolonen C, Novod S, Bergelson L, Roazen D, Ruano-Rubio V, Covarrubias M, Llanwarne C, Petrillo N, Wade G, Jeandet T, Munshi R, Tibbetts K; Genome Aggregation Database Consortium (including Tuomi T); O'Donnell-Luria A, Solomonson M, Seed C, Martin AR, Talkowski ME, Rehm HL, Daly MJ, Tiao G, Neale BM, MacArthur DG, Karczewski KJ. Nature.

Integrated analysis of blood DNA methylation, genetic variants, circulating proteins, microRNAs, and kidney failure in type 1 diabetes.
Chen Z, Satake E, Pezzolesi MG, Dom ZI, Stucki D, Kobayashi H, Syreeni A, Johnson AT, Wu X, Dahlström EH, King JB, Groop P-H , Rich SS, Sandholm N, Krolewski AS, Natarajan R. Science Translational Medicine.    

PCYT2 deficiency in Saarlooswolfdogs with progressive retinal, central, and peripheral neurodegeneration.
Christen M, Oevermann A, Rupp S, Vaz FM, Wever EJM, Jagannathan V, Kehl A, Hytönen MK, Lohi H, Leeb T. Molecular Genetics and Metabolism.

Cerebral small vessel disease is associated with smaller brain volumes in adults with type 1 diabetes.
Claesson T, Putaala J, Shams S, Salli E, Gordin D, Forsblom C, Tatlisumak T, Groop P-H, Martola J, Thorn LM. Journal of Diabetes Research.    

A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family: The Exception That Proves the Rule.
Claeys KG, Savarese M, Jonson PH, Goosens V, Topf A, Vihola A, Straub V, Udd B. Neurology: Genetics.    

Primary cilia promote the differentiation of human neurons through the WNT signaling pathway.
Coschiera A, Yoshihara M, Lauter G, Ezer S, Pucci M, Li H, Kavšek A, Riedel CG, Kere J, Swoboda P. BMC Biology.    

Differential somatic coding variant landscapes between laser microdissected luminal epithelial cells from canine mammary invasive ductal solid carcinoma and comedocarcinoma.
Deckwirth V, Hundi S, Hytönen MK, Hannula S, Ellonen P, Björkenheim P, Sukura A, Lohi H. BMC Cancer.    

Inferring disease course from differential exon usage in the wide titinopathy spectrum.
Di Feo MF, Oghabian A, Nippala E, Gautel M, Jungbluth H, Forzano F, Malfatti E, Castiglioni C, Krey I, Gomez Andres D, Brady AF, Iascone M, Cereda A, Pezzani L, Natera De Benito D, Nascimiento Osorio A, Estévez Arias B, Kurbatov SA, Attie-Bitach T, Nampoothiri S, Ryan E, Morrow M, Gorokhova S, Chabrol B, Sinisalo J, Tolppanen H, Tolva J, Munell F, Camacho Soriano J, Sanchez Duran MA, Johari M, Tajsharghi H, Hackman P, Udd B, Savarese M. Annals of Clinical and Translational Neurology.

Co-occurrence of two rare diseases: a child with phenylketonuria and WNT1 osteoporosis.
Doulgeraki A, Wang F, Skouma A, Petropoulou E, Tournis S, Costantini A, Mäkitie O. Hormone Research in Paediatrics.    

Exposure to antibiotics and risk of latent autoimmune diabetes in adults and type 2 diabetes: results from a Swedish case-control study (ESTRID) and the Norwegian HUNT study.
Edstorp J, Rossides M, Ahlqvist E, Alfredsson L, Askling J, Di Giuseppe D, Grill V, Sorgjerd EP, Tuomi T, Åsvold BO, Carlsson S. Diabetologia.        

Does a prior diagnosis of infectious disease confer an increased risk of latent autoimmune diabetes in adults?
Edstorp J, Rossides M, Ahlqvist E, Rasouli B, Tuomi T, Carlsson S. Diabetes/Metabolism Research And Reviews.    

Manually pressurized droplet digital PCR chip for rapid SARS-CoV-2 diagnostics.
Elomaa P, Ojalehto T, Kumar D, Jokinen V, Saavalainen P. Biomicrofluidics.

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across epilepsy subtypes. 
Epi25 Collaborative. Nature Neuroscience.    

Stroke incidence increases with diabetic retinopathy severity and macular edema in type 1 diabetes.
Eriksson M I, Hietala K, Summanen P, Harjutsalo V, Putaala J, Ylinen A, Hägg-Holmberg S, Groop P-H, Thorn L M. Cardiovascular Diabetology.    

Islet autoantibodies as precision diagnostic tools to characterize heterogeneity in type 1 diabetes: a systematic review.
Felton JL, Redondo MJ, Oram RA, Speake C, Long SA, Onengut-Gumuscu S, Rich SS, Monaco GSF, Harris-Kawano A, Perez D, Saeed Z, Hoag B, Jain R, Evans-Molina C, DiMeglio LA, Ismail HM, Dabelea D, Johnson RK, Urazbayeva M, Wentworth JM, Griffin KJ, Sims EK; ADA/EASD PMDI (including Tuomi T).     Communications Medicine.

Incidence and risk factors for cancer in people with type 1 diabetes, stratified by stages of diabetic kidney disease: a nationwide Finnish cohort study.
Feodoroff M, Harjutsalo V, Mäkimattila S, Groop P-H, on behalf of the FinnDiane Study Group. The Lancet Regional Health Europe.    

Interaction network of human early embryonic transcription factors.
Gawriyski L, Tan Z, Liu X, Chowdhury I, Malaymar Pinar D, Zhang Q, Weltner J, Jouhilahti EM, Wei GH, Kere J, Varjosalo M. EMBO Reports.    

Fasting triglyceride concentrations are associated with markers of lipid metabolism and glucose homeostasis in healthy, non-obese dogs in lean and overweight condition.
Gomez-Fernandez-Blanco C, Peeters D, Farnir F, Höglund K, Gouni V, Wiberg M, Lundgren Willesen J, Hanås S, McEntee K, Tiret L, Häggström J, Lohi H, Chetboul V, Fredholm M, Seppälä E, Lequarré A-S, German AJ and Merveille A-C. Frontiers in Veterinary Science.    

Inferring compound heterozygosity from large-scale exome sequencing data.
Guo MH, Francioli LC, Stenton SL, Goodrich JK, Watts NA, Singer-Berk M, Groopman E, Darnowsky PW, Solomonson M, Baxter S; gnomAD Project Consortium (including Tuomi T); Tiao G, Neale BM, Hirschhorn JN, Rehm HL, Daly MJ, O'Donnell-Luria A, Karczewski KJ, MacArthur DG, Samocha KE. Nature Genetics.    

Fetal cord plasma herpesviruses and preeclampsia: an observational cohort study.
Häkkinen I, Yazgeldi Gunaydin G, Pyöriä L, Kojima S, Parrish N, Perdomo MF, Wedenoja J, Hedman K, Heinonen S, Kajantie E, Laivuori H, Kere J, Katayama S, Wedenoja S. Scientific Reports.    

Germline mutations in a G protein identify signaling cross-talk in T cells.
Ham H, Jing H, Lamborn IT, Kober MM, Koval A, Berchiche YA, Anderson DE, Druey KM, Mandl JN, Isidor B, Ferreira CR, Freeman AF, Ganesan S, Karsak M, Mustillo PJ, Teo J, Zolkipli-Cunningham Z, Chatron N, Lecoquierre F, Oler AJ, Schmid JP, Kuhns DB, Xu X, Hauck F, Al-Herz W, Wagner M, Terhal PA, Muurinen M, Barlogis V, Cruz P, Danielson J, Stewart H, Loid P, Rading S, Keren B, Pfundt R, Zarember KA, Vill K, Potocki L, Olivier KN, Lesca G, Faivre L, Wong M, Puel A, Chou J, Tusseau M, Moutsopoulos NM, Matthews HF, Simons C, Taft RJ, Soldatos A, Masle-Farquhar E, Pittaluga S, Brink R, Fink DL, Kong HH, Kabat J, Kim WS, Bierhals T, Meguro K, Hsu AP, Gu J, Stoddard J, Banos-Pinero B, Slack M, Trivellin G, Mazel B, Soomann M, Li S, Watts VJ, Stratakis CA, Rodriguez-Quevedo MF, Bruel AL, Lipsanen-Nyman M, Saultier P, Jain R, Lehalle D, Torres D, Sullivan KE, Barbarot S, Neu A, Duffourd Y, Similuk M, McWalter K, Blanc P, Bézieau S, Jin T, Geha RS, Casanova JL, Makitie OM, Kubisch C, Edery P, Christodoulou J, Germain RN, Goodnow CC, Sakmar TP, Billadeau DD, Küry S, Katanaev VL, Zhang Y, Lenardo MJ, Su HC. Science.    

Impact of RYGB surgery on plasma immunoglobulins: association between blood pressure and glucose levels six months after surgery.    
Happonen N, Härma M-A, Akhi R, Nissinen AE, Savolainen MJ, Ruuth M, Öörni K, Adeshara K, Lehto M, Groop P-H, Koivukangas V, Hukkanen J, and Hörkkö S. APMIS.

Whole-exome and whole-genome sequencing of 1064 individuals with type 1 diabetes reveals novel genes for diabetic kidney disease.
Haukka JK, Antikainen AA, Valo E, Syreeni A, Dahlström EH, Lin BM, Franceschini N, Krolewski AS, Harjutsalo V, Groop PH, Sandholm N; FinnDiane Study Group. Diabetologia.    

Low-grade inflammation from prenatal period to age 6-8 years in a Vitamin D trial.
Hauta-Alus HH, Rosendahl J, Holmlund-Suila EM, Valkama SM, Enlund-Cerullo M, Nurhonen M, Kajantie E, Mäkitie O, Andersson S. Pediatric Research.    

Increased type 1 inflammation in gynecologic cervicovaginal samples in patients with APS-1.
Hetemäki I, Saari V, Yohannes DA, Holopainen E, Holster T, Jokiranta S, Mäyränpää MI, Virtanen S, Mäkitie O, Kekäläinen E, Laakso S. Journal of Allergy and Clinical Immunology.    

Reduction in mucosal-associated invariant T cells (MAIT) in APECED patients is associated with elevated serum IFN-γ concentration.
Hetemäki I, Sarkkinen J, Wong HH, Heikkilä N, Laakso S, Miettinen S, Mäyränpää MI, Mäkitie O, Arstila TP, Kekäläinen E. European Journal of Immunology.

The DoGA Consortium expression atlas of promoters and genes in 100 canine tissues.
Hörtenhuber M, Hytönen MK, Mukarram AK, Arumilli M, Araujo C, Quintero I, Syrjä P, Airas N, Kaukonen M, Kyöstilä K, Jokinen TS, Raman A, Stevens I, Iivanainen A, Yoshihara M, Gusev O, Bannasch D, Sukura A, Schoenebeck J, DoGA Consortium, Sini Ezer S, Katayama S, Daub CO, Kere J, Lohi H. Nature Communications.    

The functional role of CST1 and CCL26 in asthma development.
Hoyer A, Chakraborty S, Lilienthal I, Konradsen JR, Katayama S, Söderhäll C. Immunity, inflammation and disease.    

RFX6 haploinsufficiency predisposes to diabetes through impaired beta cell functionality.
Ibrahim H, Balboa D, Saarimäki-Vire J, Montaser H, Dyachok O, Lund P-E, Omar-Hmeadi M, KvistJ, Dwivedi OP, Lithovius V, Barsby T, Chandra V, Eurola S, Ustinov J, Tuomi T, Miettinen PJ, Barg S, Tengholm T, Otonkoski T. Diabetologia.    

Lessons learned from the FinnDiane Study: Epidemiology and metabolic risk factors for diabetic kidney disease in type 1 diabetes. 
Jansson Sigfrids F, Lithovius R, Groop PH, Thorn LM. Diabetic Medicine.

Heterogenous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort.
Järvelä I, Paetau RA, Rajendran Y, Acharya A, Bharadwaj T, Leal SM, Lehesjoki A-E, Palomäki M, Schrauwen I. Brain Communications.    

A retrospective longitudinal study of 52 Finnish patients with X-linked retinoschisis.
Järvinen MA, Baraas RC, Majander A, Backlund MP, Krootila J, Paavo M, Lindahl P, Vasara K, Sankila EM, Kivelä TT, Turunen JA. Acta Ophthalmologica.    

Epilepsies with onset during the first year of life: a prospective study on syndromes, etiologies, and outcomes.
Jonsson H, Gaily E, Stjerna S, Joensuu T, Johari M, Lehesjoki A-E, Linnankivi T. Epilepsia Open.    

Low expression of the CCL5 gene and low serum concentrations of CCL5 in severe invasive group a streptococcal disease.
Kailankangas V, Katayama S, Gröndahl-Yli-Hannuksela K, Vilhonen J, Tervaniemi MH, Rantakokko-Jalava K, Seiskari T, Lönnqvist E, Kere J, Oksi J, Syrjänen J, Vuopio J. Infection.    

The hidden epidemic: Uncovering Incidental Fatty Liver Disease and its Metabolic Comorbidities by Datamining in a Hospital Data Lake – a Real-world Cohort Study.
Karhiaho IP, Kurki SH, Parviainen HI, Kullamaa L, Färkkilä M, Matikainen N#, Tuomi T. Diabetes Research and Clinical Practice.    

Skeletal Phenotype in Mulibrey Nanism, A Monogenic Skeletal Dysplasia With Fibrous Dysplasia.
Karlberg S, Toiviainen-Salo S, Lipsanen-Nyman M, Mäkitie O. Clinical Genetics.

Functional consequences of pathogenic variant c.61G>C in the inflammasome gene NLRP3 underlying keratitis fugax hereditaria.
Kawan S, Backlund MP, Immonen AT, Kivelä TT, Turunen JA. British Journal of Ophthalmology.    

A Novel Role for FERM Domain-Containing Protein 3 (FRMD3) in CKD.
Kennedy C, Doyle R, Gough O, Mcevoy C, Anallen SM, Hughes M, Sheng X, Crifo B, Andrews D, Gaffney A, Rodriguez J, Kennedy S, Dillon E, Crean D, Zhang W, Yi Z, Nair V, Susztak K, Hirschhorn J, Florez J, Groop PH, Sandholm N, Kretzler M, Mckay GJ, Mcknight AJ, Maxwell AP, Matallanas D, Dorman A, Martin F, Conlon PJ, Sadlier DM, Brennan E, Godson C, Genie Consortium. Kidney360.    

Unraveling the Genetic Basis of Congenital Limb Anomalies in Eight Families.
Khan IU, Abdullah, Khan H, Ali A, Sani A, Khan FU, Ullah MT, Ahmed S, Liaqat R, Haider A, Ullah K, Ullah N, Khan MS, Hussain S, Ullah I, Ullah A, Anees M, Makitie O, Ahmad W. Clinical Genetics.    

Frequency of Idiopathic Epilepsy Risk Associated Alleles Over Time in Belgian Tervuren.
Kinsey N, Belanger J, Mandigers PJJ, Leegwater PA, Heinonen T, Hytönen MK, Lohi H, Ostrander EA, Oberbauer AE. Genes.    

Genetic variants for head size share genes and pathways with cancer.
Knol MJ, Poot RA, Evans TE, Satizabal CL, Mishra A, Sargurupremraj M, van der Auwera S, Duperron MG, Jian X, Hostettler IC, van Dam-Nolen DHK, Lamballais S, Pawlak MA, Lewis CE, Carrion-Castillo A, van Erp TGM, Reinbold CS, Shin J, Scholz M, Håberg AK, Kämpe A, Li GHY, Avinun R, Atkins JR, Hsu FC, Amod AR, Lam M, Tsuchida A, Teunissen MWA, Aygün N, Patel Y, Liang D, Beiser AS, Beyer F, Bis JC, Bos D, Bryan RN, Bülow R, Caspers S, Catheline G, Cecil CAM, Dalvie S, Dartigues JF, DeCarli C, Enlund-Cerullo M, Ford JM, Franke B, Freedman BI, Friedrich N, Green MJ, Haworth S, Helmer C, Hoffmann P, Homuth G, Ikram MK, Jack CR, Jahanshad N, Jockwitz C, Kamatani Y, Knodt AR, Li S, Lim K, Longstreth WT, Macciardi F; Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium; Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium; Mäkitie O, Mazoyer B, Medland SE, Miyamoto S, Moebus S, Mosley TH, Muetzel R, Mühleisen TW, Nagata M, Nakahara S, Palmer ND, Pausova Z, Preda A, Quidé Y, Reay WR, Roshchupkin GV, Schmidt R, Schreiner PJ, Setoh K, Shapland CY, Sidney S, St Pourcain B, Stein JL, Tabara Y, Teumer A, Uhlmann A, van der Lugt A, Vernooij MW, Werring DJ, Windham BG, Witte AV, Wittfeld K, Yang Q, Yoshida K, Brunner HG, Le Grand Q, Sim K, Stein DJ, Bowden DW, Cairns MJ, Hariri AR, Cheung CL, Andersson S, Villringer A, Paus T, Cichon S, Calhoun VD, Crivello F, Launer LJ, White T, Koudstaal PJ, Houlden H, Fornage M, Matsuda F, Grabe HJ, Ikram MA, Debette S, Thompson PM, Seshadri S, Adams HHH. Cell Reports Medicine.

A de novo PRPF8 Pathogenic Variant in Transient Severe Hypophosphatemia with Delayed Puberty and Growth Failure.
Koljonen L, Salonen P, Rusanen S, Mäyränpää MK, Pekkinen M, Mäkitie O. Hormone Research in Paediatrics.    

Genome-wide association study of anterior uveitis.
Koskimäki F, Ahokas O, Kajanne R, Saviauk KR, Elnahas A, Reigo A, Reis K, Esko T, Palta P, Leinonen S, Kettunen J, Liinamaa J, Karjalainen MK, Saarela V; Estonian Biobank Research Team Consortium; FinnGen Consortium (including Tuomi T, Turunen J); Estonian Biobank Research Team Consortium authors. British Journal of Ophthalmology.    

Neurological Diseases and Prevalence of Antineuronal Antibodies in Patients with Autoimmune Polyendocrine Syndrome Type 1 - A National Cohort Study.
Laakso SM, Häkkinen A, Mäkitie O, Laakso S. Journal of Clinical Immunology.

Myosin ATPase inhibition fails to rescue the metabolically dysregulated proteome of nebulin-deficient muscle.
Laitila J, Seaborne RAE, Ranu N, Kolb JS, Wallgren-Pettersson C, Witting N, Vissing J, Vilchez JJ, Zanoteli E, Palmio J, Huovinen S, Granzier H, Ochala J. The Journal of Physiology.    

Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.
Lehtonen J, Sulonen AM, Almusa H, Lehtokari VL, Johari M, Palva A, Hakonen AH, Wartiovaara K, Lehesjoki AE, Udd B, Wallgren-Pettersson C, Pelin K, Savarese M, Saarela J. Scientific Reports.    

Adherence to cardio-protective medications and cardiovascular disease in adults with type 1 diabetes. 
Lithovius R, Mutter S, Parente EB, Harjutsalo V, Groop P-H. Diabetes Research and Clinical Practice.    

Applying a genetic risk score model to enhance prediction of future multiple sclerosis diagnosis at first presentation with optic neuritis.
Loginovic P, Wang F, Li J, Ferrat L, Mirshahi UL, Rao HS, Petzold A, Tyrrell J, Green HD, Weedon MN, Ganna A, Tuomi T, Carey DJ, Oram RA, Braithwaite T, FinnGen Consortium (including Turunen J), The UKBB Eye & Vision Consortium. Nature Communications.

Rare gene variants and weight loss at 10 years after sleeve gastrectomy and gastric bypass – a randomized clinical trial.
Loid P, Grönroos S, Hurme S, Salminen P, Mäkitie O. Surgery for Obesity and Related Diseases.    

Novel Insights: A Novel PHIP Variant in a Family with Severe Early-Onset Obesity.
Loid P, Vuorela N, Aaltonen K, Kuittinen J, Mäkitie O. Hormone Research in Paediatrics.

Ketogenic Diet Protects from Experimental Colitis in a Mouse Model Regardless of Dietary Fat Source.
Luiskari L, Lindén J, Lehto M, Salmenkari H, Korpela R. Nutrients.

Genetic architecture of oral glucose-stimulated insulin release provides biological insights into type 2 diabetes aetiology.
Madsen AL, Bonàs-Guarch S, Gheibi S, Prasad R, Vangipurapu J, Ahuja V, Cataldo LR, Dwivedi O, Hatem G, Atla G, Guindo-Martínez M, Jørgensen AM, Jonsson AE, Miguel-Escalada I, Hassan S, Linneberg A, Ahluwalia TS, Drivsholm T, Pedersen O, Sørensen TIA, Astrup A, Witte D, Damm P, Clausen TD, Mathiesen E, Pers TH, Loos RJF, Hakaste L, Fex M, Grarup N, Tuomi T, Laakso M, Mulder H, Ferrer J, Hansen T. Nature Metabolism.

Risk of thyroid cancer in people with type 1 diabetes by autoimmune thyroid diseases and tumor histology. 
Mäkimattila S, Harjutsalo V, Feodoroff M, Groop P-H, on behalf of the FinnDiane Study Group. Journal of the Endocrine Society.    

Sarcomere level mechanics of the fast skeletal muscle of the medaka fish larva.
Marcello M, Cetrangolo V, Morotti I, Squarci C, Caremani M, Reconditi M, Savarese M, Bianco P, Piazzesi G, Lombardi V, Udd B, Conte I, Nigro V, Linari M. American Journal of Physiology: Cell Physiology.    

Comprehensive Inherited Risk Estimation for Risk-Based Breast Cancer Screening in Women.
Mars N, Kerminen S, Tamlander M, Pirinen M, Jakkula E, Aaltonen K, Meretoja T, Heinävaara S, Widén E, Ripatti S; FinnGen Consortium (including Tuomi T, Turunen J). Journal of Clinical Oncology.    

Role of Systemic Factors in Improving the Prognosis of Diabetic Retinal Disease and Predicting Response to Diabetic Retinopathy Treatment.
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Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.
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Tumor suppressive role of the antimicrobial lectin REG3A targeting the O -GlcNAc glycosylation pathway.
Moniaux N, Geoffre N, Deshayes A, Dos Santos A, Job S, Lacoste C, Nguyen TS, Darnaud M, Friedel-Arboleas M, Guettier C, Purhonen J, Kallijärvi J, Amouyal G, Amouyal P, Bréchot C, Vivès RR, Buendia MA, Issad T, Faivre J. Hepatology.

Insulin sensitivity estimates and their longitudinal association with coronary artery disease in type 1 diabetes. Does it matter?
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Precision treatment of beta-cell monogenic diabetes: a systematic review.
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Nurkkala JM, Aittokallio J; FinnGen Consortium (including Tuomi T, Turunen J); Kauko A, Niiranen T. Interdisciplinary cardiovascular and thoracic surgery.

The effect of type 1 diabetes protection and susceptibility associated HLA class II genotypes on DNA methylation in immune cells.
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Genetic susceptibility to acute viral bronchiolitis.
Pasanen A, Karjalainen MK, Korppi M, Hallman M, Rämet M; FinnGen Consortium (including Tuomi T, Turunen J). The Journal of Infectious Diseases.

Titin copy number variations associated with dominant inherited phenotypes.
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The Role of Prenatal Ultrasound and Added Value of Post-Mortem Radiographic Imaging With X-Ray and CT in Suspected Fetal Skeletal Dysplasia.
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Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.
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Pathogenic Germline Variants in Uveal Melanoma Driver and BAP1 Associated Genes in Finnish Patients with Uveal Melanoma.
Repo P, Salminen E, Hiltunen J, Putkuri H, Staskiewicz-Tuikkanen A, Järvinen RS, Täll M, Raivio V, Al-Jamal R, Kivelä TT, Turunen JA. Pigment Cell and Melanoma Research.

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Prospective In Vivo Confocal Microscopy of the Central Cornea in Terrien's Marginal Degeneration.
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Progressive Impairment of Prepubertal Growth in Children With APECED.    
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Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations.
Salo V, Määttä J, Sliz E; FinnGen Consortium (including Tuomi T, Turunen J); Reimann E, Mägi R; Estonian Biobank Research Team; Reis K, Elhanas AG, Reigo A, Palta P, Esko T, Karppinen J, Kettunen J. Nature Communications.    

Autoimmune diseases and the risk and prognosis of latent autoimmune diabetes in adults.
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Increased incidence of neurodegenerative diseases in Finnish individuals with type 1 diabetes.
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Precision stratification of prognostic risk factors associated with outcomes in gestational diabetes mellitus: a systematic review.
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Excessive occupational sitting increases risk of cardiovascular events among working individuals with type 1 diabetes in the prospective Finnish Diabetic Nephropathy Study.
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Sham-Controlled Randomized Pilot Trial on Baroreflex Activation Therapy in Resistant Hypertension.
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Effect of baroreflex activation therapy in individuals with resistant hypertension: A randomized sham-controlled clinical pilot trial.
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Creation and Validation of a Tool for Evaluating “Puppy Blues” – Temporary Feelings of Anxiety and Frustration Resembling Baby Blues.
Ståhl A, Salonen M, Hakanen E, Mikkola S, Sulkama S, Lahti J, Lohi H. Npj Mental Health Research.    

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Retinal artery to vein ratio is associated with cerebral microbleeds in individuals with type 1 diabetes.
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Progressive Myoclonus Epilepsy: Unverricht-Lundborg Disease.
Tegelberg S, Joensuu T, Lehesjoki AE. Jasper's Basic Mechanisms of the Epilepsies. 5th edition.    

Transcriptomic profiling of the oocyte-cumulus-granulosa cell complex from estrogen receptor beta knockout mice.    
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Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
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SPARCL1 sparkles new insight into corneal dystrophies.
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Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia.
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The Pediatric Choroidal and Ciliary Body Melanoma Genetical Study: A Survey by the European Ophthalmic Oncology Group.
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TWINGEN: protocol for an observational clinical biobank recall and biomarker cohort study to identify Finnish individuals with high risk of Alzheimer's disease.
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Historic dog furs unravel the origin and artificial selection of modern Nordic Lapphund and Elkhound dog breeds.
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Metabolic profiling of smoking, associations with type 2 diabetes and interaction with genetic susceptibility.
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Molecular cloning of PRD-like homeobox genes expressed in bovine oocytes and early IVF embryos.
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High-Resolution Genotyping of Formalin-Fixed Tissue Accurately Estimates Polygenic Risk Scores in Human Diseases.
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A comprehensive human embryo reference tool using single-cell RNA-sequencing data.
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Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions.
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