List of works by Aarno Palotie

2014 Curt Stern Award introduction: Mark Daly

scientific article published on March 2015

8q24 amplification in transitional cell carcinoma of bladder.

scientific article published in March 2003

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

scientific article published on 24 March 2017

A central role for GRB10 in regulation of islet function in man.

scientific article published on 3 April 2014

A combined analysis of genome-wide association studies in breast cancer

scientific article published on 26 September 2010

A comparison of the whole genome approach of MeDIP-seq to the targeted approach of the Infinium HumanMethylation450 BeadChip(®) for methylome profiling

scientific article

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

A first update on mapping the human genetic architecture of COVID-19

scientific article published on 3 August 2022

A framework for the interpretation of de novo mutation in human disease

scientific article (publication date: 3 August 2014)

A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance

scientific article published on 13 May 2012

A genome-wide association meta-analysis identifies new childhood obesity loci

scientific article

A genome-wide association scan on estrogen receptor-negative breast cancer

scientific article

A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy

scientific journal article

A genome-wide association study of depressive symptoms

scientific journal article

A genome-wide association study of monozygotic twin-pairs suggests a locus related to variability of serum high-density lipoprotein cholesterol

scientific article

A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol

scientific article

A high-density association screen of 155 ion transport genes for involvement with common migraine

scientific article

A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration

scientific article

A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function

scientific article

A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline

scientific article

A novel common variant in DCST2 is associated with length in early life and height in adulthood

scientific article published on 3 October 2014

A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development

scientific article published on 28 January 2022

A potential novel spontaneous preterm birth gene, AR, identified by linkage and association analysis of X chromosomal markers

scientific article

A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

scientific article published on 23 November 2016

A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

scientific article published on 09 August 2016

A quality assessment survey of SNP genotyping laboratories

A reference panel of 64,976 haplotypes for genotype imputation

scientific article

A susceptibility locus for migraine with aura, on chromosome 4q24.

scientific article published on 08 February 2002

Acetazolamide improves neurotological abnormalities in a family with episodic ataxia type 2 (EA-2).

scientific article published in February 2004

Adiposity as a cause of cardiovascular disease: a Mendelian randomization study

scientific article

Age- and sex-specific causal effects of adiposity on cardiovascular risk factors

scientific article published on 23 February 2015

An evaluation of different target enrichment methods in pooled sequencing designs for complex disease association studies

scientific article

An evolutionary genomic approach to identify genes involved in human birth timing

scientific article

An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease

scientific article published on 27 October 2020

An immune response network associated with blood lipid levels

scientific article

An interaction map of circulating metabolites, immune gene networks, and their genetic regulation

scientific article

Analysis of Genetic Variation in the GenomEUtwin Project ⬇️

scientific article published on October 1, 2003

Analysis of Tie receptor tyrosine kinase in haemopoietic progenitor and leukaemia cells ⬇️

scientific article published on July 1, 1997

Analysis of protein-coding genetic variation in 60,706 humans

scientific article (publication date: 17 August 2016)

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

Analysis of shared heritability in common disorders of the brain

Analysis of the Na,K-ATPase α- and β-subunit expression profiles of bladder cancer using tissue microarrays

article

Analysis of the phosphatidylinositol 3'-kinase signaling pathway in glioblastoma patients in vivo

scientific article

Association Study of Nonsynonymous Single Nucleotide Polymorphisms in Schizophrenia

article by Noa Carrera et al published January 2012 in Biological Psychiatry

Association analyses identify 31 new risk loci for colorectal cancer susceptibility

scientific article published on 14 May 2019

Association between chronic disseminated candidiasis in adult acute leukemia and common IL4 promoter haplotypes

scientific article published on 19 March 2003

Association of the timing of puberty with a chromosome 2 locus

scientific article published on 23 September 2008

Author Correction: Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function ⬇️

scientific article published on 01 May 2019

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

scientific article published on 17 August 2016

Biomarker profiling by nuclear magnetic resonance spectroscopy for the prediction of all-cause mortality: an observational study of 17,345 persons

scientific article

CD14 and TNfa promoter polymorphisms in patients with acute arthritis. Special reference to development of chronic spondyloarthropathy.

scientific article

CHD2 variants are a risk factor for photosensitivity in epilepsy

scientific article published on 17 March 2015

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

scientific article published on 29 September 2017

CXCR3 Polymorphism and Expression Associate with Spontaneous Preterm Birth

Carbonic anhydrase IX is an independent predictor of survival in advanced renal clear cell carcinoma: implications for prognosis and therapy

scientific article (publication date: February 2003)

Chromosome 19p13 loci in Finnish migraine with aura families

scientific article

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

scientific article

Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis

article

Combined genome scans for body stature in 6,602 European twins: evidence for common Caucasian loci

scientific article

Combined genome scans for body stature in 6602 European twins: evidence for common Caucasian loci

Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families

article by Padhraig Gormley et al published 16 May 2018 in Neuron

Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families

article by Padhraig Gormley et al published September 2018 in Neuron

Common polymorphisms in critical genes of innate immunity do not contribute to the risk for chronic disseminated candidiasis in adult leukemia patients

scientific article published in June 2005

Common risk variants identified in autism spectrum disorder

Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk

scientific article published on 21 November 2011

Common variants associated with plasma triglycerides and risk for coronary artery disease

scientific article

Common variants at 12q15 and 12q24 are associated with infant head circumference

scientific article published on 15 April 2012

Common variants on 8p12 and 1q24.2 confer risk of schizophrenia

scientific article published on 30 October 2011

Common variants show predicted polygenic effects on height in the tails of the distribution, except in extremely short individuals

scientific article

Comorbidity in Finnish migraine families

scientific article

Comparison of GenFlex Tag Array and Pyrosequencing in SNP Genotyping ⬇️

scientific article published on November 1, 2003

Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci

scientific article published on 09 June 2022

Concordance of genetic risk across migraine subgroups: Impact on current and future genetic association studies

scientific article published on September 2014

Consistently replicating locus linked to migraine on 10q22-q23

scientific article published on May 2008

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

scientific article

Contribution of rare and common variants to intellectual disability in a high-risk population sub-isolate of Northern Finland

scholarly article published 28 May 2018

Correction: Genome-Wide Association Studies of Asthma in Population-Based Cohorts Confirm Known and Suggested Loci and Identify an Additional Association near HLA

scientific article published in PLoS ONE

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

scientific article

Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

scientific article published on 21 October 2019

Correlation of Ki-67 and gelsolin expression to clinical outcome in renal clear cell carcinoma

scientific article

De novo Variants In Neurodevelopmental Disorders With Epilepsy

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

scientific article

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

scientific article

De novo mutations in schizophrenia implicate synaptic networks

scientific article

De novo variants in neurodevelopmental disorders with epilepsy

scientific article published on 25 June 2018

Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders

scientific article published on 04 August 2013

Describing the genetic architecture of epilepsy through heritability analysis

scientific article

Detailed metabolic and genetic characterization reveals new associations for 30 known lipid loci

scientific article

Determination and use of haplotypes: ethnic comparison and association of the lipoprotein lipase gene and coronary artery disease in Mexican-Americans

scientific article published in July 2003

Diagnostic implications of genetic copy number variation in epilepsy plus

scientific article published on 13 March 2019

Discovery and refinement of loci associated with lipid levels

scientific article

Disentangling the genetics of lean mass

article

Distinct variants at LIN28B influence growth in height from birth to adulthood

scientific article

Distribution and medical impact of loss-of-function variants in the Finnish founder population

scientific article

Donor-recipient mismatch for common gene deletion polymorphisms in graft-versus-host disease

scientific article

Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy

scientific article

Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient

scientific article published in 2011

Effect of Smoking on Blood Pressure and Resting Heart Rate: A Mendelian Randomization Meta-Analysis in the CARTA Consortium

scientific article

Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations

scientific article published on 23 June 2017

Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland

scientific article published on 04 May 2016

Epigenetic DNA methylation changes associated with headache chronification: A retrospective case-control study

scientific article published on January 2017

Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

scientific article published on 13 September 2016

Erratum: Common variants at 12q15 and 12q24 are associated with infant head circumference

scholarly article published in Nature Genetics

Erratum: Corrigendum: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

scientific article published in October 2016

Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass

scientific article

Evaluation of HapMap data in six populations of European descent

scientific article

Expression of colony-stimulating factor 1 receptor during prostate development and prostate cancer progression

scientific article

Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family

scientific article published on 22 July 2017

Fiber-FISH: experiences and a refined protocol

scientific article published on 01 March 1996

Finding disease candidate genes by liquid association

scientific article

Fine-Scale Genetic Structure in Finland

scientific article published on 5 October 2017

Finland establishing the internet of genomics and health data

scientific article published in January 2017

Founder population-specific HapMap panel increases power in GWA studies through improved imputation accuracy and CNV tagging

scientific article

From genetic discovery to future personalized health research

scientific article published on 16 November 2012

GWAS meta-analysis (N=279,930) identifies new genes and functional links to intelligence

article

GWAS of 126,559 individuals identifies genetic variants associated with educational attainment

scientific article published on 21 June 2013

Gain-of-function mutation of the SCN5A gene causes exercise-induced polymorphic ventricular arrhythmias

scientific article published on 10 September 2014

Gene co-expression analysis identifies brain regions and cell types involved in migraine pathophysiology: a GWAS-based study using the Allen Human Brain Atlas

scientific article published on 22 February 2016

Gene family information facilitates variant interpretation and identification of disease-associated genes

article

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

scientific article published on 17 March 2020

Gene-based pleiotropy across migraine with aura and migraine without aura patient groups

scientific article published on 8 December 2015

Genetic Associations with Gestational Duration and Spontaneous Preterm Birth

scientific article published on 6 September 2017

Genetic Variants on Chromosome 1p13.3 Are Associated with Non-ST Elevation Myocardial Infarction and the Expression of DRAM2 in the Finnish Population

scientific article published on 28 October 2015

Genetic analysis for a shared biological basis between migraine and coronary artery disease

scientific article published on June 2015

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

scientific article published on 17 September 2018

Genetic and environmental influences on migraine: a twin study across six countries

scientific article

Genetic architecture of human plasma lipidome and its link to cardiovascular disease

scientific article published on 24 September 2019

Genetic associations of protein-coding variants in human disease

scientific article published on 23 February 2022

Genetic component of identification, intensity and pleasantness of odours: a Finnish family study

scientific article published on 7 March 2007

Genetic evidence of assortative mating in humans

article

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

scientific article

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

scientific article

Genetic risk prediction and a 2-stage risk screening strategy for coronary heart disease

scientific article

Genetic similarity of chromosome 6 between patients receiving hematopoietic stem cell transplantation and HLA matched sibling donors

scientific article published on 10 March 2009

Genetics of migraine.

scientific article published in January 2018

Genome wide association identifies common variants at the SERPINA6/SERPINA1 locus influencing plasma cortisol and corticosteroid binding globulin

scientific article (publication date: July 2014)

Genome-Wide Association Study Reveals First Locus for Anorexia Nervosa and Metabolic Correlations

scholarly article

Genome-Wide Meta-Analysis of Sciatica in Finnish Population

scientific article

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

scientific article

Genome-wide and fine-resolution association analysis of malaria in West Africa

scientific article

Genome-wide association analysis identifies susceptibility loci for migraine without aura

scientific article

Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity

scientific article

Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence

article

Genome-wide association meta-analysis of fish and EPA+DHA consumption in 17 US and European cohorts.

scientific article published on 13 December 2017

Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA.

scientific article

Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci

scientific article published on 28 March 2022

Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci

scientific article published on 28 September 2017

Genome-wide association study identifies 48 common genetic variants associated with handedness

scientific article published on 28 September 2020

Genome-wide association study identifies 74 loci associated with educational attainment

scientific article published on 11 May 2016

Genome-wide association study identifies multiple loci influencing human serum metabolite levels

scientific article

Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene

scientific article

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

scientific article

Genome-wide association study of bronchopulmonary dysplasia: a potential role for variants near the CRP gene

scientific article published on 24 August 2017

Genome-wide association study of intracranial aneurysm identifies a new association on chromosome 7.

scientific article

Genome-wide association study of intracranial aneurysm identifies three new risk loci

scientific article

Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.

scientific article

Genome-wide association study of sleep duration in the Finnish population

scientific article published on 11 August 2014

Genome-wide association study reveals three susceptibility loci for common migraine in the general population

scientific article

Genome-wide association study to identify common variants associated with brachial circumference: a meta-analysis of 14 cohorts

scientific article (publication date: 2012)

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

scientific journal article

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

Genome-wide meta-analysis identifies new susceptibility loci for migraine

scientific article

Genome-wide meta-analysis of common variant differences between men and women

scientific article published on 27 July 2012

Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels

scientific article published on February 2016

Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits

scientific journal article

Genome-wide studies of verbal declarative memory in nondemented older people: the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium

scientific article

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

article

Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

scientific article published on 23 September 2016

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

scientific article published on 24 April 2017

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

scientific article published on 8 August 2017

Genomic prediction of coronary heart disease

scientific article published on 21 September 2016

Genomic, Transcriptomic, and Lipidomic Profiling Highlights the Role of Inflammation in Individuals With Low High-density Lipoprotein Cholesterol

Geographical structure and differential natural selection among North European populations

scientific article published on 05 March 2009

Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland

scholarly article by Alicia R Martin et al published 3 May 2018 in American Journal of Human Genetics

Harmonization of Neuroticism and Extraversion phenotypes across inventories and cohorts in the Genetics of Personality Consortium: an application of Item Response Theory

scientific article published on 15 May 2014

Heavier smoking may lead to a relative increase in waist circumference: evidence for a causal relationship from a Mendelian randomisation meta-analysis. The CARTA consortium

scientific article

High divergence in primate-specific duplicated regions: human and chimpanzee chorionic gonadotropin beta genes

scientific article

High frequency of the H63D mutation of the HFE hemochromatosis gene in liver recipients with fulminant non-a-b-c hepatitis

article

High prevalence of four long QT syndrome founder mutations in the Finnish population

scientific article

High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms

scientific article published on 30 January 2014

High-Resolution Physical and Transcriptional Mapping of the Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy Locus on Chromosome 21q22.3 by FISH ⬇️

scientific article (publication date: August 1997)

IFITM3 restricts the morbidity and mortality associated with influenza

scientific article

Identification of common genetic risk variants for autism spectrum disorder

scientific article published on 25 February 2019

Identification of molecular subtypes of glioblastoma by gene expression profiling

scientific article published in April 2003

Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease

scientific article

Identification of quantitative trait loci for fibrin clot phenotypes: the EuroCLOT study

scientific article

Identification of seven loci affecting mean telomere length and their association with disease

scientific article published on April 2013

Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder

scientific article

Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel

scientific article

Independent and cumulative coeliac disease-susceptibility loci are associated with distinct disease phenotypes

scientific article published on 15 January 2021

Independent evidence for an association between general cognitive ability and a genetic locus for educational attainment

scientific article published on 7 May 2015

Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells

scientific article published on 14 October 2020

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

preprint published 25 September 2016

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

scientific article

Interaction Testing and Polygenic Risk Scoring to Estimate the Association of Common Genetic Variants With Treatment Resistance in Schizophrenia

scientific article

Intracranial aneurysm risk locus 5q23.2 is associated with elevated systolic blood pressure

scientific article

Investigating the possible causal association of smoking with depression and anxiety using Mendelian randomisation meta-analysis: the CARTA consortium

scientific article published on 7 October 2014

Investigation of GRIN2A in common epilepsy phenotypes

scientific article published on 2 June 2015

Involvement of astrocyte and oligodendrocyte gene sets in migraine

scientific article published on 7 December 2015

Ischemic stroke is associated with the ABO locus: the EuroCLOT study

scientific article published on January 2013

Ki67, gelsolin and PTEN expression in sarcomatoid renal tumors.

scientific article

Kinetic alterations due to a missense mutation in the Na,K-ATPase alpha2 subunit cause familial hemiplegic migraine type 2

scientific article

Large meta-analysis of genome-wide association studies identifies five loci for lean body mass

scientific article

Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets

scientific article

Lessons from studying monogenic disease for common disease

scientific article

MYO9B polymorphisms in multiple sclerosis

scientific article published on 14 January 2009

Maintenance of genetic variation in human personality: testing evolutionary models by estimating heritability due to common causal variants and investigating the effect of distant inbreeding

scientific article

Mapping a new spontaneous preterm birth susceptibility gene, IGF1R, using linkage, haplotype sharing, and association analysis

scientific article

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

scientific article published on 8 April 2022

Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer

scientific article published on 23 June 2016

Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer

scientific article

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

scientific article

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

scientific article

Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium

scientific article published on 11 September 2015

Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder

scientific article

Metabonomic, transcriptomic, and genomic variation of a population cohort

scientific article

Migraine genetics: from genome-wide association studies to translational insights

scientific article published on 19 August 2016

Migraine: a complex genetic disorder

scientific article published on June 2007

Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy

scientific article

Molecular pathology of aneurysms

scientific article published on 28 April 2008

Mother's genome or maternally-inherited genes acting in the fetus influence gestational age in familial preterm birth

scientific article

Multi-Trait Analysis of GWAS and Biological Insights Into Cognition: A Response to Hill (2018)

scientific article published on 13 July 2018

Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.

scientific article published on 22 December 2017

Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease

scientific article (publication date: 17 September 2013)

Neural, not gonadal, origin of brain sex differences in a gynandromorphic finch

scientific article

New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk ⬇️

scientific article published on February 2016

Ninety-nine independent genetic loci influencing general cognitive function include genes associated with brain health and structure (N = 280,360)

No evidence for genome-wide interactions on plasma fibrinogen by smoking, alcohol consumption and body mass index: results from meta-analyses of 80,607 subjects

scientific article

No evidence for shared etiology in two demyelinative disorders, MS and PLOSL

scientific article

NordicDB: a Nordic pool and portal for genome-wide control data

scientific article

Novel 6p21.3 Risk Haplotype Predisposes to Acute Coronary Syndrome

scientific article published on 17 December 2015

Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney

scientific article

Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis

scientific article

Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk

article

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

scientific article

OR.102. The CD58 Pathway is Implicated in MS Susceptibility

PRKCA and multiple sclerosis: association in two independent populations

scientific article

Pain in 1,000 women treated for breast cancer: a prospective study of pain sensitivity and postoperative pain

scientific article published in December 2013

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

scientific article

Patterns of inheritance of constitutional delay of growth and puberty in families of adolescent girls and boys referred to specialist pediatric care.

scientific article published on 26 December 2007

Phenome-wide association studies across large population cohorts support drug target validation

scientific article published in Nature Communications

Phenotype mining in CNV carriers from a population cohort

scientific article

Phenotypic Consequences of a Genetic Predisposition to Enhanced Nitric Oxide Signaling

scientific article published on 5 October 2017

Pitfalls in genetic testing: the story of missed SCN1A mutations

scientific article published on 14 April 2016

Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways

scientific article published on 01 August 2019

Polygenic burden in focal and generalized epilepsies

scientific article published on 01 November 2019

Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy

scientific article

Primate-specific evolution of noncoding element insertion into PLA2G4C and human preterm birth

scientific article

Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis

scientific article

Probing the brain of comorbidity

scientific article

Pubertal timing and growth influences cardiometabolic risk factors in adult males and females

scientific article published on 14 February 2012

Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

scholarly article published in Nature Genetics

Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

erratum

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

article

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

scientific article

Roadmap for a precision-medicine initiative in the Nordic region

scientific article published on 01 June 2019

Segmental duplications flank the multiple sclerosis locus on chromosome 17q.

scientific article published on 15 July 2004

Serum calcium and risk of migraine: a Mendelian randomization study

scientific article

Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders

scientific article

Shared genetic basis for migraine and ischemic stroke: A genome-wide analysis of common variants.

scientific article published in May 2015

Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies

scientific article published on 16 February 2020

Shared genetic risk between migraine and coronary artery disease: A genome-wide analysis of common variants

scientific article published on 28 September 2017

Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

scientific journal article

Somatic, positive and negative domains of the Center for Epidemiological Studies Depression (CES-D) scale: a meta-analysis of genome-wide association studies

scientific article

Stratification by smoking status reveals an association of CHRNA5-A3-B4 genotype with body mass index in never smokers

scientific article published on 4 December 2014

Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function ⬇️

scientific article published on 29 May 2018

Susceptibility loci for intracranial aneurysm in European and Japanese populations

scientific article

Systematic re-evaluation of genes from candidate gene association studies in migraine using a large genome-wide association data set.

scientific article

Targeted resequencing of the pericentromere of chromosome 2 linked to constitutional delay of growth and puberty

scientific article published on June 2015

The Contribution of GWAS Loci in Familial Dyslipidemias

scientific article

The GENCODE exome: sequencing the complete human exome

scientific article

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

scientific article

The Value of FLG Null Mutations in Predicting Treatment Response in Atopic Dermatitis: An Observational Study in Finnish Patients

scientific article published on 14 November 2016

The contribution of CACNA1A, ATP1A2 and SCN1A mutations in hemiplegic migraine: A clinical and genetic study in Finnish migraine families

article by Marjo Eveliina Hiekkala et al published 27 February 2018 in Cephalalgia

The effect of LRRK2 loss-of-function variants in humans

scientific article published on 27 May 2020

The functional spectrum of low-frequency coding variation

scientific article published on 14 September 2011

The future of technologies for personalised medicine

scientific article published on September 2012

The genome-wide patterns of variation expose significant substructure in a founder population

scientific article (publication date: December 2008)

The impact of low-frequency and rare variants on lipid levels

scientific article published on 11 May 2015

The molecular genetics of migraine

scientific article

The role of the CD58 locus in multiple sclerosis

scientific article

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

scientific article

Tissue microarray analysis of cytoskeletal actin-associated biomarkers gelsolin and E-cadherin in urothelial carcinoma

scientific article published in September 2002

Toward a roadmap in global biobanking for health

scientific article (publication date: November 2012)

Towards a European consensus for reporting incidental findings during clinical NGS testing

scientific article published on 3 June 2015

Towards an understanding of genetic predisposition to migraine

scientific article published on 21 March 2011

Trans-ancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders

scholarly article published 10 March 2018

Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension

scientific article published on 12 September 2016

Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders

scientific article published on 26 November 2018

Traumatic brain injury: integrated approaches to improve prevention, clinical care, and research

scientific article published on 6 November 2017

Tumor classification by tissue microarray profiling: random forest clustering applied to renal cell carcinoma

scientific article

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

scientific article published on 03 October 2016

Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS.

scientific article published on 16 February 2009

Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels

scientific article published on 11 December 2008

Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease

scientific article published on 22 March 2016

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

article

Whole genome association scan for genetic polymorphisms influencing information processing speed

scientific article published on 3 December 2010

Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom

scientific article published on February 2017

Within-family outliers: segregating alleles or environmental effects? A linkage analysis of height from 5815 sibling pairs

scientific article

μ-Opioid receptor gene (OPRM1) polymorphism A118G: lack of association in Finnish populations with alcohol dependence or alcohol consumption

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