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Lista de obras de Aarno Palotie

2014 Curt Stern Award introduction: Mark Daly

artículo científico publicado en 2015

8q24 amplification in transitional cell carcinoma of bladder.

artículo científico publicado en 2003

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2022

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico publicado en 2008

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

A quality assessment survey of SNP genotyping laboratories

A reference panel of 64,976 haplotypes for genotype imputation

artículo científico publicado en 2016

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).

artículo científico publicado en 2004

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 2020

An immune response network associated with blood lipid levels

artículo científico publicado en 2010

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

artículo científico publicado en 2017

Analysis of Genetic Variation in the GenomEUtwin Project ⬇️

artículo científico publicado el 1 de octubre de 2003

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

artículo científico publicado el 1 de julio de 1997

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

artículo científico publicado en 2016

Analysis of shared heritability in common disorders of the brain

artículo científico publicado en 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

artículo científico publicado en 2003

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

artículo científico publicado en 2019

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

artículo científico publicado en 2003

Association of the timing of puberty with a chromosome 2 locus

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2002

CHD2 variants are a risk factor for photosensitivity in epilepsy

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2003

Chromosome 19p13 loci in Finnish migraine with aura families

artículo científico publicado en 2005

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

artículo científico publicado en 2021

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

artículo científico publicado en 2007

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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

Comorbidity in Finnish migraine families

artículo científico publicado en 2006

Comparison of GenFlex Tag Array and Pyrosequencing in SNP Genotyping ⬇️

artículo científico publicado el 1 de noviembre de 2003

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

artículo científico publicado en 2022

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

artículo científico publicado en 2014

Consistently replicating locus linked to migraine on 10q22-q23

artículo científico publicado en 2008

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2019

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

artículo científico publicado en 2003

De novo Variants In Neurodevelopmental Disorders With Epilepsy

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

De novo mutations in schizophrenia implicate synaptic networks

artículo científico publicado en 2014

De novo variants in neurodevelopmental disorders with epilepsy

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 2003

Diagnostic implications of genetic copy number variation in epilepsy plus

artículo científico publicado en 2019

Discovery and refinement of loci associated with lipid levels

artículo científico publicado en 2013

Disentangling the genetics of lean mass

article

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2009

Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

Evaluation of HapMap data in six populations of European descent

artículo científico publicado en 2008

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

artículo científico publicado en 2002

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

artículo científico publicado en 2017

Fiber-FISH: experiences and a refined protocol

artículo científico publicado en 1996

Finding disease candidate genes by liquid association

artículo científico publicado en 2007

Fine-Scale Genetic Structure in Finland

artículo científico publicado en 2017

Finland establishing the internet of genomics and health data

artículo científico publicado en 2017

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

artículo científico publicado en 2010

From genetic discovery to future personalized health research

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2020

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

artículo científico publicado en 2015

Genetic Associations with Gestational Duration and Spontaneous Preterm Birth

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2003

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

artículo científico publicado en 2019

Genetic associations of protein-coding variants in human disease

artículo científico publicado en 2022

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

artículo científico publicado en 2007

Genetic evidence of assortative mating in humans

article

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

Genetics of migraine.

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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.

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2022

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

artículo científico publicado en 2017

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

artículo científico publicado en 2020

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

artículo científico publicado en 2017

Genomic prediction of coronary heart disease

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2008

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

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado el 1 de agosto de 1997

IFITM3 restricts the morbidity and mortality associated with influenza

artículo científico publicado en 2012

Identification of common genetic risk variants for autism spectrum disorder

artículo científico publicado en 2019

Identification of molecular subtypes of glioblastoma by gene expression profiling

artículo científico publicado en 2003

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

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2021

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

artículo científico publicado en 2015

Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells

artículo científico publicado en 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.

artículo científico publicado en 2018

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

artículo científico publicado en 2022

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

Investigation of GRIN2A in common epilepsy phenotypes

artículo científico publicado en 2015

Involvement of astrocyte and oligodendrocyte gene sets in migraine

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Ki67, gelsolin and PTEN expression in sarcomatoid renal tumors.

artículo científico publicado en 2002

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

artículo científico publicado en 2004

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Lessons from studying monogenic disease for common disease

artículo científico publicado en 2006

MYO9B polymorphisms in multiple sclerosis

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

artículo científico publicado en 2022

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

artículo científico publicado en 2016

Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

Metabonomic, transcriptomic, and genomic variation of a population cohort

artículo científico publicado en 2010

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

artículo científico publicado en 2016

Migraine: a complex genetic disorder

artículo científico publicado en 2007

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

artículo científico publicado en 2014

Molecular pathology of aneurysms

artículo científico publicado en 2008

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

artículo científico publicado en 2009

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

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2003

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2008

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

artículo científico publicado en 2010

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

artículo científico

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

article

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

artículo científico publicado en 2012

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

PRKCA and multiple sclerosis: association in two independent populations

artículo científico publicado en 2006

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2011

Phenotypic Consequences of a Genetic Predisposition to Enhanced Nitric Oxide Signaling

artículo científico publicado en 2017

Pitfalls in genetic testing: the story of missed SCN1A mutations

artículo científico publicado en 2016

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

artículo científico publicado en 2019

Polygenic burden in focal and generalized epilepsies

artículo científico publicado en 2019

Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy

artículo científico publicado en 2011

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

Probing the brain of comorbidity

artículo científico publicado en 2013

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

artículo científico publicado en 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.

artículo científico publicado en 2016

Roadmap for a precision-medicine initiative in the Nordic region

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2022

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

artículo científico publicado en 2015

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

artículo científico publicado en 2020

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

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2018

Susceptibility loci for intracranial aneurysm in European and Japanese populations

artículo científico publicado en 2008

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

The Contribution of GWAS Loci in Familial Dyslipidemias

artículo científico publicado en 2016

The GENCODE exome: sequencing the complete human exome

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2020

The functional spectrum of low-frequency coding variation

artículo científico publicado en 2011

The future of technologies for personalised medicine

artículo científico publicado en 2012

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

artículo científico publicado en 2008

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

artículo científico publicado en 2015

The molecular genetics of migraine

artículo científico publicado en 2004

The role of the CD58 locus in multiple sclerosis

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico publicado en 2002

Toward a roadmap in global biobanking for health

artículo científico publicado en 2012

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

artículo científico publicado en 2015

Towards an understanding of genetic predisposition to migraine

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2005

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

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

artículo científico publicado en 2008

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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