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Author Details

Mitja I Kurki
2011
87
34
PMIDPaper TitleJournal TitlePublished Year
37179546Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.2023
37551667Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.Genet Med2023
36653562FinnGen provides genetic insights from a well-phenotyped isolated population.Nature2023
36908397LAVAA: a lightweight association viewer across ailments.Bioinform Adv2023
36829046Author Correction: FinnGen provides genetic insights from a well-phenotyped isolated population.Nature2023
36653560Mono- and biallelic variant effects on disease at biobank scale.Nature2023
36653479Genetic predictors of lifelong medication-use patterns in cardiometabolic diseases.Nat Med2023
36653477Genome-wide association study of varicose veins identifies a protective missense variant in GJD3 enriched in the Finnish population.2023
36653354Inflammatory and infectious upper respiratory diseases associate with 41 genomic loci and type 2 inflammation.Nat Commun2023
36653343Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure.Nat Commun2023
37464041Depression pathophysiology, risk prediction of recurrence and comorbid psychiatric disorders using genome-wide analyses.Nat Med2023
37079300Overlap of Genetic Loci for Central Serous Chorioretinopathy With Age-Related Macular Degeneration.JAMA Ophthalmol2023
36865330Distinct and shared genetic architectures of Gestational diabetes mellitus and Type 2 Diabetes Mellitus.medRxiv2023
35087184A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development.Eur J Hum Genet2022
35760976The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia.Nat Commun2022
36114182Efficient and accurate frailty model approach for genome-wide survival association analysis in large-scale biobanks.Nat Commun2022
35978133Inframe insertion and splice site variants in MFGE8 associate with protection against coronary atherosclerosis.Commun Biol2022
34862199Recessive Genome-Wide Meta-analysis Illuminates Genetic Architecture of Type 2 Diabetes.Diabetes2022
34594039A cross-population atlas of genetic associations for 220 human phenotypes.Nat Genet2021
33893285The impact of non-additive genetic associations on age-related complex diseases.Nat Commun2021
33526825Polygenic burden has broader impact on health, cognition, and socioeconomic outcomes than most rare and high-risk copy number variants.Mol Psychiatry2021
33243845Genetic analysis of obstructive sleep apnoea discovers a strong association with cardiometabolic health.European Respiratory Journal2021
34916535Author Correction: GWAS of thyroid stimulating hormone highlights the pleiotropic effects and inverse association with thyroid cancer.Nat Commun2021
31506600Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.Eur J Hum Genet2020
32251405Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan.Nat Med2020
32769997GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer.Nat Commun2020
32933532Diabetes is associated with familial idiopathic normal pressure hydrocephalus: a case-control comparison with family members.Fluids and Barriers of the CNS2020
31145742Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.PLoS Genet2019
30557660A multiomic approach to characterize the temporal sequence in Alzheimer's disease-related pathology.Neurobiology of Disease2019
30476927Saccular Intracranial Aneurysms in Children When Both Parents Are Sporadic or Familial Carriers of Saccular Intracranial Aneurysms.Neuroepidemiology2019
29741669Prevalence of Schizophrenia in Idiopathic Normal Pressure Hydrocephalus.Neurosurgery2019
29767773Aneurysm Size is the Strongest Risk Factor for Intracranial Aneurysm Growth in the Eastern Finnish Population.Neurosurgery2019
30914828Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.Eur J Hum Genet2019
30679432Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland.Nat Commun2019
30890702Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans.Nature Communications2019
30940925Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).Genet Med2019
31239556CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.Genet Med2019
29795570Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.PLoS Genet2018
28605505Impact of Young Age on the Presentation of Saccular Intracranial Aneurysms: Population-Based Analysis of 4082 Patients.Neurosurgery2018
29930110Analysis of shared heritability in common disorders of the brain.Science2018
30584596Copy number loss in is common among Finnish and Norwegian patients with iNPH.Neurology: Genetics2018
30379949Secondary hypertension in patients with saccular intracranial aneurysm disease: A population based study.PLoS ONE2018
30189203Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families.Neuron2018
29861106Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum.Am J Hum Genet2018
29706349Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland.Am J Hum Genet2018
29731251Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families.Neuron2018
28061364De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.Am J Hum Genet2017
28468927Irregular Shape Identifies Ruptured Intracranial Aneurysm in Subarachnoid Hemorrhage Patients With Multiple Aneurysms.Stroke2017
28984604Alzheimer's Disease-Related Polymorphisms in Shunt-Responsive Idiopathic Normal Pressure Hydrocephalus.Journal of Alzheimer's Disease2017
28978659Polycystic kidney disease among 4,436 intracranial aneurysm patients from a defined population.Neurology2017
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Massachusetts General Hospital
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Finnish Cardiovascular Research Center-Tampere - FCRCT, Tampere University
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Institute for Molecular Medicine Finland (FIMM), University of Helsinki
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Kuopio University Hospital, University of Eastern Finland
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University of Iceland
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Stanford University School of Medicine
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Broad Institute of MIT and Harvard
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Broad Institute of MIT and Harvard
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