Genetics Publications 2025

Soluble RAGE further stratifies risk of coronary artery and end-stage kidney disease in high-risk individuals with type 1 diabetes and treatment-resistant hypertension.
Adeshara K, Lithovius R, Mutter S, Harjutsalo V, Lehto M, Groop P-H, Sandholm N, on behalf of the FinnDiane Study Group. Cardiovascular Diabetology. 

Relationship between soluble receptor for advanced glycation end products (sRAGE) and obesity in individuals with type 1 diabetes during a median follow-up of 6.3 years.
Adeshara K, Parente EB, Harjutsalo V, Lehto M, Sandholm N, Groop P-H, on behalf of the FinnDiane Study Group. Diabetologia. 

Prevalence and prognostic importance of chronic kidney disease in patients with coronary aheart disease. Results from the combined database of EUROASPIRE IV and V studies. 
Al-Azzawy SM, Coyle M, McEvoy B, Jennings C, Kotseva K, Mellbin L, Rydén L, Wood D, De Bacquer D, Groop P-H. European Journal of Preventive Cardiology. 

Preterm birth and risk of bone fractures during childhood and early adulthood. 
Alenius S, Miettinen ME, Nurhonen M, Salmi S, Näsänen-Gilmore P, Haaramo P, Tikanmäki M, Vääräsmäki M, Gissler M, Mäkitie O, Hovi P, Kajantie E. Journal of Bone and Mineral Research. 

Fetal programming of early-onset type 2 diabetes: a Swedish nationwide cohort and sibling analysis. 
Amadou C, Wei Y, Tuomi T, Feychting M, Carlsson S. European Journal of Epidemiology. 

Dental and craniofacial manifestations in sponastrime dysplasia - An observational study. 
Arponen H, Valta H, Mäkitie O. Bone. 

Long-read sequencing uncovers novel pathogenic duplications in the PRPH2 gene in patients with macular dystrophy. 
Backlund MP, Gasparian SA, Repo PE, Kangas H, Donner K, Putkuri H, Seitsonen S, Paavo M, Kivelä TT, Sierpina DI, Turunen JA. Ophthalmic Genetics. 

Selected miRNAs in Urinary Extracellular Vesicles Show Promise for Early and Specific Diagnostics of Diabetic Kidney Disease. 
Barreiro K, Karttunen J, Valo E, Viippola E, Quintero I, Käräjämäki A, Rannikko A, Holthöfer H, Ganna A, Sandholm N, Thorn LM, Groop PH, Tuomi T, Dwivedi OP, Puhka M. Journal of Extracellular Biology. 

Measures of Homozygosity and Relationship to Genetic Diversity in the Bearded Collie Breed. 
Belanger JM, Gershony LC, Bell JS, Hytönen MK, Lohi H, Lindblad-Toh K, Tengvall K, Sell E, Famula TR, Oberbauer AM. Genes. 

Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy. 
Bennett MF, Corbett MA, Kroes T, Canafoglia L, Oliver KL, Cameron JM, Sikta N, Munro J, Fearnley LG, Ibanez K, Tucci A, Sisodiya SM, Hildebrand MS, Scheffer IE, Courage C, Lehesjoki A-E, Giuliano L, Didato G, Franceschetti S, Gecz J, Berkovic SF, Bahlo M. Brain Communications. 

Cumulative exposures to glycaemia and lipids are associated with coronary artery disease in type 1 diabetes: a call for action. 
Bergdal R, Harjutsalo V, Groop P-H, Mutter S. Cardiovascular Diabetology. 

Increased risk of vertebral fractures and reduced risk of femur fractures in patients with chronic hypoparathyroidism: a nationwide cohort study in Sweden. 
Björnsdottir S, Kamal W, Mannstadt M, Mäkitie O, Spelman T, Kämpe O, Langdahl BL. Journal of bone and mineral research. 

Oxygen level alters energy metabolism in bovine preimplantation embryos. 
Boskovic N, Ivask M, Yazgeldi Gunaydin G, Yaşar B, Katayama S, Salumets A, Org T, Kurg A, Lundin K, Tuuri T, Daub CO, Kere J. Scientific Reports. 

Desmoplakin-associated palmoplantar epidermal differentiation disorder: a distinct phenotype and red flag for cardiomyopathy. 
Brandt E, Heliö K, Harjama L, Weckström S, Elomaa O, Kettunen K, Lappalainen K, Sjöblom N, Holmström M, Ojala T, Kere J, Heliö T, Hannula-Jouppi K. Clinical and Experimental Dermatology.

SERPINB8-associated peeling skin with palmoplantar keratoderma – A new variant and phenotypic expansion. 
Brandt E, Kettunen K, Elomaa O, Kivirikko S, Sjöblom N, Kere J, Hannula-Jouppi K, Harjama L. Journal of European Academy of Dermatology and Venereology. 

Analysis of canine gene constraint identifies new variants for orofacial clefts and stature. 
Buckley RM, Bilgen N, Harris AC, Savolainen P, Tepeli C, Erdoğan M, Serres Armero A, Dreger DL, van Steenbeek FG, Hytönen MK, Parker HG, Hale J, Lohi H, Çınar Kul B, Boyko AR, Ostrander EA. Genome Research. 

Age at type 1 diabetes onset does not influence attained brain volume.
Claesson T, Mutter S, Putaala J, Salli E, Gordin D, Groop P-H, Martola J, Thorn LM. BMC Endocrine Disorders. 

Genome-wide association study of quantitative kidney function in 52,531 individuals with diabetes identifies five diabetes-specific loci. 
Cole J, Dahlström EH, Fermin D, Gupta Y, Hill C, Smyth LJ, Liu H, Kreienkamp RJ, Pezzolesi MG, Cao JJ, Valo E, Chen W-M, Onengut-Gumuscu S, Rich SS, Brennan EP, Andrews D, Kennedy C, Gu HF, Stechemesser L, Weitgasser R, Sokolovska J, Radzeviciene L, Verkauskiene R, Panduru NM, Rossing P, Ahluwalia TS, Zerbini G, Marre M, Hadjadj S, DCCT/EDIC Research Group, Costacou T, Miller RG, Klein BE, Lee KE, Snell-Bergeon JK, Caramori ML, Mauer M, Brismar K, Bjornstad P, McKnight AJ, McKay G, Nair V, Salem RM, Groop P-H, Godson C, Susztak K, Kretzler M, Maxwell AP, Krolewski A, Paterson A, Sandholm-Laferre N, Florez JC, Hirschhorn JN. Journal of the American Society of Nephrology. 

Loss-of-function variants in SPTAN1 and SPTBN4 cause early-onset hereditary myopathy. 
De Winter J, Palmio J, Schuelke M, Udd B, Stenzel W, Baets J. The Journal of Physiology. 

Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy. 
De Winter J, Van de Vondel L, Ermanoska B, Monticelli A, Isapof A, Cohen E, Stojkovic T, Hackman P, Johari M, Palmio J, Waldrop MA, Meyer AP, Nicolau S, Flanigan KM, Töpf A, Diaz-Manera J, Straub V, Longman C, McWilliam CA, Orbach R, Verma S, Laine R, Donkervoort S, Bonnemann CG, Rebelo A, Züchner S, Grider T, Shy ME, Maystadt I, Demurger F, Cairns A, Beecroft S, Folland C, De Ridder W, Ravenscroft G, Bonne G, Udd B, Baets J. Genetics in Medicine. 

The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations. 
Di Feo MF, Paramonov I, Borrel LM, Töpf A, Hoischen A, Beltran S, Graessner H, Vissers L, de Voer R, van Gijn M, Balestrini S, Lerche H, Lesca G, Gayathri SN, Ellwanger K, Cossee M, Perrin A, Sarkozy A, Bonne G, Verdonschot JAJ, Demidov G, Laurie S, Johari M; Solve-RD consortium; Hackman P, Savarese M, Udd B. Genetics in Medicine. http://doi.org/10.1016/j.gim.2025.101649
GWAS and Replication Analysis of Apparent Treatment-Resistant Hypertension. 
Ebinger JE, Kauko A, Vaura F, Hage P, Sundström J, Joung SY, Cheng S, Niiranen T; FinnGen. Hypertension. 

Narcolepsy as a potential risk factor for Schizophrenia. 
Eghtedarian R, Tervi AM, Jones SE; FinnGen; Partinen M, Viippola E, Ollila HM. Translational Psychiatry. 

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease. 
Estévez-Arias B, Sarv S, Bonello-Palot N, Carrera-García L, Ortez C, Expósito-Escudero J, Yubero D, Muchart J, Delmont E, Õiglane-Shlik E, Meren T, Puusepp S, Murumets Ü, Salomons GS, Udd B, Väli L, Cantarero L, Bönnemann CG, Nascimento A, Ramón-Maiques S, Õunap K, Hoenicka J, Natera-de Benito D, Palau F. Annals of Neurology. 

Characteristics of above 65-year-olds with type 1 diabetes in the Finnish Diabetic Nephropathy Study. 
Franzén EMC, Eriksson MI, Satuli-Autere S, Ylinen A, Jansson Sigfrids F, Nicklén J, Öhman H, Groop PH, Thorn LM; FinnDiane Study Group. Acta Diabetologica. 

Myosin inhibition partially rescues the myofiber proteome in X-linked myotubular myopathy. 
Gerlach Melhedegaard E, Rostedt F, Gineste C, Seaborne RA, Dugdale HF, Belhac V, Zanoteli E, Lawlor MW, Mack DL, Wallgren-Pettersson C, Hessel AL, Jungbluth H, Laporte J, Saito Y, Nishino I, Ochala J, Laitila J. JCI Insight.

Different Lower Limb Muscle MRI Patterns in Autosomal Dominant Titinopathies. 
Gómez-Andrés D, Costa-Comellas L, Díaz-Manera J, Õunap K, Álvarez-Molinero M, Urcuyo G, Savarese M, Munell F, Udd B. European Journal of Neurology.

Participant characteristics in the effectiveness of lifestyle interventions to optimize gestational weight gain: a systematic review and meta-analysis. 
Grieger JA, Takele WW, Vesco KK, Redman LM, Hannah W, Bonham MP, Chen M, Chivers SC, Fawcett AJ, Habibi N, Liu K, Mekonnen EG, Pathirana M, Quinteros A, Taylor R, Ukke GG, Zhou SJ; ADA/EASD PMDI; Josefson J, Lim S. Communications Medicine.

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database. 
Gudmundsson S, Singer-Berk M, Stenton SL, Goodrich JK, Wilson MW, Einson J, Watts NA; Genome Aggregation Database Consortium; Lappalainen T, Rehm HL, MacArthur DG, O'Donnell-Luria A. Nature Communications. 

Exploring the Role of Apolipoprotein ε4 in Progressive Myoclonic Epilepsy Type 1.
Gunnar J, Liu Y, Eronen H, Joensuu T, Äikiä M, Hyppönen J, Silvennoinen K, Mervaala E, Hakumäki J, Lehesjoki A-E, Kälviäinen R. Epileptic Disorders.

Frailty outperforms conventional risk factors for predicting complications and death in type 1 diabetes. 
Haapanen MJ, Jansson Sigfrids F, Ylinen A, Satuli-Autere S, Nicklén J, Groop PH, Harjutsalo V, Thorn LM. Diabetes Research and Clinical Practice.

Salih Myopathy. 2012 Jan 12 [updated 2025 Apr 3].
Hackman P, Savarese M, Di Feo MF, Udd B, Salih MA. Monograph. 

Sex-specific subcutaneous adipose tissue transcriptome in obesity: insights from monozygotic twin pairs discordant for BMI. 
Haltia H, Muniandy M, Heinonen S, Saari S, Alvarez M, Hakkarainen A, Lundbom J, Kuula J, Groop P-H, Kaprio J, Pajukanta P, Pietiläinen KH, van der Kolk BW. Obesity. 

Comparison of serum creatinine and cystatin C based eGFR at baseline and their prediction of incident moderate albuminuria in individuals with type 1 diabetes.
Harjutsalo V, Thorn LM, Groop P-H. Diabetes Care. 

Development of a cost-effective, multifunctional SNP panel and analysis workflow for Wolf monitoring in Finland. 
Harmoinen J, Valtonen M, Fischer D, Iso-Touru T, Åkesson M, Heikkinen AM, Holmala K, Kojola I, Salmela E, Hindrikson M, Saarma U, Lohi H, Kvist L, Aspi J, Johansson H. Scientific Reports. 

Twin pair analysis uncovers novel links between DNA methylation, mitochondrial DNA quantity and obesity. 
Heikkinen A, Esser VFC, Lundgren S, Lee SHT, Hakkarainen A, Lundbom J, Kuula J, Groop P-H, Heinonen S, Pajukanta P, Kaprio J, Pietiläinen KH, Li S, Ollikainen M. Nature Communications. 

Familial clustering of microvascular complications in offspring of parents with type 1 diabetes: a population-based study. 
Herrlin I, Jansson Sigfrids F, Sandholm-Laferre N, Thorn LM, Groop P-H, Harjutsalo V. eClinicalMedicine. 

Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy. 
Hildebrandt C, Genetti CA, Logvinenko T, Win W, Barraza-Flores P, Hayes LH, Rockowitz S, Lehtokari VL, Iannaccone ST, Darras BT, Topaloglu H, Wallgren-Pettersson C, Beggs AH. Neurology: Genetics. 

A feline model of human low-density lipoprotein receptor-related atherosclerosis.
Hytönen MK, Karkamo V, Hundi S, Airas N, Kaukonen M, Sukura A, Lyons LA, Anderson H, Kareinen I, Lohi H. Animal Genetics. 

IP3 receptor depletion in a spontaneous canine model of Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta. 
Hytönen MK, Rönkkö J, Hundi S, Jokinen TS, Suonto E, Teräväinen E, Donner J, La Rovere R, Bultynck G, Ylikallio E, Tyynismaa H, Lohi H. PLoS Genetics. 

Errors and Delays in Diagnosing Keratitis Fugax Hereditaria. 
Immonen AT, Kawan S, Backlund MP, Saaren-Seppälä H, Kivelä TT, Turunen JA. American Journal of Ophthalmology. 

No evidence from euglycaemic-hyperinsulinaemic clamp studies for greater insulin sensitivity in adults with type 1 diabetes using insulin pump versus multiple daily insulin injections-Post hoc meta-analysis. 
Januszewski AS, Snaith JR, Grzelka-Wozniak A, Simonsen JRA, Sachithanandan N, Ward GM, O'Neal DN, Gordin D, Thorn LM, Groop PH, Uruska AA, Zozulinska-Ziolkiewicz DA, Jenkins AJ, Greenfield JR. Diabetes, Obesity and Metabolism. 

Genome-wide association study of idiopathic epilepsy in the Italian Spinone dog breed. 
Jenkins CA, De Risio L, Lophatananon A, Lewis TW, Foster D, Johnson J, Lohi H, Mellersh CS, Ricketts SL. PLoS One. 

Role of oxysterol 4β-hydroxycholesterol and liver X receptor alleles in pre-eclampsia.
Kaartinen L, Jääskeläinen T, Sliz E, Yazgeldi Gunaydin G, Wedenoja S, Katayama S, Kajantie E, Rinne V, Heinonen S, Kere J, Merikallio H; Hannele Laivuori. Annals of Medicine. 

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. 

Insights into the vascular aging burden in young adults with embolic stroke of undetermined source. 
Kakaletsis N, Gordin D, Martinez-Majander N, Joutsi-Korhonen L, Salopuro T, Adeshara K, Sibolt G, Curtze S, Pirinen J, Soinne L, Sairanen T, Suihko S, Lehto M, Sinoisalo J, Tatlisumak T, Groop P-H, Putaala J. Journal of the Neurological Sciences. 

Heterozygous Korat cats with LDL receptor mutation are asymptomatic and normolipidemic. 
Karkamo V, Airas N, Kairento H, Nguyen SD, Jauhiainen M, Metso J, Grönthal T, Knuuttila A, Kareinen L, Hytönen MK, Lohi H, Öörni K, Kareinen I. Research in Veterinary Science. 

Impact of Preeclampsia Duration on Long-Term Cardiovascular Disease Risk.
Keitaanpää N, Tyrmi JS, Toivonen E, Huhtala H, Kivelä A, Heinonen S, Jääskeläinen T, Laivuori H; FINNPEC Core Investigator Group, FinnGen. Hypertension.

A deep intronic PHEX variant associated with X-linked hypophosphatemia in a Finnish family. 
Koponen L, Pekkinen M, Legebeke J, Muurinen M, Rusanen S, Hussain S, Wang F, Nevalainen PI, Mäkitie O. JBMR Plus. 

Joslin Kidney Panel of circulating proteins as precision medicine tool for ESKD risk discrimination and individualized treatment of diabetic kidney disease. 
Krolewski AS, Haukka JK, Dom ZIM, Curovic VR, Wu C, Morieri ML, Ihara K, Tye SC, Kobayashi H, Keum Y, Baskaran S, Mutter S, Theilade S, Satake E, Rashidi N, Harjutsalo V, Ahluwalia TS, Niewczas M, Fleming F, Pragnell M, Nelson RG, Bonventre JV, Groop P-H, Rossing P, Sandholm N, Galecki A, Doria A. Clinical Journal of the American Society of Nephrology. 

Characterization of novel CASQ1 variants in two families with unusual phenotypic features. 
Laarne M, Jokela M, Zhao F, Huovinen S, Kornblum C, Reimann J, Johari M, Vihola A, Sarparanta J, Udd B, Hackman P, Lehtokari VL, Pelin K. Journal of Neurology.

A homozygous single-nucleotide variant in TNNT1 abnormal troponinT isoform expression in a patient with severe nemaline myopathy: A case report. 
Laarne M, Oghabian A, Laitila J, Isohanni P, Tynninen O, Zhao F, Rostedt F, Sarparanta J, Sagath L, Lawlor MW, Wallgren-Pettersson C, Lehtokari VL, Pelin K. Journal of Neuromuscular Diseases. 

Pathogenic TNNT1 variants are associated with aberrant thin filament compliance and myofibre hyper-contractility. 
Laitila J, Lewis CTA, Hessel AL, Primiano G, Fiorillo C, Hernandez-Lain A, Lawlor MW, Ottenheijm CAC, Jungbluth H, Man K, Fornili A, Ochala J. Journal of Physiology. 

Alcohol consumption, genetic susceptibility, and risk of latent autoimmune diabetes in adults and type 2 diabetes: Findings from two population-based studies. 
Lampousi AM, Ahlqvist E, Alfredsson L, Edstorp J, Di Giuseppe D, Grill V, Löfvenborg JE, Padyukov L, Tuomi T, Åsvold BO, Carlsson S. Clinical Nutrition.

Ketogenic diet influences the renin-angiotensin-aldosterone system components in the healthy and inflamed intestine of male mice. 
Launonen, H, Toivio L, Linden J, Salmenkari H, Korpela R. Journal of Nutritional Biochemistry.

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer AK, Demidov G, Ellwanger K, Paramonov I, Thomas C, Aretz S, Baets J, Benetti E, Bullich G, Chinnery PF, Clayton-Smith J, Cohen E, Danis D, de Sainte Agathe JM, Denommé-Pichon AS, Diaz-Manera J, Efthymiou S, Faivre L, Fernandez-Callejo M, Freeberg M, Garcia-Pelaez J, Guillot-Noel L, Haack TB, Hanna M, Hengel H, Horvath R, Houlden H, Jackson A, Johansson L, Johari M, Kamsteeg EJ, Kellner M, Kleefstra T, Lacombe D, Lochmüller H, López-Martín E, Macaya A, Marcé-Grau A, Maver A, Morsy H, Muntoni F, Musacchia F, Nelson I, Nigro V, Olimpio C, Oliveira C, Paulasová Schwabová J, Pauly MG, Peterlin B, Peters S, Pfundt R, Piluso G, Piscia D, Posada M, Reich S, Renieri A, Ryba L, Šablauskas K, Savarese M, Schöls L, Schütz L, Steinke-Lange V, Stevanin G, Straub V, Sturm M, Swertz MA, Tartaglia M, Te Paske IBAW, Thompson R, Torella A, Trainor C, Udd B, Van de Vondel L, van de Warrenburg B, van Reeuwijk J, Vandrovcova J, Vitobello A, Vos J, Vyhnálková E, Wijngaard R, Wilke C, William D, Xu J, Yaldiz B, Zalatnai L, Zurek B; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-EURO-NMD; Solve-RD DITF-RND; Solve-RD consortium; Brookes AJ, Evangelista T, Gilissen C, Graessner H, Hoogerbrugge N, Ossowski S, Riess O, Schüle R, Synofzik M, Verloes A, Matalonga L, Brunner HG, Lohmann K, de Voer RM, Töpf A, Vissers LELM, Beltran S, Hoischen A. Nature Medicine. 

Nutritional status of patients with nemaline myopathy and related congenital myopathies in Finland: A pilot study. 
Lehtokari VL, Similä M, Tammepuu M, Isohanni P, Auranen M, Hiekkala S, Wallgren-Pettersson C, Strang-Karlsson S. Journal of Neuromuscular Diseases. 

Dysregulated skeletal muscle myosin super-relaxation and energetics in male participants with type 2 diabetes mellitus. 
Lewis CTA, Moreno-Justicia R, Savoure L, Calvo E, Bak A, Laitila J, Seaborne RAE, Larsen S, Iwamoto H, Cefis M, Morais JA, Gouspillou G, Alegre-Cebollada J, Hawke TJ, Vazquez J, Adrover M, Marcangeli V, Hammad R, Granet J, Gaudreau P, Aubertin-Leheudre M, Bélanger M, Robitaille R, Deshmukh AS, Ochala J. Diabetelogia. 

Gene prioritisation for enhancing molecular diagnosis in rare skeletal muscle disease cohort. 
Lillback V, Bergant G, Di Feo MF, Bozović IB, Torella A, Johari M, Maver A, Pelin K, Santorelli FMM, Nigro V, Hackman P, Peterlin B, Udd B, Savarese M. Journal of Medical Genetics. 

Depression is associated with lower adherence to cardioprotective medications in adults with type 1 diabetes. 
Lithovius R, Mutter S, Parente EB, Harjutsalo V, Groop PH, Thorn LM, Sandholm N, on behalf of the FinnDiane Study Group. Acta Diabetologica.

Geenimetsällä parhaiden ystävien kanssa. Kissojen ja koirien geenitutkimus. 
Lohi H. The Finnish Society of Science and Letters, SPHINX 2024-2025.

Short Stature and Response to Growth Hormone Treatment in CUL3-Related Neurodevelopmental Disorder. 
Loid P, Närhi A, Hussain S, Muurinen M, Mäkitie O. Hormone Research in Peadiatrics.

Short stature, brachydactyly and joint contractures associated with novel FBN2 variants in two families. 
Loid P, Wang F, Lennartsson O, Muurinen M, Costantini A, Vats S, Lodefalk M, Nilsson O, Mäkitie O. Journal of Medical Genetics. 

Utilizing CRISPR-Cas13d-knockdown in zebrafish to study a rare monogenic bone fragility syndrome. 
Määttä K, Chen YC, Pihlström S, Mäkitie RE, Dambroise E, Legeai-Mallet L, Panula P, Mäkitie O, Pekkinen M. Journal of Bone and Mineral Research.

Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty. 
Mak JKL, Qin C, Krüger M, Kuukka A; FinnGen; Hägg S, Lin J, Jylhävä J. Nature Aging. 

A nonsense mutation in the PRKG2 gene in dalmatian dogs with chondrodysplasia.
Mäkeläinen S, Ekman S, Hytönen MK, Lohi H, Kyöstilä K, Simon T, Andersson G, Hedhammar Å, Hansson K, Bergström TF. PLoS One.

Nanodiamonds Interact With Primary Human Macrophages and Dendritic Cells Evoking a Vigorous Interferon Response. 
Malina T, Kaur J, Martin S, Gallud A, Katayama S, Gazzi A, Orecchioni M, Petr M, Šrejber M, Haag L, Hamawandi B, Toprak MS, Kere J, Delogu LG, Fadeel B. ACS Nano. 

Monoallelic TYROBP deletion is a novel risk factor for Alzheimer's disease. 
Martiskainen H, Willman RM, Harju P, Heikkinen S, Heiskanen M, Müller SA, Sinisalo R, Takalo M, Mäkinen P, Kuulasmaa T, Pekkala V, Galván Del Rey A, Juopperi SP, Jeskanen H, Kervinen I, Saastamoinen K; FinnGen; Niiranen M, Heikkinen SV, Kurki MI, Marttila J, Mäkinen PI, Rostalski H, Hietanen T, Ngandu T, Lehtisalo J, Bellenguez C, Lambert JC, Haass C, Rinne J, Hakumäki J, Rauramaa T, Krüger J, Soininen H, Haapasalo A, Lichtenthaler SF, Leinonen V, Solje E, Hiltunen M. Molecular Neurodegeneration. 

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia. 
Masson A, Paccaud J, Orefice M, Colin E, Mäkitie O, Cormier-Daire V, Relator R, Ghosh S, Strub JM, Schaeffer-Reiss C, Marcelis C, Koolen DA, Pfundt R, de Boer E, Vissers LE, Gardeitchik T, Aarts LA, Rinne T, Terhal PA, Verbeek NE, Zuurbier LC, Plomp AS, Wessels MW, de Man SA, Bouman A, Bird LM, Saadeh-Haddad R, Guillen Sacoto MJ, Person R, Gooch C, Hurst AC, Thompson ML, Hiatt SM, Littlejohn RO, Roeder ER, Mori M, Hickey SE, Hunter JM, Lee K, Osman K, Halloun R, Bachmann-Gagescu R, Rauch A, Wieczorek D, Platzer K, Luppe J, Duplomb-Jego L, El It F, Duffourd Y, Tran Mau-Them F, Huber C, Gordon CT, Taylan F, Mäkitie RE, Costantini A, Valta H, Robertson S, Poke G, Francoise M, Ciolfi A, Tartaglia M, Ekhilevitch N, Zaid R, Levy MA, Kerkhof J, McConkey H, Delanne J, Chevarin M, Vautrot V, Bourgeois V, Nguyen S, Marle N, Callier P, Safraou H, Morgan A, Amor DJ, Hildebrand MS, Coman D, Aubert Mucca M, Thevenon J, Laffargue F, Bilan F, Pebrel-Richard C, Yoon G, Axford MM, Pérez-Jurado LA, Sevilla-Porras M, Black DL, Philippe C, Sadikovic B, Thauvin-Robinet C, Olivier-Faivre L, Ori M, Thomas Q, Vitobello A. The Journal of Clinical Investigation. 

Development of a Novel Epilepsy and Dyskinesia Survey for Large-Scale Characterization of Seizure Semiology in Dogs. 
Matz MS, Harmas T, Wielaender F, Hakanen E, Nessler JN, Volk HA, Tipold A, Mandigers PJJ, Jokinen TS, De Risio L, Ricketts SL, Hytönen MK, Parmentier T, James F, Bhatti SFM, Kluger G, Lohi H, Fischer A. Journal of Veterinary Internal Medicine. 

Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA). 
Merlet AN, Lacène E, Nelson I, Brochier G, Labasse C, Chanut A, Madelaine A, Beuvin M, Bonne G, Féasson L, Minot MC, Noury JB, Fradin M, Savarese M, Fernández-Eulate G, Behin A, Stojkovic T, Hentschel A, Marcorelles P, Roos A, Evangelista T. Journal of Neuropathology and Experimental Neurology. 

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.

Human skeletal muscle fiber heterogeneity beyond myosin heavy chains. 
Moreno-Justicia R, Van der Stede T, Stocks B, Laitila J, Seaborne RA, Van de Loock A, Lievens E, Samodova D, Marín-Arraiza L, Dmytriyeva O, Browaeys R, Van Vossel K, Moesgaard L, Yigit N, Anckaert J, Weyns A, Van Thienen R, Sahl RE, Zanoteli E, Lawlor MW, Wierer M, Mestdagh P, Vandesompele J, Ochala J, Hostrup M, Derave W, Deshmukh AS. Nature Communications. 

Plasma N-Glycoproteomics in monozygotic twin pairs discordant for body mass index reveals an obesity signature related to inflammation and iron metabolism. 
Muniandy M, Joenväärä S, van der Kolk B, Tohmola T, Haltia H, Saari S, Hakkarainen A, Lundbom J, Kuula J, Groop P-H, Kaprio J, Heinonen S, Renkonen R, Pietiläinen K. Biology Direct. 

Depression of cortical neuronal activity after a low-dose fentanyl in preterm infants.
Nilsson S, Tokariev A, Vehviläinen T, Fellman V, Vanhatalo S, Norman E. Acta Paediatrica. 

The COVID-19 vaccine ChAdOx1 is opsonized by anti-vector antibodies that activate complement and promote viral vector phagocytosis. 
Nissilä E, Starck L, Aho E, Venerandi E, Jalkanen P, Leskinen K, Uvarov P, Saavalainen P, Julkunen I, Kotimaa J, Haapasalo K, Meri S. Scandinavian Journal of Immunology.

Empowering clinicians with artificial intelligence in hereditary neuromuscular disorders.
Nuredini A, Savarese M, Santorelli FM, Tupler RG. Acta Myologica.

OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development. 
Oghabian A, Jonson PH, Gayathri SN, Johari M, Nippala E, Andres DG, Munell F, Soriano JC, Duran MAS, Sinisalo J, Tolppanen H, Tolva J, Hackman P, Savarese M, Udd B. Skeletal Muscle. 

The incidence of serious complications after selective laser trabeculoplasty. 
Ojanen ES, Turunen JA, Harju M. Acta Ophthalmologica.

Polymyositis in Kooiker dogs is associated with a 39 kb deletion upstream of the canine IL21/IL2 locus. 
Opmeer Y, van Steenbeek FG, Rozendom C, Fieten H, Diaz Espineira MM, Stassen QEM, van Kooten PJ, Rutten VPMG, Hytönen MK, Lohi H, Mandigers PJJ, Leegwater PA. PLoS Genetics.

Novel SCN4A Variants Associated With Myalgic Myotonic Disorder or Paramyotonia.
Periviita V, Männikkö R, Jokela M, Sud R, Hanna MG, Udd B, Palmio J. European Journal of Neurology. 

Transcriptomic and lipidomic profiling provide novel insight into the pathogenesis of monogenic SGMS2-related osteoporosis. 
Pihlström S, Oghabian A, Määttä K, Legebeke J, Mäkitie RE, Campeau PM, Terhal PA, Botto LD, Olkkonen VM, Mäkitie O, Pekkinen M. JBMR Plus.

Clinical use of polygenic scores in type 2 diabetes: challenges and possibilities. 
Prasad RB, Hakaste L, Tuomi T. Diabetologia. 

Polygenic determinants of monogenic diabetes. 
Prasad RB, Tuomi T. Nature Metabolism. 

Intravitreal Enzyme Replacement Therapy Slows Retinopathy in Late Infantile Ceroid Lipofuscinosis Type 2. 
Priglinger CS, Courage C, Lotz-Havla AS, Gerhardt M, Ehrt O, Kurz M, Pudritz H, Rudolph G, Jackson CB, Maier EM. Neuropediatrics. 

Rare genetic variation in PTPRB is associated with central serous chorioretinopathy, varicose veins and glaucoma. 
Rämö JT, Gorman BR, Weng LC, Jurgens SJ, Singhanetr P, Tieger MG, van Dijk EH, Halladay CW, Wang X, Hauser BM, Kim SH, Brinks J, Choi SH, Luo Y; FinnGen; VA Million Veteran Program; Pyarajan S, Nealon CL, Gorin MB, Wu WC, Anthony SA, Roncone DP, Sobrin L, Kaarniranta K, Yzer S, Palotie A, Peachey NS, Turunen JA, Boon CJ, Ellinor PT, Iyengar SK, Daly MJ, Rossin EJ. Nature Communications. 

Novel missense variants associated with GNE myopathy. 
Ranta-Aho J, Cetrangolo V, Bello L, Capece G, Pegoraro E, Feo MFD, Mihaylova V, Jung HH, Hauw F, Stojkovic T, Behin A, Romero N, Maisonobe T, Lucchini M, Oliveira Santos M, Mirabella M, Tasca G, Savarese M, Udd B, Johari M. Neuromuscular Disordorders. http://doi.org/10.1016/j.nmd.2025.106258
The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features. 
Rautiainen N, Brandt E, Kettunen K, Elomaa O, Kivirikko S, Jeskanen L, Lappalainen K, Sjöblom N, Kere J, Hannula-Jouppi K, Harjama L. American Journal of Medical Genetics. 

Pathogenic Germline Variants in Uveal Melanoma Driver and BAP1-Associated Genes in Finnish Patients With Uveal Melanoma. 
Repo PE, Jakkula E, Hiltunen J, Putkuri H, Staskiewicz-Tuikkanen A, Järvinen RS, Täll M, Raivio V, Al-Jamal RT, Kivelä TT, Turunen JA. Pigment Cell and Melanoma Research.

Germline Cancer Susceptibility Variants in Patients With Uveal Melanoma. 
Repo PE, Jakkula E, Hiltunen J, Putkuri H, Staskiewicz-Tuikkanen A, Järvinen RS, Täll M, Raivio V, Al-Jamal RT, Kivelä TT, Turunen JA. Pigment Cell and Melanoma Research.

Allelic frequency of 12-FGF4RG and the association between the genotype with number of calcified intervertebral discs visible on radiographs in Coton de Tuléar and French Bulldog breeds. 
Reunanen VLJ, Jokinen TS, Lilja-Maula L, Hytönen MK, Lappalainen AK. BMC Veterinary Research. 

Common variants in the CPT1A gene are associated with cataracts in Northern breeds of domestic dog. 
Ricketts SL, Ahonen S, Pettitt L, Freyer J, Ellis S, Jenkins CA, Kaukonen M, Boursnell M, Schofield E, Forman OP, Lohi H, Mellersh CS. PLoS One.

Impact of different hypertensive disorders of pregnancy on cardiovascular disease risk and all-cause mortality in women with type 1 diabetes. 
Rimpeläinen K, Jansson Sigfrids F, Gordin D, Klemetti M, Harjutsalo V, Groop PH, Thorn LM. Cardiovascular Diabetology. 

Progression and topographic subtypes of Terrien marginal degeneration. 
Ruutila M, Repo P, Immonen AT, Turunen JA, Lokki ML, Lokki AI, Moilanen J, Krootila K, Kivelä TT. Acta Ophthalmologica. 

Severe early-onset osteoporosis due to heterozygous WNT1 variants in adults: a clinical and therapeutic. 
Ryhänen EM, Mäkitie RE, Pekkarinen T, Kröger H, Tong X, Kerttula L, Mäkitie O, Schalin-Jäntti C. Journal of Bone and Mineral Research. 

Progressive Impairment of Prepubertal Growth in Children With APECED. 
Saari V, Alanko V, Holopainen E, Mäkitie O, Laakso S. Journal of Clinical Endocrinology and Metabolism. 

Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions. 
Sagath L, Kiiski K, Naidu K, Patel K, Jonson PH, Laarne M, Djordjevic D, Yoon G, LaGroon A, Rogers C, Galindo MK, Scherer K, Kunstmann E, Koparir E, Ho D, Davis M, Joshi P, Zygmunt A, Orbach R, Donkervoort S, Bönnemann CG, Savarese M, Echaniz-Laguna A, Biancalana V, Genetti CA, Iannaccone ST, Beggs AH, Wallgren-Pettersson C, Henning F, Pelin K, Lehtokari VL. European Journal of Human Genetics.

Long-term health outcomes of people without celiac disease avoiding gluten consumption: a 25-year prospective cohort study. 
Salmela E, Kalle K, Lindfors K, Saavalainen P, Huhtala H, Kaukinen K, Taavela J. European Journal of Clinical Nutrition. 

Dextran sodium sulfate-induced colitis in male BALB/c mice leads to albuminuria and increased markers of inflammation and tissue damage in the kidney. 
Salmenkari H, Adeshara K, Pirttiniemi A, Linden J, Lehtonen S, Sandholm N, Groop P-H, Lehto M. Physiological Reports. 

Genetic Loci Associated With Periodontitis: The FinnGen Study Based on National Health Registers. 
Salminen A, Hyvärinen K, Ritari J, Caetano A, Kambur O, Mäntylä P, Yilmaz M, Sinisalo J; FinnGen; Perola M, Havulinna A, Nibali L, Gürsoy UK, Pussinen PJ. Jounal of Clinical Periodontology. 

Body Composition in Adults Born at Very Low Birthweight-A Sibling Study. 
Sandboge S, Kuula J, Hauta-Alus H, Kaseva N, Jussinniemi L, Björkqvist J, Hovi P, Eriksson JG, Mäkitie O, Pietiläinen KH, Kajantie E. Paediatric and Perinatal Epidemiology. 

Intravenous Glucose Tolerance Tests in Predicting Diabetes Onset in APECED: A Retrospective Cohort Study. 
Sandini E, Laakso S, Tuomaala AK, Mäkitie O, Paldánius PM. Journal of the Endocrine Society. 

C-terminal extension of HSPB6 in a family with myopathy and cataract. 
Sarparanta J, Jonson PH, Vihola A, Luque H, Villar-Quiles RN, Stojkovic T, Sian V, Walder C, Suominen T, Hackman P, Romero NB, Eymard B, Udd B. Human Molecular Genetics.

Autosomal dominant tibial muscular dystrophy in Estonia. 
Sarv S, Reimand T, Õiglane-Shlik E, Puusepp S, Pajusalu S, Murumets, Turku T, Põlluaas L, Mihkla L, Ütt S, Gross-Paju K, Väli L, Kahre T, Savarese M, Hackman P, Udd B, Õunap K. Journal of Translational Genetics and Genomics.

Lgi2-deficient mice manifest epileptiform activity in the developing hippocampal network and ADHD-like behavioural comorbidity in adulthood. 
Savonlehto T, Nevalainen E, Kukko-Lukjanov TK, Hytönen MK, Seppälä E, Segerstråle M, Partanen J, Lauri SE, Lohi H, Taira T. Experimental Neurology.

CVOT Summit Report 2024. 
Schnell O, Almandfz J, Anderson L, Barnard-Kelly K, Battelino T, Blüher M, Busetto L, Catrinou D, Ceriello A, Cos X, Danne T, Dayan CM, del Prato S, Fernández-Fernández B, Fioretto P, Forst T, Gavin III JR, Giorgino F, Groop P-H, Harsch IA, Heerspink HJL, Heinemann L, Ibrahim M, Jadoul M, Jarvis S, Ji L, Kanumilli N, Kosiborod M, Landmesser U, Macieira S, Mankovsky B, Marx.N, Mathieu C, McGowan B, Milenkovich T, Moser O, Müller-Wieland D, Papanas N, Patel DC, Pfeiffer AFH, Rahelic D, Rodbard HW, Rydén L, Schaeffner E, Spearman W, Stirban A, Tacke F, Topsever P, van Gaal L, Standl E. Cardiovascular Diabetology. 

Integrated single-cell functional-proteomic profiling reveals a shift in myofibre specificity in human nemaline myopathy: A proof-of-principle study. 
Seaborne RAE, Moreno-Justicia R, Laitila J, Lewis CTA, Savoure L, Zanoteli E, Lawlor MW, Jungbluth H, Deshmukh AS, Ochala J. Journal of Physiology. 

Heme oxygenase-1 polymorphisms associate with ischemic cardiac complications and all-cause mortality in type 1 diabetes. 
Segersvärd H, Sandholm N, Harjutsalo V, Tikkanen H, Kosonen R, Laine M, Tikkanen I, Groop PH, Lakkisto P, FinnDiane Study Group. Cardiovascular Diabetology.

Genetic Risk for Open-Angle Glaucoma Subtypes Is Associated with Specific Visual Field Defect Classes. 
Sekimitsu S, Selvan K, Zhao Y, Hashemabad SK, Eslami M, Wang M, Elze T, Segrè AV, Turunen JA, Palotie A, Rämō J, Wiggs JL, Pasquale LR, Kang JH, Zebardast N. Ophthalmology. 

Novel Mutations in Titin Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern Europe. 
Sian V, Di Feo MF, Kurbatov S, Vihola A, Luque H, Konovalov F, Peric S, Duffy C, Kornblum C, Claeys KG, Hackman P, Udd B, Savarese M. European Journal of Neurology.

Optimizing 2D in vitro differentiation conditions for C2C12 murine myoblasts on gelatin hydrogel. 
Sian V, Jonson PH, Vainio A, Luque H, Gayathri SN, Hackman P, Udd B, Savarese M, Sarparanta J. Journal of Muscle Research and Cell Motility.

Polygenic prediction of body mass index and obesity through the life course and across ancestries. 
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Trophoblast stem cell derivation from naive and primed hPSC enables ELF5 functional analysis. 
Sokka J, Lapinsuo E, Kvist J, Jalil S, Yoshihara M, Weltner J, Lanner F, Kere J, Balboa D, Otonkoski T, Trokovic R. Stem Cell Reports.

Myotilin gene duplication causing late-onset myotilinopathy. 
Spinazzi M, Savarese M, Letournel F, Sagath L, Manero F, Guichet A, Hoischen A, Metay C, Gouju J, Udd B. European Journal of Neurology. 

Progression of Cerebral Small Vessel Disease Among Neurologically Asymptomatic Middle-Aged Individuals With Type 1 Diabetes. 
Tarkkonen A, Kyläheiko I, Inkeri J, Eriksson MI, Thorn LM, Summanen PA, Tatlisumak T, Groop PH, Putaala J, Gordin D, Martola J; FinnDiane Study Group. Diabetes Care.

Genetic liability to psoriasis predicts severe disease outcomes. 
Tasanen K, Traks T, Tsoi LC, Uebe S, Watts K; BSTOP study group; Barker JN, Mahil SK, Langan SM; FinnGen, Estonian Biobank research team; Brown SJ, Løset M, Paternoster L, Dand N, Smith CH, Simpson MA. Genome Medicine. 

Sokeritaudista diabeteksen alatyyppeihin. 
Tuomi T. Duodecim. 

Dermal IgA Is Rare in Celiac Disease and Relatives and Lacks Dermatitis Herpetiformis-Type Colocalization with Transglutaminase 3. 
Turjanmaa E, Kaunisto H, Kemppainen E, Nilsson N, Hervonen K, Mankki I, Jernman J, Saavalainen P, Lempainen J, Alakoski A, De Leo L, Ziberna F, Reunala T, Kaukinen K, Lindfors K, Salmi T. Journal of Investigative Dermatology.

Parsing Glomerular and Tubular Structure Variability in High-Throughput Kidney Organoid Culture.
Uusi-Rauva K, Pirttiniemi A, Hassinen A, Trokovic R, Lehtonen S, Kallijärvi J, Lehto M, Fellman V, Groop PH. Methods and Protocols.

Genome-wide characterization of 54 urinary metabolites reveals molecular impact of kidney function. 
Valo E, Richmond A, Mutter S, Dahlström EH, Campbell A, Porteous DJ, Wilson JF; FinnDiane Study Group; Groop PH, Hayward C, Sandholm N. Nature Communications.

The total gut mucosal and fecal bacterial load increases in successful treatment of inflammatory bowel disease with infliximab. 
Ventin-Holmberg R, Eriksson J, Eberl A, Sipponen T, Nissilä E, Saavalainen P. Microbiology Spectrum. 

Exome and Genome Sequencing Reveals Novel Variants for Severe Diabetic Retinopathy in Type 1 Diabetes. 
Vuori N, Antikainen AA, Haukka JK, Harjutsalo V, Groop PH, Sandholm N; FinnDiane Study Group. Investigative Ophthalmology and Visual Science.

Effects of parental autoimmune diseases on type 1 diabetes in offspring can be partially explained by HLA and non-HLA polymorphisms. 
Wang F, Liu A, Yang Z, Vartiainen P, Jukarainen S, Koskela S, Oram R, Allen L, Ritari J, Partanen J; FinnGen; Perola M, Tuomi T, Ganna A. Cell Genomics. 

Infertility following trisomic pregnancies: A nationwide cohort study. 
Wedenoja S, Pihlajamäki M, Gissler M, Wedenoja J, Öhman H, Heinonen S, Kere J, Kääriäinen H, Tanner L. International Journal of Gynaecology and Obstetrics.

Enrichment of rare CFTR variants in Finnish patients with congenital chloride diarrhea.
Wedenoja S, Ritari J, Partanen J, Kere J, Kolho KL. PLoS One.

Adult-onset type 1 diabetes: predictors of major cardiovascular events and mortality.
Wei Y, Andersson T, Tuomi T, Nyström T, Carlsson S. European Heart Journal.

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets. 
Weisburd B, Sharma R, Pata V, Reimand T, Ganesh VS, Austin-Tse C, Osei-Owusu I, O'Heir E, O'Leary M, Pais L, Stafki SA, Daugherty AL, Folland C, Peric S, Fahmy N, Udd B, Horáková M, Łusakowska A, Manoj R, Nalini A, Karcagi V, Polavarapu K, Lochmüller H, Horvath R, Bönnemann CG, Donkervoort S, Haliloğlu G, Herguner O, Kang PB, Ravenscroft G, Laing N, Scott HS, Töpf A, Straub V, Pajusalu S, Õunap K, Tiao G, Rehm HL, O'Donnell-Luria A. Genetics in Medicine. 

Polygeeninen riskinarviointi kansantautien ehkäisyssä ja hoidossa. 
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Multi-omics analysis in inclusion body myositis identifies mir-16 responsible for HLA overexpression. 
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