Genetics

Computational approach to evaluate scRNA-seq data quality and gene body coverage with SkewC.
Abugessaisa I, Hasegawa A, Katayama S, Kere J, Kasukawa T. STAR Protocols.

Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly.
Ahmad S, Ali MZ, Muzammal M, Khan AU, Ikram M, Muurinen M, Hussain S, Loid P, Khan MA, Mäkitie O. Genes.

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Akula SK, Chen AY, Neil JE, Shao DD, Mo A, Hylton NK, DiTroia S, Ganesh VS, Smith RS, O'Kane K, Yeh RC, Marciano JH, Kirkham S, Kenny CJ, Song JHT, Al Saffar M, Millan F, Harris DJ, Murphy AV, Klemp KC, Braddock SR, Brand H, Wong I, Talkowski ME, O'Donnell-Luria A, Lai A, Hill RS, Mochida GH, Doan RN, Barkovich AJ, Yang E, Amrom D, Andermann E, Poduri A, Walsh CA; Polymicrogyria Genetics Research Network (including Lehesjoki A-E). JAMA Neurology.

Advancing intercontinental collaboration in human genetics: success story of the African and European Young Investigator Forum.
Alimohamed MZ, Mnika K, Adadey SM, Barbosa-Matos R, Avram E, Nevondwe P, Akurugu WA, Mupfururirwa W, de Miranda Cerqueira JX, Dore R, Săbău ID, Kalantari S, da Silva ARGF, Anzaku AA, Matimba A, Chauke PA, Johari M, Nembaware V, Mroczek M. European Journal of Human Genetics.

Effects of exercise on whole-blood transcriptome profile in children with overweight/obesity.
Altmäe S, Plaza-Florido A, Esteban FJ, Anguita-Ruiz A, Krjutškov K, Katayama S, Einarsdottir E, Kere J, Radom-Aizik S, Ortega FB. American Journal of Human Biology. 

Metabolomics during canine pregnancy and lactation.
Arlt SP, Ottka C, Lohi H, Hinderer J, Lüdeke J, Müller E, Weber C, Kohn B, Bartel A. PLoS One. 

Oral findings in patients with cartilage-hair hypoplasia - cross-sectional observational study.
Arponen H, Vakkilainen S, Rautava J, Mäkitie O. Orphanet Journal of Rare Diseases. 

Superhydrophilic/Superhydrophobic Droplet Microarrays of Low Surface Tension Biofluids for Nucleic Acid Detection.
Awashra M, Elomaa P, Ojalehto T, Saavalainen P, Jokinen V. Advanced Materials Interfaces. 

Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients.
Baban A, Cicenia M, Magliozzi M, Parlapiano G, Cirillo M, Pascolini G, Fattori F, Gnazzo M, Bruno P, De Luca L, Di Chiara L, Francalanci P, Udd B, Secinaro A, Amodeo A, Bertini ES, Savarese M, Drago F, Novelli A. Frontiers in Cardiovascular Medicine.

Capturing the Kidney Transcriptome by Urinary Extracellular Vesicles-From Pre-Analytical Obstacles to Biomarker Research.
Barreiro K, Dwivedi OP, Rannikko A, Holthöfer H, Tuomi T, Groop PH, Puhka M. Genes.

Precision gestational diabetes treatment: a systematic review and meta-analyses.
Benham JL, Gingras V, McLennan NM, Most J, Yamamoto JM, Aiken CE, Ozanne SE, Reynolds RM; ADA/EASD PMDI (including Tuomi T). Communications Medicine.

Genetic and protein interaction studies between the ciliary dyslexia candidate genes DYX1C1 and DCDC2.
Bieder A, Chandrasekar G, Wason A, Erkelenz S, Gopalakrishnan J, Kere J, Tapia-Páez I. BMC Molecular and Cell Biology.

Impact of individual and environmental factors on dietary or lifestyle interventions to prevent type 2 diabetes development: a systematic review.
Bodhini D, Morton RW, Santhakumar V, Nakabuye M, Pomares-Millan H, Clemmensen C, Fitzpatrick SL, Guasch-Ferre M, Pankow JS, Ried-Larsen M, Franks PW; ADA/EASD PMDI (including Tuomi T); Tobias DK, Merino J, Mohan V, Loos RJF. Communications Medicine.

Epidemiology and causes of primary adrenal insufficiency in children: A population-based study.
Borchers J, Pukkala E, Mäkitie O, Laakso S. The Journal of Clinical Endocrinology & Metabolism.

Optimized single-cell RNA sequencing protocol to study early genome activation in mammalian preimplantation development.
Boskovic N, Yazgeldi G, Ezer S, Tervaniemi MH, Inzunza J, Deligiannis SP, Yaşar B, Skoog T, Krjutškov K, Katayama S, Kere J. STAR Protocols.

Phosphorylation of PACSIN2 at S313 regulates podocyte morphology by controlling cytoskeletal arrangement.
Bouslama R, Dumont VP, Lindfors S, Paavolainen L, Tienari J, Nisèn H, Mirtti T, Salem MA, Gordin D, Groop P-H, Suetsugu S, Lehtonen SH. Cells.

Genetic dissection of serum vaspin highlights its causal role in lipid metabolism.
Breitfeld J, Horn K, Le Duc D, Velluva A, Marzi C, Grallert H, Friedrich N, Pietzner M, Völker U, Völzke H, Ahlqvist E, Aly DM, Tuomi T, Baber R, Kratzsch J, Thiery J, Isermann B, Loeffler M, Klöting N, Blüher M, Stumvoll M, Heiker JT, Tönjes A, Scholz M, Kovacs P. Obesity.

Loci for insulin processing and secretion provide insight into type 2 diabetes risk.
Broadaway KA, Yin X, Williamson A, Parsons VA, Wilson EP, Moxley AH, Vadlamudi S, Varshney A, Jackson AU, Ahuja V, Bornstein SR, Corbin LJ, Delgado GE, Dwivedi OP, Fernandes Silva L, Frayling TM, Grallert H, Gustafsson S, Hakaste L, Hammar U, Herder C, Herrmann S, Højlund K, Hughes DA, Kleber ME, Lindgren CM, Liu CT, Luan J, Malmberg A, Moissl AP, Morris AP, Perakakis N, Peters A, Petrie JR, Roden M, Schwarz PEH, Sharma S, Silveira A, Strawbridge RJ, Tuomi T, Wood AR, Wu P, Zethelius B, Baldassarre D, Eriksson JG, Fall T, Florez JC, Fritsche A, Gigante B, Hamsten A, Kajantie E, Laakso M, Lahti J, Lawlor DA, Lind L, März W, Meigs JB, Sundström J, Timpson NJ, Wagner R, Walker M, Wareham NJ, Watkins H, Barroso I, O'Rahilly S, Grarup N, Parker SC, Boehnke M, Langenberg C, Wheeler E, Mohlke KL. American Journal of Human Genetics.

Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant.
Cardone N, Moula M, Baelde RJ, Biquand A, Villanova M, Metay C, Fiorillo C, Baratto S, Merlini L, Sabatelli P, Romero NB, Relaix F, Authier FJ, Taglietti V, Savarese M, de Winter J, Ottenheijm C, Richard I, Malfatti E. Acta Neuropathologica Communications.

Translational veterinary epilepsy: A win-win situation for human and veterinary neurology.
Charalambous M, Fischer A, Potschka H, Walker MC, Raedt R, Vonck K, Boon P, Lohi H, Löscher W, Worrell G, Leeb T, McEvoy A, Striano P, Kluger G, Galanopoulou AS, Volk HA, Bhatti SFM. Veterinary Journal.

A TNR Frameshift Variant in Weimaraner Dogs with an Exercise-Induced Paroxysmal Movement Disorder.
Christen M, Gutierrez-Quintana R, James M, Faller KME, Lowrie M, Rusbridge C, Bossens K, Mellersh C, Pettitt L, Heinonen T, Lohi H, Jagannathan V, Leeb T. Movement Disorders.

Human LUHMES and NES cells as models for studying primary cilia in neurons.
Coschiera A, Watts ME, Kere J, Tammimies K, Swoboda P. Methods in Cell Biology.

Cardiometabolic risk management: Insights from a European Society of Cardiology Cardiovascular Round Table.
Cosentino F, Verma S, Ambery P, Bach-Treppendahl M, van Eickels M, Anker S, Cecchini M, Fioretto P, Groop P-H, Hess D, Khunti K, Lam CSP, Richard-Lorderau I, Lund L, McGreavy P, Newsome P, Sattar N, Solomon S, Weidinger F, Zannad F, Zeiher A. European Heart Journal.

PLS3 Mutations in X Linked Osteoporosis: Clinical and Genetic Features in Five New Families.
Costa A, Martins A, Machado C, Lundberg E, Nilsson O, Wang F, Costantini A, Tournis S, Höppner J, Grasemann C, Mäkitie O. Calcified Tissue International.

CRISPR/Cas9-mediated activation of NR5A1 steers female human embryonic stem cell-derived bipotential gonadal-like cells towards a steroidogenic cell fate.
Danti L, Lundin K, Sepponen K, Yohannes DA, Kere J, Tuuri T, Tapanainen JS. Journal of Ovarian Research.

Human gain-of-function variants in HNF1A confer protection from diabetes but independently increase hepatic secretion of atherogenic lipoproteins.
DeForest N, Kavitha B, Hu S, Isaac R, Krohn L, Wang M, Du X, De Arruda Saldanha C, Gylys J, Merli E, Abagyan R, Najmi L, Mohan V, Alnylam Human Genetics, AMP-T2D Consortium (including Tuomi T), Flannick J, Peloso GM, Gordts P, Heinz S, Deaton AM, Khera AV, Olefsky J, Radha V, Majithia AR. Cell Genomics.

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Genetics in Medicine.

The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum.
Di Feo MF, Lillback V, Jokela M, McEntagart M, Homfray T, Giorgio E, Casalis Cavalchini GC, Brusco A, Iascone M, Spaccini L, D'Oria P, Savarese M, Udd B. Journal of Medical Genetics.

Genome-wide mRNA profiling in urinary extracellular vesicles reveals stress gene signature for diabetic kidney disease.
Dwivedi OP, Barreiro K, Käräjämäki A, Valo E, Giri AK, Prasad RB, Roy RD, Thorn LM, Rannikko A, Holthöfer H, Gooding KM, Sourbron S, Delic D, Gomez MF; iBEAt; Groop PH, Tuomi T, Forsblom C, Groop L, Puhka M. iScience.

Incidence of LADA and Type 2 Diabetes in Relation to Tobacco Use and Genetic Susceptibility to Type 2 Diabetes and Related Traits: Findings From a Swedish Case-Control Study and the Norwegian HUNT Study.
Edstorp J, Ahlqvist E, Alfredsson L, Mansour Aly D, Grill V, Rasouli B, Sørgjerd EP, Tuomi T, Åsvold BO, Carlsson S. Diabetes Care.

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.

Smoking, use of smokeless tobacco, HLA genotypes and incidence of latent autoimmune diabetes in adults.
Edstorp J, Wei Y, Ahlqvist E, Alfredsson L, Grill V, Groop L, Rasouli B, Sørgjerd EP, Thorsby PM, Tuomi T, Åsvold BO, Carlsson S. Diabetologia.

Variation in the fibroblast growth factor 23 (<i>FGF23</i>) gene associates with serum FGF23 and bone strength in infants.
Enlund-Cerullo M, Holmlund-Suila E, Valkama S, Hauta-Alus H, Rosendahl J, Andersson S, Pekkinen M, Mäkitie O. Frontiers in Genetics.

Haptoglobin genotype and its relation to asymptomatic cerebral small-vessel disease in type 1 diabetes.
Eriksson MI, Syreeni A, Sandholm N, Dahlström EH, Gordin D, Tatlisumak T, Putaala J, Groop PH, Martola J, Thorn LM; FinnDiane Study Group. Acta Diabetologica.

Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
Esteller D, Schiava M, Villar-Quiles RN, Dibowski B, Venturelli N, Laforet P, Alonso-Pérez J, Olive M, Domínguez-González C, Paradas C, Vélez B, Kostera-Pruszczyk A, Kierdaszuk B, Rodolico C, Claeys K, Pál E, Malfatti E, Souvannanorath S, Alonso-Jiménez A, de Ridder W, De Smet E, Papadimas G, Papadopoulos C, Xirou S, Luo S, Muelas N, Vilchez JJ, Ramos-Fransi A, Monforte M, Tasca G, Udd B, Palmio J, Sri S, Krause S, Schöser B, Fernández-Torrón R, López de Munain A, Pegoraro E, Farrugia ME, Vorgerd M, Manousakis G, Chanson JB, Nadaj-Pakleza A, Cetin H, Badrising U, Warman-Chardon J, Bevilacqua J, Earle N, Campero M, Díaz J, Ikenaga C, Lloyd TE, Nishino I, Nishimori Y, Saito Y, Oya Y, Takahashi Y, Nishikawa A, Sasaki R, Marini-Bettolo C, Guglieri M, Straub V, Stojkovic T, Carlier RY, Díaz-Manera J. Journal of Neurology.

Disease-modifying therapies and features linked to treatment response in type 1 diabetes prevention: a systematic review.
Felton JL, Griffin KJ, Oram RA, Speake C, Long SA, Onengut-Gumuscu S, Rich SS, Monaco GSF, Evans-Molina C, DiMeglio LA, Ismail HM, Steck AK, Dabelea D, Johnson RK, Urazbayeva M, Gitelman S, Wentworth JM, Redondo MJ, Sims EK; ADA/EASD PMDI (including Tuomi T). Communications Medicine.

Bone fragility and osteoporosis in children and young adults.
Formosa MM, Christou MA, Mäkitie O. Journal of Endocrinological Investigation.

Refining the diagnosis of gestational diabetes mellitus: a systematic review and meta-analysis.
Francis EC, Powe CE, Lowe WL Jr, White SL, Scholtens DM, Yang J, Zhu Y, Zhang C, Hivert MF, Kwak SH, Sweeting A; ADA/EASD PMDI (including Tuomi T). Communications Medicine.

Intranasal administration of adenoviral vaccines expressing SARS-CoV-2 spike protein improves vaccine immunity in mouse models.
Freitag T, Fagerlund R, Karam NL, Leppänen V-M, Ugurlu H, Kant R, Mäkinen P, Tawfek A, Jha SK, Strandin T, Leskinen K, Hepojoki J, Kesti T, Kareinen L, Kuivanen S, Koivulehto E, Sormunen A, Laidinen S, Khattab A, Saavalainen P, Meri S, Kipar A, Sironen T, Vapalahti O, Alitalo K, Ylä-Herttuala S, Saksela K. Vaccine.

Comprehensive characterization of the embryonic factor LEUTX.
Gawriyski L, Jouhilahti EM, Yoshihara M, Fei L, Weltner J, Airenne TT, Trokovic R, Bhagat S, Tervaniemi MH, Murakawa Y, Salokas K, Liu X, Miettinen S, Bürglin TR, Sahu B, Otonkoski T, Johnson MS, Katayama S, Varjosalo M, Kere J. iScience.

Progressive mitochondrial dysfunction in cerebellar synaptosomes of cystatin B-deficient mice.
Gorski K, Jackson CB, Nyman TA, Rezov V, Battersby BJ, Lehesjoki AE. Frontiers in Molecular Neuroscience.

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.

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 A, Savolainen MJ, Ruuth M, Öörni K, Adeshara K, Lehto M, Groop P-H, Koivukangas V, Hukkanen J, Hörkkö S. APMIS.

Chronic limb threatening ischemia in individuals with type 1 diabetes – the impact of diabetic nephropathy and severe diabetic retinopathy.
Harjutsalo V, Kallio M, Forsblom C, Groop P-H, on behalf of the FinnDiane Study. The Lancet regional health - Europe.

Residual insulin secretion in Finnish individuals with type 1 diabetes.
Harsunen M, Haukka J, Harjutsalo V, Mars N, Syreeni A, Härkönen T, Käräjämäki A, Ilonen J, Knip M, Sandholm N, Miettinen PJ, Groop P-H, Tuomi T. The Lancet Diabetes & Endocrinology.

Identification of monogenic variants in more than ten per cent of children without type 1 diabetes-related autoantibodies at diagnosis in the Finnish Pediatric Diabetes Register.
Harsunen M, Kettunen JLT, Härkönen T, Dwivedi O, Lehtovirta M, Vähäsalo P, Veijola R, Ilonen J, Miettinen PJ, Knip M, Tuomi T. Diabetologia.

Individuals with type 1 diabetes and chronic kidney disease urgently need new therapies: a call for action.
Heerspink HJL, Cherney D, Groop P-H, Matthieu C, Rossing P, Tuttle K, McGill JB. The Lancet Diabetes & Endocrinology.

A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia.
Heinonen T, Flegel T, Müller H, Kehl A, Hundi S, Matiasek K, Fischer A, Donner J, Forman OP, Lohi H, Hytönen MK. Human Genetics.

An insulin hypersecretion phenotype precedes pancreatic β cell failure in MODY3 patient-specific cells.
Hermann FM, Kjærgaard MF, Tian C, Tiemann U, Jackson A, Olsen LR, Kraft M, Carlsson PO, Elfving IM, Kettunen JLT, Tuomi T, Novak I, Semb H. Cell Stem Cell.

Dysregulated germinal centre reaction with expanded T follicular helper cells in APECED lymph nodes.
Hetemäki I, Sarkkinen J, Heikkilä N, Drechsel K, Mäyränpää MI, Färkkilä A, Laakso S, Mäkitie O, Arstila TP, Kekäläinen E. Journal of Allergy and Clinical Immunology.

Differential Methylation of Telomere-Related Genes Is Associated with Kidney Disease in Individuals with Type 1 Diabetes.
Hill C, Duffy S, Kettyle LM, McGlynn L, Sandholm N, Salem RM, Thompson A, Swan EJ, Kilner J, Rossing P, Shiels PG, Lajer M, Groop PH, Maxwell AP, McKnight AJ, On Behalf Of The Genie Consortium. Genes.

A frameshift deletion in F8 associated with hemophilia A in Labrador Retriever dogs.
Hytönen MK, Viitanen S, Hundi S, Donner J, Lohi H, Kaukonen M. Animal Genetics.

No correlation between carotid intima-media thickness and long-term glycemic control in individuals with type 1 diabetes.
Inkeri J, Harjutsalo V, Martola J, Putaala J, Groop PH, Gordin D, Thorn LM; FinnDiane Study Group. Acta Diabetologica.

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture.
International League Against Epilepsy Consortium on Complex Epilepsies. Nature Genetics.

Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy.
Ishaq T, Loid P, Ishaq HA, Seo GH, Mäkitie O, Naz S. BMC Musculoskeletal Disorders.

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia
Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S. Human Genetics and Genomics Advances.

Utility and precision evidence of technology in the treatment of type 1 diabetes: a systematic review.
Jacobsen LM, Sherr JL, Considine E, Chen A, Peeling SM, Hulsmans M, Charleer S, Urazbayeva M, Tosur M, Alamarie S, Redondo MJ, Hood KK, Gottlieb PA, Gillard P, Wong JJ, Hirsch IB, Pratley RE, Laffel LM, Mathieu C; ADA/EASD PMDI (including Tuomi T). Communications Medicine.

Diabeteksen munuaistauti tyypin 1 diabeteksessa - ennuste ei ole parantunut 40 vuoteen.
Jansson Sigfrids F, Harjutsalo V, Groop P-H. Duodecim.

The public health impact of poor sleep on severe COVID-19, influenza and upper respiratory infections.
Jones SE, Maisha FI, Strausz SJ, Lammi V, Cade BE, Tervi A, Helaakoski V, Broberg ME; FinnGen (including Tuomi T); Lane JM, Redline S, Saxena R, Ollila HM. EBioMedicine.

Repurposing host-guest chemistry to sequester virulence and eradicate biofilms in multidrug resistant Pseudomonas aeruginosa and Acinetobacter baumannii.
Jonkergouw C, Beyeh NK, Osmekhina E, Leskinen K, Taimoory SM, Fedorov D, Anaya-Plaza E, Kostiainen MA, Trant JF, Ras RHA, Saavalainen P, Linder MB. Nature Communications.

SINE-binding ZFP266 impedes mouse iPSC generation through suppression of chromatin opening mediated by reprogramming factors.
Kaemena DF, Yoshihara M, Beniazza M, Ashmore J, Zhao S, Bertenstam M, Olariu V, Katayama S, Okita K, Tomlinson SR, Yusa K, Kaji K. Nature Communications.

Altered acylcarnitine metabolism and inflexible mitochondrial fuel utilization characterize the loss of neonatal myocardial regeneration capacity.
Kankuri E, Finckenberg P, Leinonen J, Tarkia M, Björk S, Purhonen J, Kallijärvi J, Kankainen M, Soliymani R, Lalowski M, Mervaala E. Experimental and Molecular Medicine.

Reduced methylation correlates with diabetic nephropathy risk in type 1 diabetes.
Khurana I, Kaipananickal H, Maxwell S, Birkelund S, Syreeni A, Forsblom C, Okabe J, Ziemann M, Kaspi A, Rafehi H, Jørgensen A, Al-Hasani K, Thomas MC, Jiang G, Luk AO, Lee HM, Huang Y, Thewjitcharoen Y, Nakasatien S, Himathongkam T, Fogarty C, Njeim R, Eid A, Hansen TW, Tofte N, Ottesen EC, Ma RC, Chan JC, Cooper ME, Rossing P, Groop PH, El-Osta A. The Journal of Clinical Investigation.

Genetic predictors of lifelong medication-use patterns in cardiometabolic diseases.
Kiiskinen T, Helkkula P, Krebs K, Karjalainen J, Saarentaus E, Mars N, Lehisto A, Zhou W, Cordioli M, Jukarainen S, Rämö JT, Mehtonen J, Veerapen K, Räsänen M, Ruotsalainen S, Maasha M; FinnGen; Niiranen T, Tuomi T, Salomaa V, Kurki M, Pirinen M, Palotie A, Daly M, Ganna A, Havulinna AS, Milani L, Ripatti S. Nature Medicine.

Hypertensive pregnancy complications and maternal characteristics as predictors of cardiovascular health within ten years after delivery.
Kivelä A, Heinonen S, Kivinen K, Kere J, Kajantie E, Jääskeläinen T, Laivuori H; FINNPEC Study Group. Pregnancy Hypertension.

A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma.
Kivirikko S, Ranki A, Kere J, Kettunen K, Hannula-Jouppi K. Journal of the European Academy of Dermatology and Venereology.

L-type calcium channel blocker increases VEGF concentrations in retinal cells and human serum.
Kumar A, Mutter S, Parente EB, Harjutsalo V, Lithovius R, Mathavan S, Lehto M, Hiltunen TP, Kontula KK, Groop PH. PLoS One.

FinnGen provides genetic insights from a well-phenotyped isolated population.
Kurki MI, Karjalainen J, Palta P, Sipilä TP, Kristiansson K, Donner KM, Reeve MP, Laivuori H, Aavikko M, Kaunisto MA, Loukola A, Lahtela E, Mattsson H, Laiho P, Della Briotta Parolo P, Lehisto AA, Kanai M, Mars N, Rämö J, Kiiskinen T, Heyne HO, Veerapen K, Rüeger S, Lemmelä S, Zhou W, Ruotsalainen S, Pärn K, Hiekkalinna T, Koskelainen S, Paajanen T, Llorens V, Gracia-Tabuenca J, Siirtola H, Reis K, Elnahas AG, Sun B, Foley CN, Aalto-Setälä K, Alasoo K, Arvas M, Auro K, Biswas S, Bizaki-Vallaskangas A, Carpen O, Chen CY, Dada OA, Ding Z, Ehm MG, Eklund K, Färkkilä M, Finucane H, Ganna A, Ghazal A, Graham RR, Green EM, Hakanen A, Hautalahti M, Hedman ÅK, Hiltunen M, Hinttala R, Hovatta I, Hu X, Huertas-Vazquez A, Huilaja L, Hunkapiller J, Jacob H, Jensen JN, Joensuu H, John S, Julkunen V, Jung M, Junttila J, Kaarniranta K, Kähönen M, Kajanne R, Kallio L, Kälviäinen R, Kaprio J; FinnGen; Kerimov N, Kettunen J, Kilpeläinen E, Kilpi T, Klinger K, Kosma VM, Kuopio T, Kurra V, Laisk T, Laukkanen J, Lawless N, Liu A, Longerich S, Mägi R, Mäkelä J, Mäkitie A, Malarstig A, Mannermaa A, Maranville J, Matakidou A, Meretoja T, Mozaffari SV, Niemi MEK, Niemi M, Niiranen T, O Donnell CJ, Obeidat ME, Okafo G, Ollila HM, Palomäki A, Palotie T, Partanen J, Paul DS, Pelkonen M, Pendergrass RK, Petrovski S, Pitkäranta A, Platt A, Pulford D, Punkka E, Pussinen P, Raghavan N, Rahimov F, Rajpal D, Renaud NA, Riley-Gillis B, Rodosthenous R, Saarentaus E, Salminen A, Salminen E, Salomaa V, Schleutker J, Serpi R, Shen HY, Siegel R, Silander K, Siltanen S, Soini S, Soininen H, Sul JH, Tachmazidou I, Tasanen K, Tienari P, Toppila-Salmi S, Tukiainen T, Tuomi T, Turunen JA, Ulirsch JC, Vaura F, Virolainen P, Waring J, Waterworth D, Yang R, Nelis M, Reigo A, Metspalu A, Milani L, Esko T, Fox C, Havulinna AS, Perola M, Ripatti S, Jalanko A, Laitinen T, Mäkelä TP, Plenge R, McCarthy M, Runz H, Daly MJ, Palotie A. Nature.

Bone Tissue Evaluation Indicates Abnormal Mineralization in Patients with Autoimmune Polyendocrine Syndrome Type I: Report on Three Cases.
Laakso S, Xiaoyu T, Blouin S, Keplinger P, Välimäki VV, Kröger H, Mäkitie O, Hartmann MA. Calcified Tissue International.

Randomized controlled pilot study: effect of carrageenan emulsifier on inflammation and gastrointestinal symptoms in quiescent ulcerative colitis.
Laatikainen R, Lehto M, Mäkelä-Salmi N, Hillilä M, Groop PH, Salmenkari H. Food & Nutrition Research.

Associations between alcohol consumption and body fat distribution in type 1 diabetes.
Lampenius I, Harjutsalo V, Parente EB, Groop P-H, on behalf of the FinnDiane Study. Diabetes Research and Clinical Practice.

Antioxidant Nutrients and Risk of Latent Autoimmune Diabetes in Adults and Type 2 Diabetes: A Swedish Case-Control Study and Mendelian Randomization Analysis.
Lampousi AM, Löfvenborg JE, Ahlqvist E, Tuomi T, Wolk A, Carlsson S. Nutrients.

Nicotinamide riboside improves muscle mitochondrial biogenesis, satellite cell differentiation and gut microbiota composition in a twin study.
Lapatto HAK, Kuusela M, Heikkinen A, Muniandy M, van der Kolk BW, Gopalakrishnan S, Pöllänen N, Sandvik M, Schmidt MS, Heinonen S, Saari S, Kuula J, Hakkarainen A, Tampio J, Saarinen T, Taskinen M-R, Lundbom N, Groop P-H, Tiirola M, Katajisto P, Lehtonen M, Brenner C, Kaprio J, Pekkala S, Ollikainen M, Pietiläinen KH, Pirinen E. Science Advances.

Adverse effects of an aldosterone synthase (CYP11B2) inhibitor, fadrozole (FAD286), on inflamed rat colon.
Launonen H, Luiskari L, Linden J, Siltari A, Salmenkari H, Korpela R, Vapaatalo H. Basic & Clinical Pharmacology & Toxicology.

Associations between oxygen saturation, cardiovascular autonomic neuropathy, and microvascular disease in type 1 diabetes.
Laursen JC, Hansen CS, Bordino M, Frimodt-Möller M, Hansen TW, Bernardi L, Groop P-H, Rossing P. Journal of Diabetes Complications.

A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy.
Lehtokari VL, Sagath L, Davis M, Ho D, Kiiski K, Kettunen K, Demczko M, Stein R, Vatta M, Winder TL, Shohet A, Orenstein N, Krcho P, Bohuš P, Huovinen S, Udd B, Pelin K, Laing NG, Wallgren-Pettersson C. Neuromuscular Disorders.

Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study.
Lehtokari VL, Similä M, Tammepuu M, Wallgren-Pettersson C, Strang-Karlsson S, Hiekkala S. Orphanet Journal of Rare Diseases.

Genetic analyses implicate complex links between adult testosterone levels and health and disease.
Leinonen JT, Mars N, Lehtonen LE, Ahola-Olli A, Ruotsalainen S, Lehtimäki T, Kähönen M, Raitakari O; FinnGen Consortium; Piltonen T, Daly M, Tuomi T, Ripatti S, Pirinen M, Tukiainen T. Communications Medicine.

Multiple Origins and Genomic Basis of Complex Traits in Sighthounds.
Li WL, Liu YH, Li JX, Ding MT, Adeola AC, Isakova J, Aldashev AA, Peng MS, Huang X, Xie G, Chen X, Yang WK, Zhou WW, Ghanatsaman ZA, Olaogun SC, Sanke OJ, Dawuda PM, Hytönen MK, Lohi H, Esmailizadeh A, Poyarkov AD, Savolainen P, Wang GD, Zhang YP. Molecular Biology and Evolution.

Long-term favorable prognosis in late onset dominant distal titinopathy: Tibial muscular dystrophy.
Lillback V, Savarese M, Sandholm N, Hackman P, Udd B. European Journal of Neurology.

Participant characteristics in the prevention of gestational diabetes as evidence for precision medicine: a systematic review and meta-analysis.
Lim S, Takele WW, Vesco KK, Redman LM, Hannah W, Bonham MP, Chen M, Chivers SC, Fawcett AJ, Grieger JA, Habibi N, Leung GKW, Liu K, Mekonnen EG, Pathirana M, Quinteros A, Taylor R, Ukke GG, Zhou SJ; ADA/EASD PMDI (including Tuomi T); Josefson J. Communications Medicine.

Bayesian mixed model analysis uncovered 21 risk loci for chronic kidney disease in boxer dogs.
Lingaas F, Tengvall K, Jansen JH, Pelander L, Hurst MH, Meuwissen T, Karlsson Å, Meadows JRS, Sundström E, Thoresen SI, Arnet EF, Guttersrud OA, Kierczak M, Hytönen MK, Lohi H, Hedhammar Å, Lindblad-Toh K, Wang C. PLoS Genetics.

The many faces of hypertension in individuals with type 1 diabetes.
Lithovius R, Groop PH. Diabetes Research and Clinical Practice.

Medication profiling in women with type 1 diabetes highlights the importance of adequate, guideline based treatment in low risk groups.
Lithovius R, Mutter S, Parente BE, Valo E, Mäkinen VP, Harjutsalo V, Groop PH. Scientific Reports.

Association of APOE Haplotypes With Common Age-Related Ocular Diseases in 412,171 Individuals.
Liuska PJ, Rämö JT, Lemmelä S, Kaarniranta K, Uusitalo H, Lahtela E, Daly MJ, Harju M, Palotie A, Turunen JA; FinnGen Study. Investigative Ophthalmology & Visual Science.

Analysis of glaucoma genes in Finnish patients with juvenile open-angle glaucoma.
Liuska PJ, Tadji A, Repo P, Hiltunen J, Backlund M, Järvinen RS, Ojanen E, Majander A, Kivelä TT, Harju M, Turunen JA. Acta Ophthalmologica.

Ketogenic Diet High in Saturated Fat Promotes Colonic Claudin Expression without Changes in Intestinal Permeability to Iohexol in Healthy Mice.
Luiskari, L.; Launonen, H.; Lindén, J.; Lehto, M.; Vapaatalo, H.; Salmenkari, H.; Korpela, R. Nutrients.

Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture.
Meadows JRS, Kidd JM, Wang GD, Parker HG, Schall PZ, Bianchi M, Christmas MJ, Bougiouri K, Buckley RM, Hitte C, Nguyen AK, Wang C, Jagannathan V, Niskanen JE, Frantz LAF, Arumilli M, Hundi S, Lindblad-Toh K, Ginja C, Agustina KK, André C, Boyko AR, Davis BW, Drögemüller M, Feng XY, Gkagkavouzis K, Iliopoulos G, Harris AC, Hytönen MK, Kalthoff DC, Liu YH, Lymberakis P, Poulakakis N, Pires AE, Racimo F, Ramos-Almodovar F, Savolainen P, Venetsani S, Tammen I, Triantafyllidis A, vonHoldt B, Wayne RK, Larson G, Nicholas FW, Lohi H, Leeb T, Zhang YP, Ostrander EA. Genome Biology.

Feline litter box issues associate with cat personality, breed, and age at sterilization.
Mikkola S, Salonen M, Hakanen E, Lohi H. Journal of the American Veterinary Medical Association.

Risk of Midlife Stroke After Adverse Pregnancy Outcomes: The FinnGen Study.
Miller EC, Kauko A, Tom SE, Laivuori H, Niiranen T, Bello NA; FinnGen Investigators (including Tuomi T). Stroke.

Precision subclassification of type 2 diabetes: a systematic review.
Misra S, Wagner R, Ozkan B, Schön M, Sevilla-Gonzalez M, Prystupa K, Wang CC, Kreienkamp RJ, Cromer SJ, Rooney MR, Duan D, Thuesen ACB, Wallace AS, Leong A, Deutsch AJ, Andersen MK, Billings LK, Eckel RH, Sheu WH, Hansen T, Stefan N, Goodarzi MO, Ray D, Selvin E, Florez JC; ADA/EASD PMDI (including Tuomi T); Meigs JB, Udler MS. Communications Medicine.

A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy.
Mohassel P, Yun P, Syeda S, Batra A, Bradley AJ, Donkervoort S, Monges S, Cohen JS, Leung DG, Munell F, Ortez C, Sánchez-Montáñez A, Karachunski P, Brandsema J, Medne L, Chaudhry V, Tasca G, Foley AR, Udd B, Arai AE, Walter GA, Bönnemann CG. Annals of Clinical and Translational Neurology.

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.
Montanucci L, Lewis-Smith D, Collins RL, Niestroj LM, Parthasarathy S, Xian J, Ganesan S, Macnee M, Brünger T, Thomas RH, Talkowski M; Epi25 Collaborative (including Lehesjoki A-E); Helbig I, Leu C, Lal D. Nature Communications.

The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion.
Murphy R, Colclough K, Pollin TI, Ikle JM, Svalastoga P, Maloney KA, Saint-Martin C, Molnes J; ADA/EASD PMDI (including Tuomi T); Misra S, Aukrust I, de Franco E, Flanagan SE, Njølstad PR, Billings LK, Owen KR, Gloyn AL. Communications Medicine.

An atlas of genetic determinants of forearm fracture.
Nethander M, Movérare-Skrtic S, Kämpe A, Coward E, Reimann E, Grahnemo L, Borbély É, Helyes Z, Funck-Brentano T, Cohen-Solal M, Tuukkanen J, Koskela A, Wu J, Li L, Lu T, Gabrielsen ME; Estonian Biobank Research Team; Mägi R, Hoff M, Lerner UH, Henning P, Ullum H, Erikstrup C, Brunak S; DBDS Genomic Consortium; Langhammer A, Tuomi T, Oddsson A, Stefansson K, Pettersson-Kymmer U, Ostrowski SR, Pedersen OBV, Styrkarsdottir U, Mäkitie O, Hveem K, Richards JB, Ohlsson C. Nature Genetics.

Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human.
Niskanen JE, Ohlsson Å, Ljungvall I, Drögemüller M, Ernst RF, Dooijes D, van Deutekom HWM, van Tintelen JP, Snijders Blok CJB, van Vugt M, van Setten J, Asselbergs FW, Petrič AD, Salonen M, Hundi S, Hörtenhuber M; DoGA consortium; Kere J, Pyle WG, Donner J, Postma AV, Leeb T, Andersson G, Hytönen MK, Häggström J, Wiberg M, Friederich J, Eberhard J, Harakalova M, van Steenbeek FG, Wess G, Lohi H. Genome Medicine.

The metabolic differences of anestrus, heat, pregnancy, pseudopregnancy, and lactation in 800 female dogs.
Ottka C, Vapalahti K, Arlt SP, Bartel A, Lohi H. Frontiers in Veterinary Science.

The relationship between FGF23 and body composition according to albuminuria stage in type 1 diabetes. 
Parente EB, Ahola AJ, Kumar A, Lehto M, Groop P-H, on behalf of the FinnDiane Study Group. Diabetes Research and Clinical Practice.

Relationship Between Abdominal Fatness and Onset and Progression of Albuminuria in Type 1 Diabetes. 
Parente EB, Mutter S, Thorn LM, Harjutsalo V, Groop P-H. Diabetes Care.

Renewing the fight: A call to action for diabetes ads chronic kidney disease.
Pecoits-Filho R, Yanez Jimenez B, Ashuntantang GE, de Giorgi F, De Cosmo S, Groop P-H, Liew A, Hradsky A, Pontremoli R, Sola L, Ceriello A. Diabetes Research and Clinical Practice.

Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report.
Pelin K, Sagath L, Lehtonen J, Kiiski K, Tynninen O, Paetau A, Johari M, Savarese M, Wallgren-Pettersson C, Lehtokari VL. Journal of Neuromuscular Diseases.

Shorter birth length and decreased T-cell production and function predict severe infections in children with non-severe combined immunodeficiency cartilage-hair hypoplasia.
Pello E, Kainulainen L, Vakkilainen M, Klemetti P, Taskinen M, Mäkitie O, Vakkilainen S. Journal of Allergy and Clinical Immunology: Global.

A retrospective study of accuracy and usefulness of electrophysiological exercise tests.
Periviita V, Jokela M, Palmio J, Udd B. Journal of Neurology.

CACNA1S Variant Associated With a Myalgic Myopathy Phenotype.
Periviita V, Palmio J, Jokela M, Hartikainen P, Vihola A, Rauramaa T, Udd B. Neurology.

Titin copy number variations associated with dominant inherited phenotypes.
Perrin A, Métay C, Savarese M, Ben Yaou R, Demidov G, Nelson I, Solé G, Péréon Y, Bertini ES, Fattori F, D'Amico A, Ricci F, Ginsberg M, Seferian A, Boespflug-Tanguy O, Servais L, Chapon F, Lagrange E, Gaudon K, Bloch A, Ghanem R, Guyant-Maréchal L, Johari M, Van Goethem C, Fardeau M, Morales RJ, Genetti CA, Marttila M, Koenig M, Beggs AH, Udd B, Bonne G, Cossée M. Journal of Medical Genetics.

SGMS2 in primary osteoporosis with facial nerve palsy.
Pihlström S, Richardt S, Määttä K, Pekkinen M, Olkkonen VM, Mäkitie O, Mäkitie RE. Frontiers in Endocrinology.

Long-chain polyphosphates inhibit type I interferon signaling and augment LPS-induced cytokine secretion in human leukocytes.
Pirttiniemi A, Adeshara K, Happonen N, Einarsdottir E, Katayama S, Salmenkari H, Hörkkö S, Kere J, Groop PH, Lehto M. Journal of Leukocyte Biology.

In depth behavioral phenotyping unravels complex motor disturbances in Cstb-/- mouse, a model for progressive myoclonus epilepsy type 1.
Pollari E, Tegelberg S, Björklund H, Kälviäinen R, Lehesjoki A-E, Haapalinna A. Frontiers in Behavioral Neuroscience.

Alkaline Phosphatase and Hyperphosphatasemia in Vitamin D Trial in Healthy Infants and Toddlers.
Pontán F, Hauta-Alus H, Valkama S, Rosendahl J, Enlund-Cerullo M, Andersson S, Mäkitie O, Holmlund-Suila E. The Journal of Clinical Endocrinology & Metabolism.

Mitochondrial complex III deficiency drives c-MYC overexpression and illicit cell cycle entry leading to senescence and segmental progeria.
Purhonen J, Banerjee R, Wanne V, Sipari N, Mörgelin M, Fellman V, Kallijärvi J. Nature Communications.

Quantification of all 12 canonical ribonucleotides by real-time fluorogenic in vitro transcription.
Purhonen J, Hofer A, Kallijärvi J. Nucleic Acids Research.

MYC – an emerging player in mitochondrial diseases.
Purhonen J, Klefström J, Kallijärvi J. Frontiers In Cell And Developmental Biology.

Functional assay for assessment of pathogenicity of BAP1 variants.
Repo PE, Backlund MP, Kivelä TT, Turunen JA. Human Molecular Genetics.

Evaluation of intervertebral disc degeneration in young adult asymptomatic Dachshunds with magnetic resonance imaging and radiography.
Reunanen VLJ, Jokinen TS, Hytönen MK, Junnila JJT, Lappalainen AK. Acta Veterinaria Scandinavica.

Overlap of Genetic Loci for Central Serous Chorioretinopathy With Age-Related Macular Degeneration.
Rämö JT, Abner E, van Dijk EHC, Wang X, Brinks J, Nikopensius T, Nõukas M, Marjonen H, Silander K, Jukarainen S, Kiiskinen T, Choi SH, Kajanne R, Mehtonen J, Palta P, Lubitz SA, Kaarniranta K, Sobrin L, Kurki M, Yzer S, Ellinor PT, Esko T, Daly MJ, den Hollander AI, Palotie A, Turunen JA, Boon CJF, Rossin EJ; FinnGen Study; Estonian Biobank Research Team. JAMA Ophthalmology.

Breed, age, and social environment are associated with personality traits in dogs.
Salonen M, Mikkola S, Niskanen JE, Hakanen E, Sulkama S, Puurunen J, Lohi H. iScience.

Effect of Vitamin D3 Supplementation in the First 2 Years of Life on Psychiatric Symptoms at Ages 6 to 8 Years: A Randomized Clinical Trial.
Sandboge S, Räikkönen K, Lahti-Pulkkinen M, Hauta-Alus H, Holmlund-Suila E, Girchenko P, Kajantie E, Mäkitie O, Andersson S, Heinonen K. The JAMA Network Open.

Genetic and epigenetic background of diabetic kidney disease.
Sandholm N, Dahlström EH, Groop PH. Frontiers in Endocrinology.

Rate of Kidney Function Decline is Associated With Kidney and Heart Failure in Individuals With Type 1 Diabetes.
Sandholm N, Valo E, Tuomilehto J, Harjutsalo V, Groop PH, FinnDiane Study. Kidney International Reports.

Extension of the DNAJB2a isoform in a dominant neuromyopathy family.
Sarparanta J, Jonson PH, Reimann J, Vihola A, Luque H, Penttilä S, Johari M, Savarese M, Hackman P, Kornblum C, Udd B. Human Molecular Genetics.

Iäkkään henkilön tyypin 2 diabeteksen kokonaisvaltainen hoito.
Satuli-Autere S, Hägg-Holmberg S, Thorn L. Duodecim.

Report from the CVOT Summit 2022: new cardiovascular, kidney, and glycemic outcomes.
Schnell O, Battelino T, Bergenstal R, Birkenfeld AL, Ceriello A, Cheng A, Davies M, Edelman S, Evans M, Forst T, Giorgino F, Green J, Groop P-H, Hadjadj S, Heerspink HJL, Hompesch M, Izthak B, Ji L, Kanumilli N, Mankovsky B, Mathieu C, Miszon M, Mustafa R, Nauck M, Pecoits-Filho R, Pettus J, Ranta K, Rodbard HW, Rossing P, Ryden L, Schumm-Drager P-M, Solomon SD, Skrha J, Topsever P, Vilsböll T, Wilding J, Standl E. Cardiovascular Diabetology.

Genotype-stratified treatment for monogenic insulin resistance: a systematic review.
Semple RK, Patel KA, Auh S; ADA/EASD PMDI (including Tuomi T); Brown RJ. Communications Medicine.

Distinct healthy and atopic canine gut microbiota is influenced by diet and antibiotics.
Sinkko H, Lehtimäki J, Lohi H, Ruokolainen L, Hielm-Björkman A. Royal Society Open Science.

Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata.
Sliz E, Tyrmi JS, Rahmioglu N, Zondervan KT, Becker CM; FinnGen (including Tuomi T); Uimari O, Kettunen J. Nature Communications.

Antibiotic treatment using amoxicillin-clavulanic acid impairs gut mycobiota development through modification of the bacterial ecosystem.
Spatz M, Da Costa G, Ventin-Holmberg R, Planchais J, Michaudel C, Wang Y, Danne C, Lapiere A, Michel ML, Kolho KL, Langella P, Sokol H, Richard ML. Microbiome.

Chronic kidney disease in type 1 diabetes: translation of novel type 2 diabetes therapeutics to individuals with type 1 diabetes.
Sridhar VS, Limonte CP, Groop PH, Heerspink HJL, Pratley RE, Rossing P, Skyler JS, Cherney DZI. Diabetologia.

Multiocular defect in the Old English Sheepdog: A canine form of Stickler syndrome type II associated with a missense variant in the collagen-type gene COL11A1.
Stanbury K, Stavinohova R, Pettitt L, Dixon C, Schofield EC, Mclaughlin B, Pettinen I, Lohi H, Ricketts SL, Oliver JA, Mellersh CS. PLoS One.

Pet and owner personality and mental wellbeing associate with attachment to cats and dogs.
Ståhl A, Salonen M, Hakanen E, Mikkola S, Sulkama S, Lahti J, Lohi H. iScience.

Enzymatic assay for UDP-GlcNAc and its application in the parallel assessment of substrate availability and protein O-GlcNAcylation.
Sunden M, Upadhyay D, Banerjee R, Sipari N, Fellman V, Kallijärvi J, Purhonen J. Cell Reports Methods.

Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking.
Swan AH, Schindler RFR, Savarese M, Mayer I, Rinné S, Bleser F, Schänzer A, Hahn A, Sabatelli M, Perna F, Chapman K, Pfuhl M, Spivey AC, Decher N, Udd B, Tasca G, Brand T. Acta Neuropathologica Communications.

Atrophy of the optic chiasm is associated with microvascular diabetic complications in type 1 diabetes.
Tarkkonen A, Claesson TB, Eriksson MI, Forsblom C, Thorn LM, Summanen P, Groop PH, Putaala J, Gordin D, Martola J. Frontiers in Endocrinology.

Retinal artery to vein ratio is associated with Cerebral Microbleeds in Individuals with Type 1 Diabetes.
Tarkkonen A, Fickweiler W, Eriksson M, Sun KJ, Thorn LM, Summanen P, Groop P-H, Putaala J, Martola J, Gordin D, on behalf of the FinnDiane Study. Journal of Hypertension.

Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine.
Tobias DK, Merino J, Ahmad A, Aiken C, Benham JL, Bodhini D, Clark AL, Colclough K, Corcoy R, Cromer SJ, Duan D, Felton JL, Francis EC, Gillard P, Gingras V, Gaillard R, Haider E, Hughes A, Ikle JM, Jacobsen LM, Kahkoska AR, Kettunen JLT, Kreienkamp RJ, Lim LL, Männistö JME, Massey R, Mclennan NM, Miller RG, Morieri ML, Most J, Naylor RN, Ozkan B, Patel KA, Pilla SJ, Prystupa K, Raghavan S, Rooney MR, Schön M, Semnani-Azad Z, Sevilla-Gonzalez M, Svalastoga P, Takele WW, Tam CH, Thuesen ACB, Tosur M, Wallace AS, Wang CC, Wong JJ, Yamamoto JM, Young K, Amouyal C, Andersen MK, Bonham MP, Chen M, Cheng F, Chikowore T, Chivers SC, Clemmensen C, Dabelea D, Dawed AY, Deutsch AJ, Dickens LT, DiMeglio LA, Dudenhöffer-Pfeifer M, Evans-Molina C, Fernández-Balsells MM, Fitipaldi H, Fitzpatrick SL, Gitelman SE, Goodarzi MO, Grieger JA, Guasch-Ferré M, Habibi N, Hansen T, Huang C, Harris-Kawano A, Ismail HM, Hoag B, Johnson RK, Jones AG, Koivula RW, Leong A, Leung GKW, Libman IM, Liu K, Long SA, Lowe WL Jr, Morton RW, Motala AA, Onengut-Gumuscu S, Pankow JS, Pathirana M, Pazmino S, Perez D, Petrie JR, Powe CE, Quinteros A, Jain R, Ray D, Ried-Larsen M, Saeed Z, Santhakumar V, Kanbour S, Sarkar S, Monaco GSF, Scholtens DM, Selvin E, Sheu WH, Speake C, Stanislawski MA, Steenackers N, Steck AK, Stefan N, Støy J, Taylor R, Tye SC, Ukke GG, Urazbayeva M, Van der Schueren B, Vatier C, Wentworth JM, Hannah W, White SL, Yu G, Zhang Y, Zhou SJ, Beltrand J, Polak M, Aukrust I, de Franco E, Flanagan SE, Maloney KA, McGovern A, Molnes J, Nakabuye M, Njølstad PR, Pomares-Millan H, Provenzano M, Saint-Martin C, Zhang C, Zhu Y, Auh S, de Souza R, Fawcett AJ, Gruber C, Mekonnen EG, Mixter E, Sherifali D, Eckel RH, Nolan JJ, Philipson LH, Brown RJ, Billings LK, Boyle K, Costacou T, Dennis JM, Florez JC, Gloyn AL, Gomez MF, Gottlieb PA, Greeley SAW, Griffin K, Hattersley AT, Hirsch IB, Hivert MF, Hood KK, Josefson JL, Kwak SH, Laffel LM, Lim SS, Loos RJF, Ma RCW, Mathieu C, Mathioudakis N, Meigs JB, Misra S, Mohan V, Murphy R, Oram R, Owen KR, Ozanne SE, Pearson ER, Perng W, Pollin TI, Pop-Busui R, Pratley RE, Redman LM, Redondo MJ, Reynolds RM, Semple RK, Sherr JL, Sims EK, Sweeting A, Tuomi T, Udler MS, Vesco KK, Vilsbøll T, Wagner R, Rich SS, Franks PW. Nature Medicine.

Pubertal development and hypogonadism in males with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: a retrospective study.
Träskilä E, Holopainen E, Mäyränpää MI, Toppari J, Mäkitie O, Laakso S. European Journal of Endocrinology.

Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae.
Tuovinen EA, Kuismin O, Soikkonen L, Martelius T, Kaustio M, Hämäläinen S, Viskari H, Syrjänen J, Wartiovaara-Kautto U, Eklund KK, Saarela J, Varjosalo M, Kere J, Hautala T, Seppänen MRJ. Clinical Immunology.

Characterization of Expanded Gamma Delta T Cells from Atypical X-SCID Patient Reveals Preserved Function and IL2RG-Mediated Signaling.
Tuovinen EA, Pöysti S, Hamdan F, Le KM, Keskitalo S, Turunen T, Minier L, Mamia N, Heiskanen K, Varjosalo M, Cerullo V, Kere J, Seppänen MRJ, Hänninen A, Grönholm J. Journal of Clinical Immunology.

Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish-Swedish ancestry.
Turunen JA, Tuisku IS, Repo P, Mörtenhumer S, Kawan S, Järvinen RS, Korsbäck A, Immonen AT, Kivelä TT. Acta Ophthalmologica.

Higher HbA1c variability is associated with increased arterial stiffness in individuals with type 1 diabetes.
Tynjälä A, Harjutsalo V, Jansson Sigfrids F, Groop PH, Gordin D; FinnDiane Study Group. Cardiovascular Diabetology.

Genetic Risk Factors Associated With Preeclampsia and Hypertensive Disorders of Pregnancy.
Tyrmi JS, Kaartokallio T, Lokki AI, Jääskeläinen T, Kortelainen E, Ruotsalainen S, Karjalainen J, Ripatti S, Kivioja A, Laisk T, Kettunen J, Pouta A, Kivinen K, Kajantie E, Heinonen S, Kere J, Laivuori H; FINNPEC Study Group, FinnGen Project, and the Estonian Biobank Research Team. JAMA Cardiology.

Data Resource Profile: Nationwide registry data for high-throughput epidemiology and machine learning (FinRegistry).
Viippola E, Kuitunen S, Rodosthenous RS, Vabalas A, Hartonen T, Vartiainen P, Demmler J, Vuorinen AL, Liu A, Havulinna AS, Llorens V, Detrois KE, Wang F, Ferro M, Karvanen A, German J, Jukarainen S, Gracia-Tabuenca J, Hiekkalinna T, Koskelainen S, Kiiskinen T, Lahtela E, Lemmelä S, Paajanen T, Siirtola H, Reeve MP, Kristiansson K, Brunfeldt M, Aavikko M, Gen F, Perola M, Ganna A; FinnGen (including Tuomi T.). International Journal of Epidemiology.

Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.
Wallgren-Pettersson C, Jokela M, Lehtokari VL, Tyynismaa H, Sainio MT, Ylikallio E, Tynninen O, Pelin K, Auranen M. Neuromuscular Disorders.

All-Cause Mortality and Cardiovascular and Microvascular Diseases in Latent Autoimmune Diabetes in Adults.
Wei Y, Herzog K, Ahlqvist E, Andersson T, Nyström T, Zhan Y, Tuomi T, Carlsson S. Diabetes Care.

Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake.
Williamson A, Norris DM, Yin X, Broadaway KA, Moxley AH, Vadlamudi S, Wilson EP, Jackson AU, Ahuja V, Andersen MK, Arzumanyan Z, Bonnycastle LL, Bornstein SR, Bretschneider MP, Buchanan TA, Chang YC, Chuang LM, Chung RH, Clausen TD, Damm P, Delgado GE, de Mello VD, Dupuis J, Dwivedi OP, Erdos MR, Fernandes Silva L, Frayling TM, Gieger C, Goodarzi MO, Guo X, Gustafsson S, Hakaste L, Hammar U, Hatem G, Herrmann S, Højlund K, Horn K, Hsueh WA, Hung YJ, Hwu CM, Jonsson A, Kårhus LL, Kleber ME, Kovacs P, Lakka TA, Lauzon M, Lee IT, Lindgren CM, Lindström J, Linneberg A, Liu CT, Luan J, Aly DM, Mathiesen E, Moissl AP, Morris AP, Narisu N, Perakakis N, Peters A, Prasad RB, Rodionov RN, Roll K, Rundsten CF, Sarnowski C, Savonen K, Scholz M, Sharma S, Stinson SE, Suleman S, Tan J, Taylor KD, Uusitupa M, Vistisen D, Witte DR, Walther R, Wu P, Xiang AH, Zethelius B; Meta-Analysis of Glucose and Insulin-related Traits Consortium (MAGIC); Ahlqvist E, Bergman RN, Chen YI, Collins FS, Fall T, Florez JC, Fritsche A, Grallert H, Groop L, Hansen T, Koistinen HA, Komulainen P, Laakso M, Lind L, Loeffler M, März W, Meigs JB, Raffel LJ, Rauramaa R, Rotter JI, Schwarz PEH, Stumvoll M, Sundström J, Tönjes A, Tuomi T, Tuomilehto J, Wagner R, Barroso I, Walker M, Grarup N, Boehnke M, Wareham NJ, Mohlke KL, Wheeler E, O'Rahilly S, Fazakerley DJ, Langenberg C. Nature Genetics.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.
Yaldiz B, Kucuk E, Hampstead J, Hofste T, Pfundt R, Corominas Galbany J, Rinne T, Yntema HG, Hoischen A, Nelen M, Gilissen C; Solve-RD consortium. Human Genomics.

Transcriptomic differences between human 8-cell-like cells reprogrammed with different methods.
Yoshihara M, Kere J. Stem Cell Reports.

The Continued Absence of Functional Germline Stem Cells in Adult Ovaries.
Yoshihara M, Wagner M, Damdimopoulos A, Zhao C, Petropoulos S, Katayama S, Kere J, Lanner F, Damdimopoulou P. Stem Cells.

Treatment effect heterogeneity following type 2 diabetes treatment with GLP1-receptor agonists and SGLT2-inhibitors: a systematic review.
Young KG, McInnes EH, Massey RJ, Kahkoska AR, Pilla SJ, Raghavan S, Stanislawski MA, Tobias DK, McGovern AP, Dawed AY, Jones AG, Pearson ER, Dennis JM; ADA/EASD PDMI (including Tuomi T). Communications Medicine.

Major Genetic Risk Factors for Dupuytren's Disease Are Inherited From Neandertals.
Ågren R, Patil S, Zhou X, FinnGen (including Tuomi T.), Sahlholm K, Pääbo S, Zeberg H. Molecular Biology and Evolution.

Progression and regression of kidney disease in type 1 diabetes.
Jansson Sigfrids F, Groop P-H. Frontiers in Nephrology.

Distal myopathy.
Savarese M, Jokela M, Udd B. Handbook of Clinical Neurology.