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Lista de obras de Kári Stefánsson

1227Familiality of fatal measles infections in Iceland, 1882. Analysis of a reconstructed patient cohort from a major epidemic.

artículo científico publicado en 2014

15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia

artículo científico publicado en 2017

1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans

artículo científico publicado en 2021

A 70-kd polypeptide secreted by human peripheral blood mononuclear cells that suppresses proliferation of a human glioblastoma cell line

artículo científico publicado en 1988

A Common Variant on Chromosome 9p21 Affects the Risk of Myocardial Infarction

A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma

artículo científico publicado en 2011

A Missense Variant in PLEC Increases Risk of Atrial Fibrillation

artículo científico publicado en 2017

A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease

artículo científico publicado en 2015

A catalog of genetic loci associated with kidney function from analyses of a million individuals

scientific article published on 31 May 2019

A common biological basis of obesity and nicotine addiction

artículo científico publicado en 2013

A common inversion under selection in Europeans

artículo científico publicado en 2005

A common variant associated with prostate cancer in European and African populations

artículo científico publicado en 2006

A common variant at 8q24.21 is associated with renal cell cancer.

artículo científico publicado en 2013

A common variant on chromosome 9p21 affects the risk of myocardial infarction

artículo científico publicado en 2007

A direct characterization of human mutation based on microsatellites

artículo científico publicado en 2012

A drastic reduction in the life span of cystatin C L68Q carriers due to life-style changes during the last two centuries

artículo científico publicado en 2008

A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillation

artículo científico publicado en 2016

A genetic risk factor for periodic limb movements in sleep

artículo científico publicado en 2007

A genome-wide association search for type 2 diabetes genes in African Americans

artículo científico publicado en 2012

A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22

scientific journal article

A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24.

artículo científico publicado en 2010

A genome-wide association study of early menopause and the combined impact of identified variants

artículo científico publicado en 2013

A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma

artículo científico publicado en 2009

A genome-wide association study yields five novel thyroid cancer risk loci

artículo científico publicado en 2017

A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus

artículo científico publicado en 2013

A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome

artículo científico publicado en 2022

A genome-wide study of allelic imbalance in human testicular germ cell tumors using microsatellite markers

A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

artículo científico publicado en 2011

A high-resolution recombination map of the human genome

artículo científico publicado en 2002

A large-scale genome-wide association study meta-analysis of cannabis use disorder

artículo científico publicado en 2020

A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis

scientific article published on 14 January 2019

A major susceptibility gene for asthma maps to chromosome 14q24

artículo científico publicado en 2002

A mega-analysis of genome-wide association studies for major depressive disorder

artículo científico publicado en 2012

A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip

artículo científico publicado en 2014

A method for detecting long non-coding RNAs with tiled RNA expression microarrays

artículo científico publicado en 2014

A mouse model that recapitulates cardinal features of the 15q13.3 microdeletion syndrome including schizophrenia- and epilepsy-related alterations

artículo científico publicado en 2013

A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci

scientific journal article

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

artículo científico publicado en 2012

A novel MALDI-TOF based methodology for genotyping single nucleotide polymorphisms

artículo científico publicado en 2003

A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration)

artículo científico publicado en 2004

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 rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma

artículo científico publicado en 2017

A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta

artículo científico publicado en 2018

A rare missense variant in associates with lower cholesterol levels

article published in 2018

A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration

article by Hannes Helgason et al published 15 September 2013 in Nature Genetics

A rare splice donor mutation in the haptoglobin gene associates with blood lipid levels and coronary artery disease

artículo científico publicado en 2017

A rare variant in MYH6 is associated with high risk of sick sinus syndrome

artículo científico publicado en 2011

A sequence variant associated with sortilin-1 (SORT1) on 1p13.3 is independently associated with abdominal aortic aneurysm

artículo científico publicado en 2013

A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer

artículo científico publicado en 2010

A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke

artículo científico publicado en 2009

A sequence variant on 17q21 is associated with age at onset and severity of asthma

artículo científico publicado en 2010

A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer

artículo científico publicado en 2012

A susceptibility gene for psoriatic arthritis maps to chromosome 16q: evidence for imprinting

artículo científico publicado en 2002

A systematic evaluation of 151 candidate genes for their association with osteoporosis and osteoporotic fracture in a meta-analysis of genome-wide association data

article

A variant in CDKAL1 influences insulin response and risk of type 2 diabetes

artículo científico publicado en 2007

A variant in FTO shows association with melanoma risk not due to BMI

artículo científico publicado en 2013

A variant in MCF2L is associated with osteoarthritis

artículo científico publicado en 2011

A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarction

artículo científico publicado en 2005

ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma

artículo científico publicado en 2008

Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1

artículo científico publicado en 2011

Abstract 889: An analysis of single nucleotide polymorphisms of 125 DNA repair genes in the Texas genome-wide association study of lung cancer with a replication for theXRCC4SNPs

article

Abstract 942: Imputation from The 1000 Genomes Project identifies rare large effect variants of BRCA2-K3326X and CHEK2-I157T as risk factors for lung cancer; a study from the TRICL consortium

article published in 2014

Addictions and their familiality in Iceland

artículo científico publicado en 2010

Adiposity-Dependent Regulatory Effects on Multi-tissue Transcriptomes

artículo científico publicado en 2016

An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans

artículo científico publicado en 2017

An Icelandic saga on a centralized healthcare database and democratic decision making

artículo científico publicado en 1999

An alternatively spliced region of the human hexabrachion contains a repeat of potential N-glycosylation sites

artículo científico publicado en 1989

An analysis of single nucleotide polymorphisms of 125 DNA repair genes in the Texas genome-wide association study of lung cancer with a replication for the XRCC4 SNPs

artículo científico publicado en 2011

Analysis of potential protein-modifying variants in 9000 endometriosis patients and 150000 controls of European ancestry

artículo científico publicado en 2017

Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus

artículo científico publicado en 2010

Ancient genomes from Iceland reveal the making of a human population

artículo científico publicado en 2018

Androgenetic Alopecia: Identification of Four Genetic Risk Loci and Evidence for the Contribution of WNT Signaling to Its Etiology

article

Antagonists of the EP3 receptor for prostaglandin E2 are novel antiplatelet agents that do not prolong bleeding

artículo científico publicado en 2009

Anxiety with panic disorder linked to chromosome 9q in Iceland

artículo científico publicado en 2003

Apolipoprotein(a) genetic sequence variants associated with systemic atherosclerosis and coronary atherosclerotic burden but not with venous thromboembolism

artículo científico publicado en 2012

Assessing population differentiation and isolation from single-nucleotide polymorphism data

article by George Nicholson et al published October 2002 in Journal of the Royal Statistical Society Series B: Statistical Methodology

Assessing thyroid cancer risk using polygenic risk scores

artículo científico publicado en 2020

Assessment of gene-by-sex interaction effect on bone mineral density

artículo científico publicado en 2012

Assessment of osteoarthritis candidate genes in a meta-analysis of nine genome-wide association studies

artículo científico publicado en 2014

Association Between IL-1 β /TNF- α –Induced Glucocorticoid-Sensitive Changes in Multiple Gene Expression and Altered Responsiveness in Airway Smooth Muscle ⬇️

artículo científico publicado el 1 de diciembre de 2001

Association Study of Nonsynonymous Single Nucleotide Polymorphisms in Schizophrenia

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

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

artículo científico publicado en 2010

Association analysis of 29,956 individuals confirms that a low-frequency variant at CCND2 halves the risk of type 2 diabetes by enhancing insulin secretion

artículo científico publicado en 2015

Association between microdeletion and microduplication at 16p11.2 and autism

artículo científico publicado en 2008

Association between the gene encoding 5-lipoxygenase-activating protein and stroke replicated in a Scottish population

artículo científico publicado en 2005

Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort

artículo científico publicado en 2015

Association of Whole-Genome and NETRIN1 Signaling Pathway–Derived Polygenic Risk Scores for Major Depressive Disorder and White Matter Microstructure in the UK Biobank

scholarly article by Miruna C. Barbu et al published July 2018 in Biological Psychiatry: Cognitive Neuroscience and Neuroimaging

Association of a novel functional promoter variant (rs2075533 C>T) in the apoptosis gene TNFSF8 with risk of lung cancer--a finding from Texas lung cancer genome-wide association study

artículo científico publicado en 2011

Association of folate-pathway gene polymorphisms with the risk of prostate cancer: a population-based nested case-control study, systematic review, and meta-analysis

artículo científico publicado en 2009

Association of neuregulin 1 with schizophrenia confirmed in a Scottish population

artículo científico publicado en 2003

Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases

scientific journal article

Association of vitamin D binding protein variants with chronic mucus hypersecretion in Iceland

artículo científico

Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use

artículo científico publicado en 2019

Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019

Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder ⬇️

scientific article published on 17 October 2019

Author Correction: GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study

artículo científico publicado en 2019

Author Correction: Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis

artículo científico publicado en 2018

Author Correction: Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk

scientific article published on 01 March 2020

Author Correction: Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma

artículo científico publicado en 2019

Author Correction: Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition

article

Binding of hexabrachions to heparin and DNA.

artículo científico publicado en 1989

Biological, clinical and population relevance of 95 loci for blood lipids

artículo científico publicado en 2010

Blocking the EP3 receptor for PGE2 with DG-041 decreases thrombosis without impairing haemostatic competence

artículo científico publicado en 2013

Brain age prediction using deep learning uncovers associated sequence variants

scientific article published on 27 November 2019

CDKN2A mutations and melanoma risk in the Icelandic population

artículo científico publicado en 2008

CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD

artículo científico publicado en 2006

CNVs conferring risk of autism or schizophrenia affect cognition in controls

artículo científico publicado en 2013

COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA.

artículo científico publicado en 2017

Cancer as a complex phenotype: pattern of cancer distribution within and beyond the nuclear family

artículo científico publicado en 2004

Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome

artículo científico publicado en 2015

Characterizing mutagenic effects of recombination through a sequence-level genetic map

artículo científico publicado en 2019

Circulating autoantibodies to the 200,000-dalton protein of neurofilaments in the serum of healthy individuals

artículo científico publicado en 1985

Clinical characteristics of patients with colorectal cancer with double somatic mismatch repair mutations compared with Lynch syndrome

scientific article published on 15 March 2019

Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly

artículo científico publicado en 2017

Cloning of cDNA for two large polypeptides found in myelinating oligodendrocytes

artículo científico publicado en 1988

Collaborative meta-analysis: associations of 150 candidate genes with osteoporosis and osteoporotic fracture

artículo científico publicado en 2009

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 and low-frequency variants associated with genome-wide recombination rate

artículo científico publicado en 2013

Common and rare variants associated with kidney stones and biochemical traits

artículo científico publicado en 2015

Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase

artículo científico publicado en 2016

Common genetic variants associated with open-angle glaucoma

artículo científico publicado en 2011

Common risk variants identified in autism spectrum disorder

Common sequence variants associated with coronary artery disease correlate with the extent of coronary atherosclerosis

artículo científico publicado en 2015

Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma

artículo científico publicado en 2007

Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer

scientific journal article

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

artículo científico publicado en 2013

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways ⬇️

artículo científico publicado en 2010

Common variants at 19p13 are associated with susceptibility to ovarian cancer

artículo científico publicado en 2010

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

artículo científico publicado en 2011

Common variants at VRK2 and TCF4 conferring risk of schizophrenia

artículo científico publicado en 2011

Common variants conferring risk of schizophrenia

artículo científico publicado en 2009

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma

artículo científico publicado en 2010

Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration

artículo científico publicado en 2011

Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits

artículo científico publicado en 2008

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

artículo científico publicado en 2011

Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations

artículo científico publicado en 2009

Common variants on chromosome 5p12 confer susceptibility to estrogen receptor–positive breast cancer

Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer

artículo científico publicado en 2007

Common variants upstream of KDR encoding VEGFR2 and in TTC39B associate with endometriosis

artículo científico publicado en 2016

Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters

artículo científico publicado en 2017

Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.

artículo científico publicado en 2017

Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database

artículo científico publicado en 2012

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

artículo científico publicado en 2014

Contribution of ADAM33 polymorphisms to the population risk of asthma

artículo científico publicado en 2005

Convergent lines of evidence support CAMKK2 as a schizophrenia susceptibility gene

artículo científico publicado en 2013

Copy number variations of chromosome 16p13.1 region associated with schizophrenia

artículo científico publicado en 2009

Correction: Association of Variants at UMOD with Chronic Kidney Disease and Kidney Stones—Role of Age and Comorbid Diseases.

artículo científico publicado en 2010

Correction: Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution.

artículo científico publicado en 2009

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

Corrigendum to “A genome-wide association study identifies a common variant near the GPR22 gene as a new locus involved in prevalence and progression of osteoarthritis” [Bone. 44S2 (2009) S224]

article

Corrigendum: Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses

artículo científico publicado en 2016

Corrigendum: Rare coding variants and X-linked loci associated with age at menarche

artículo científico publicado en 2015

Corrigendum: Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

scholarly article published in Nature Genetics

Corrigendum: Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis.

artículo científico publicado en 2017

Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations

artículo científico publicado en 2016

DG-041 inhibits the EP3 prostanoid receptor--a new target for inhibition of platelet function in atherothrombotic disease

artículo científico publicado en 2008

DNA methylation as a mediator of HLA-DRB1*15:01 and a protective variant in multiple sclerosis.

artículo científico publicado en 2018

Defining the role of common variation in the genomic and biological architecture of adult human height

artículo científico publicado en 2014

Design of the Coronary ARtery DIsease Genome-Wide Replication And Meta-Analysis (CARDIoGRAM) Study: A Genome-wide association meta-analysis involving more than 22 000 cases and 60 000 controls

artículo científico publicado en 2010

Detection of sharing by descent, long-range phasing and haplotype imputation

artículo científico publicado en 2008

Determination of contiguity of subclones using the polymerase chain reaction

artículo científico publicado en 1988

Developmental changes in the molecular weights of polypeptides in the human CNS that carry the HNK-1 epitope and bind Phaseolus vulgaris lectins

artículo científico

Differences between germline genomes of monozygotic twins

artículo científico publicado en 2021

Discovery and Fine-Mapping of Glycaemic and Obesity-Related Trait Loci Using High-Density Imputation

artículo científico publicado en 2015

Discovery and refinement of loci associated with lipid levels

artículo científico publicado en 2013

Discovery of common variants associated with low TSH levels and thyroid cancer risk

scientific journal article

Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

artículo científico publicado en 2020

Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder

artículo científico publicado en 2018

Disentangling the genetics of lean mass

article

Disruption of the neurexin 1 gene is associated with schizophrenia

artículo científico publicado en 2009

Distribution of S-100 protein and glial fibrillary acidic protein in normal and gliotic human retina

scientific article published on 01 January 1984

Diversity in non-repetitive human sequences not found in the reference genome

artículo científico publicado en 2017

Effect of sequence variants on variance in glucose levels predicts type 2 diabetes risk and accounts for heritability.

artículo científico publicado en 2017

Effects of a 5-lipoxygenase-activating protein inhibitor on biomarkers associated with risk of myocardial infarction: a randomized trial

artículo científico publicado en 2005

Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis

scientific article published on 20 January 2020

Endometriosis is not associated with or linked to the GALT gene ⬇️

artículo científico publicado el 1 de noviembre de 2001

Epigenetic and genetic components of height regulation

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Erratum: Corrigendum: ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma

scholarly article published in Nature Genetics

Erratum: Corrigendum: Common variants at 19p13 are associated with susceptibility to ovarian cancer

scholarly article published in Nature Genetics

Erratum: Corrigendum: Genetic variants associated with subjective well-being, depressive symptoms and neuroticism identified through genome-wide analyses

article

Erratum: Corrigendum: Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer

article

Erratum: Corrigendum: Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes

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: Corrigendum: Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer

scholarly article published in Nature Genetics

Erratum: Corrigendum: The gene encoding phosphodiesterase 4D confers risk of ischemic stroke

article

Erratum: Corrigendum: Variant in the sequence of the LINGO1 gene confers risk of essential tremor

article

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

artículo científico publicado en 2017

Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

artículo científico publicado en 2011

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

artículo científico publicado en 2010

Ethics of population genomics research

artículo científico publicado en 1999

European bone mineral density loci are also associated with BMD in East-Asian populations

artículo científico publicado en 2010

European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene

artículo científico publicado en 2011

Evaluating differences in linkage disequilibrium between populations

artículo científico publicado en 2010

Evaluation of association of HNF1B variants with diverse cancers: collaborative analysis of data from 19 genome-wide association studies

artículo científico publicado en 2010

Evaluation of shared genetic aetiology between osteoarthritis and bone mineral density identifies SMAD3 as a novel osteoarthritis risk locus

artículo científico publicado en 2017

Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6

Expanding the range of ZNF804A variants conferring risk of psychosis

artículo científico publicado en 2010

FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease

artículo científico publicado en 2020

FTO genotype is associated with phenotypic variability of body mass index

artículo científico publicado en 2012

Familial aggregation of atrial fibrillation in Iceland

artículo científico publicado en 2006

Familial predisposition and cosegregation analysis of adult obstructive sleep apnea and the sudden infant death syndrome

artículo científico publicado en 2002

Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

artículo científico publicado en 2018

Fine-scale recombination rate differences between sexes, populations and individuals

artículo científico publicado en 2010

Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations

artículo científico publicado en 2017

GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study

artículo científico publicado en 2019

GPC5 rs2352028 variant and risk of lung cancer in never smokers

artículo científico publicado en 2010

GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

artículo científico publicado en 2019

GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer

artículo científico publicado en 2020

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

artículo científico publicado en 2015

Genealogy certainly matters for multifactorial genetic disease

artículo científico publicado en 1999

Genes contributing to risk for common forms of stroke

artículo científico publicado en 2005

Genetic approaches to assessing evidence for a T helper type 1 cytokine defect in adult asthma

artículo científico publicado en 2004

Genetic architecture of early childhood growth phenotypes gives insights into their link with later obesity

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

artículo científico publicado en 2014

Genetic correction of PSA values using sequence variants associated with PSA levels

artículo científico publicado en 2010

Genetic determinants of hair, eye and skin pigmentation in Europeans

artículo científico publicado en 2007

Genetic evidence of assortative mating in humans

scholarly article

Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes

artículo científico publicado en 2009

Genetic factors contribute to the risk of developing endometriosis

artículo científico publicado en 2002

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

artículo científico publicado en 2015

Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.

artículo científico publicado en 2018

Genetic loci and prioritization of genes for kidney function decline derived from a meta-analysis of 62 longitudinal genome-wide association studies

artículo científico publicado en 2022

Genetic meta-analysis identifies 9 novel loci and functional pathways for Alzheimers disease risk

Genetic overlap between Alzheimer's disease and Parkinson's disease at the MAPT locus

artículo científico publicado en 2015

Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women

scientific article published on 25 November 2020

Genetic predisposition to mosaic Y chromosome loss in blood is associated with genomic instability in other tissues and susceptibility to non-haematological cancers

Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies

artículo científico publicado en 2012

Genetic studies of body mass index yield new insights for obesity biology

artículo científico publicado en 2015

Genetic variants associated with mosaic Y chromosome loss highlight cell cycle genes and overlap with cancer susceptibility

artículo científico publicado en 2017

Genetic variants associated with platelet count are predictive of human disease and physiological markers

artículo científico publicado en 2021

Genetic variation at 16q24.2 is associated with small vessel stroke

artículo científico publicado en 2016

Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge

scientific journal article

Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer

artículo científico publicado en 2009

Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile

artículo científico publicado en 2011

Genetics of psoriasis in Iceland: evidence for linkage of subphenotypes to distinct Loci

artículo científico publicado en 2005

Genetics of smoking behavior and its consequences: the role of nicotinic acetylcholine receptors

artículo científico publicado en 2008

Genome-wide Association Study Identifies Genetic Variation in Neurocan as a Susceptibility Factor for Bipolar Disorder

artículo científico publicado en 2011

Genome-wide Association for Major Depression Through Age at Onset Stratification: Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium

artículo científico publicado en 2016

Genome-wide TDT analysis in a localized population with a high prevalence of multiple sclerosis indicates the importance of a region on chromosome 14q.

artículo científico publicado en 2003

Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders

artículo científico publicado en 2016

Genome-wide analysis identifies 12 loci influencing human reproductive behavior

artículo científico publicado en 2016

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

artículo científico publicado en 2014

Genome-wide analysis yields new loci associating with aortic valve stenosis

artículo científico publicado en 2018

Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets

artículo científico publicado en 2017

Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression

artículo científico publicado en 2018

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

artículo científico publicado en 2013

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

artículo científico publicado en 2013

Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM

artículo científico publicado en 2011

Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis

scholarly article by Johannes Waage et al published August 2018 in Nature Genetics

Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure

scientific article published on 09 January 2020

Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption

scientific journal article

Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility

artículo científico publicado en 2009

Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank

artículo científico publicado en 2020

Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria

artículo científico publicado en 2019

Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity

Genome-wide association meta-analysis yields 20 loci associated with gallstone disease

artículo científico publicado en 2018

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

artículo científico publicado en 2009

Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution

artículo científico publicado en 2009

Genome-wide association study across European and African American ancestries identifies a SNP in DNMT3B contributing to nicotine dependence

artículo científico publicado en 2017

Genome-wide association study identifies 30 loci associated with bipolar disorder.

artículo científico publicado en 2019

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 a second prostate cancer susceptibility variant at 8q24.

artículo científico publicado en 2007

Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm

scientific journal article

Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke

artículo científico publicado en 2012

Genome-wide association study identifies genetic variation in neurocan as a susceptibility factor for bipolar disorder

artículo científico publicado en 2011

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma

artículo científico publicado en 2011

Genome-wide association study identifies multiple susceptibility loci for multiple myeloma ⬇️

artículo científico publicado en 2016

Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche

artículo científico publicado en 2009

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

artículo científico publicado en 2011

Genome-wide association study implicates CHRNA2 in cannabis use disorder

artículo científico publicado en 2019

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

artículo científico publicado en 2010

Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

artículo científico publicado en 2021

Genome-wide association study of panic disorder reveals genetic overlap with neuroticism and depression

scientific article published on 11 November 2019

Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk

artículo científico publicado en 2011

Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer

artículo científico publicado en 2014

Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity

artículo científico publicado en 2009

Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA

scientific article published in Nature Communications

Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene

artículo científico publicado en 2010

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 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

artículo científico publicado en 2012

Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma

scientific article published on 10 February 2020

Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk

scholarly article by Iris E Jansen et al published March 2019 in Nature Genetics

Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer’s disease risk

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

artículo científico publicado en 2013

Genome-wide significant association between a sequence variant at 15q15.2 and lung cancer risk

artículo científico publicado en 2011

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

artículo científico publicado en 2014

Genomewide Scan for Hand Osteoarthritis: A Novel Mutation in Matrilin-3 ⬇️

artículo científico publicado el 7 de mayo de 2003

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

Geographic atrophy in age-related macular degeneration and TLR3.

artículo científico publicado en 2009

Geographic differences in genetic susceptibility to IgA nephropathy: GWAS replication study and geospatial risk analysis

artículo científico publicado en 2012

Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma

scientific journal article

HLA class II sequence variants influence tuberculosis risk in populations of European ancestry

artículo científico publicado en 2016

Heterozygote carriers for CNVs inPARK2are at increased risk of Parkinson's disease

scholarly article by Johanna Huttenlocher et al published 17 July 2015 in Human Molecular Genetics

Hundreds of variants clustered in genomic loci and biological pathways affect human height

artículo científico publicado en 2010

Identification of a large set of rare complete human knockouts

artículo científico publicado en 2015

Identification of a novel neuregulin 1 at-risk haplotype in Han schizophrenia Chinese patients, but no association with the Icelandic/Scottish risk haplotype

artículo científico publicado en 2004

Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of European ancestry

artículo científico publicado en 2016

Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes

artículo científico publicado en 2011

Identification of common genetic risk variants for autism spectrum disorder

artículo científico publicado en 2019

Identification of genetic overlap and novel risk loci for attention-deficit/hyperactivity disorder and bipolar disorder

scientific article published on 02 December 2019

Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality

artículo científico publicado en 2016

Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders

artículo científico publicado en 2013

Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes

artículo científico publicado en 2014

Identification of low-frequency variants associated with gout and serum uric acid levels

artículo científico publicado en 2011

Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma

scientific article published in Nature Communications

Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study ⬇️

artículo científico publicado el 3 de julio de 2012

Immunohistochemistry of Retinoblastomas in Humans ⬇️

artículo científico publicado el 1 de marzo de 1984

Impact of genetics on low bone mass in adults

artículo científico publicado en 2008

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies

artículo científico publicado en 2011

Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers

artículo científico publicado en 2012

Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls

artículo científico publicado en 2012

Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer

artículo científico publicado en 2016

Insights into imprinting from parent-of-origin phased methylomes and transcriptomes

Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study

artículo científico publicado en 2010

Interferon-gamma-induced oligodendrocyte cell death: implications for the pathogenesis of multiple sclerosis.

artículo científico publicado en 1995

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

artículo científico publicado en 2013

Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies

artículo científico publicado en 2010

Large genome-wide association study identifies three novel risk variants for restless legs syndrome

artículo científico publicado en 2020

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

artículo científico publicado en 2017

Large recurrent microdeletions associated with schizophrenia

artículo científico publicado en 2008

Large scale replication study of the association between HLA class II/BTNL2 variants and osteoarthritis of the knee in European-descent populations

artículo científico publicado en 2011

Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

artículo científico publicado en 2015

Large-scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip, knee, and hand

artículo científico publicado en 2009

Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways

artículo científico publicado en 2012

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

artículo científico publicado en 2011

Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes

artículo científico publicado en 2017

Large-scale association analysis identifies new risk loci for coronary artery disease

artículo científico publicado en 2012

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

artículo científico publicado en 2012

Large-scale genome-wide association meta-analysis of endometriosis reveals 13 novel loci and genetically-associated comorbidity with other pain conditions

Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria

artículo científico publicado en 2018

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

artículo científico publicado en 2015

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

artículo científico publicado en 2014

Large-scale whole-genome sequencing of the Icelandic population

artículo científico publicado en 2015

Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects

artículo científico publicado en 2018

Linkage of essential hypertension to chromosome 18q.

artículo científico publicado en 2002

Linkage of osteoporosis to chromosome 20p12 and association to BMP2

artículo científico publicado en 2003

Localization of a gene for peripheral arterial occlusive disease to chromosome 1p31.

artículo científico publicado en 2002

Localization of a susceptibility gene for common forms of stroke to 5q12

artículo científico publicado en 2002

Localization of a susceptibility gene for type 2 diabetes to chromosome 5q34-q35.2.

artículo científico publicado en 2003

Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits

artículo científico publicado en 2021

Loss of Cardioprotective Effects at the ADAMTS7 Locus as a Result of Gene-Smoking Interactions

artículo científico publicado en 2017

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

artículo científico publicado en 2014

Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease

artículo científico publicado en 2015

Loss-of-function variants in ATM confer risk of gastric cancer

artículo científico publicado en 2015

Male-pattern baldness susceptibility locus at 20p11.

artículo científico publicado en 2008

Many sequence variants affecting diversity of adult human height

artículo científico publicado en 2008

Mapping cis- and trans-regulatory effects across multiple tissues in twins

artículo científico publicado en 2012

Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness

artículo científico publicado en 2011

Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci ⬇️

artículo científico publicado en 2016

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

artículo científico publicado en 2012

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

artículo científico publicado en 2010

Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Meta-analysis of Alzheimer’s disease on 9,751 samples from Norway and IGAP study identifies four risk loci

scientific article published in Scientific Reports

Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis

scholarly article by Unnur Styrkarsdottir et al published 29 October 2018 in Nature Genetics

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

artículo científico publicado en 2008

Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22

artículo científico publicado en 2010

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

artículo científico publicado en 2014

Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization

artículo científico publicado en 2013

Meta‐Analysis of Genomewide Association Studies Reveals Genetic Variants for Hip Bone Geometry

artículo científico publicado en 2019

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

artículo científico publicado en 2011

Molecular benchmarks of a SARS-CoV-2 epidemic

artículo científico publicado en 2021

Molecular evolution of tau protein: implications for Alzheimer's disease.

artículo científico publicado en 1996

Monoclonal antibodies and lectins as probes for investigation of the cell biology of human trabecular meshwork: a preliminary report

artículo científico publicado en 1989

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction

scientific article published on 21 May 2020

Multi-nucleotide de novo Mutations in Humans

artículo científico publicado en 2016

Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

artículo científico publicado en 2018

Multiple genetic loci for bone mineral density and fractures

artículo científico publicado en 2008

Multiple novel transcription initiation sites for NRG1

artículo científico publicado en 2004

Multiple transmissions of de novo mutations in families

article

Mutations in BRIP1 confer high risk of ovarian cancer

artículo científico publicado en 2011

Myelin-associated glycoprotein in human retina ⬇️

artículo científico publicado el 9 de febrero de 1984

Nationwide study on hypertrophic cardiomyopathy in Iceland: evidence of a MYBPC3 founder mutation

artículo científico publicado en 2014

Neuregulin 1 and schizophrenia

artículo científico publicado en 2004

Neuregulin 1 and susceptibility to schizophrenia

artículo científico publicado en 2002

Neuregulin1 (NRG1) signaling through Fyn modulates NMDA receptor phosphorylation: differential synaptic function in NRG1+/- knock-outs compared with wild-type mice.

artículo científico publicado en 2007

Neuronal-specific enolase in human corneal endothelium and posterior keratocytes

artículo científico publicado en 1985

New basal cell carcinoma susceptibility loci

artículo científico publicado en 2015

New common variants affecting susceptibility to basal cell carcinoma

artículo científico publicado en 2009

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

artículo científico publicado en 2010

New genetic loci link adipose and insulin biology to body fat distribution

artículo científico publicado en 2015

New sequence variants associated with bone mineral density

artículo científico publicado en 2009

No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder

artículo científico publicado en 2011

Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits

artículo científico publicado en 2013

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

artículo científico publicado en 2012

On the replication of genetic associations: timing can be everything!

artículo científico publicado en 2008

PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity

artículo científico publicado en 2018

PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

article

Paraneoplastic myelopathy: antibodies against protein in normal spinal cord and underlying neoplasm

artículo científico publicado en 1985

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

artículo científico publicado en 2014

Parental influence on human germline de novo mutations in 1,548 trios from Iceland

artículo científico publicado en 2017

Parental origin of sequence variants associated with complex diseases

scientific article published on December 2009

Physical and neurobehavioral determinants of reproductive onset and success

artículo científico publicado en 2016

Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study

artículo científico publicado en 2012

Polygenic Overlap Between C-Reactive Protein, Plasma Lipids, and Alzheimer Disease

artículo científico publicado en 2015

Polygenic risk scores for schizophrenia and bipolar disorder associate with addiction

artículo científico publicado en 2017

Polygenic risk scores for schizophrenia and bipolar disorder predict creativity

artículo científico publicado en 2015

Population genomics of drug response

artículo científico publicado en 2004

Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis

scientific article published on 23 April 2020

Predicting the probability of death using proteomics

artículo científico publicado en 2021

Profiling of genes expressed in peripheral blood mononuclear cells predicts glucocorticoid sensitivity in asthma patients

artículo científico publicado en 2005

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

artículo científico publicado en 2017

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution

article

Psoriasis patients who are homozygous for the HLA-Cw*0602 allele have a 2.5-fold increased risk of developing psoriasis compared with Cw6 heterozygotes

artículo científico publicado en 2003

Publisher Correction: GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

scientific article published on 24 May 2019

Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

artículo científico publicado en 2019

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

artículo científico publicado en 2018

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

artículo científico publicado en 2018

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

artículo científico publicado en 2019

Publisher Correction: Shared heritability and functional enrichment across six solid cancers

scientific article published on 23 September 2019

Rare SCARB1 mutations associate with high-density lipoprotein cholesterol but not with coronary artery disease.

artículo científico publicado en 2018

Rare and low-frequency coding variants alter human adult height

artículo científico publicado en 2017

Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis

artículo científico publicado en 2010

Rare coding variants and X-linked loci associated with age at menarche

artículo científico publicado en 2015

Rare mutations associating with serum creatinine and chronic kidney disease

artículo científico publicado en 2014

Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer

scientific journal article

Rate of de novo mutations and the importance of father's age to disease risk

artículo científico publicado en 2012

Reciprocal White Matter Changes Associated With Copy Number Variation at 15q11.2 BP1-BP2: A Diffusion Tensor Imaging Study

Recombination rate and reproductive success in humans

artículo científico publicado en 2004

Recommendations for standardization and phenotype definitions in genetic studies of osteoarthritis: the TREAT-OA consortium

artículo científico publicado en 2010

Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

article

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes

artículo científico publicado en 2018

Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition

artículo científico publicado en 2018

Relatedness disequilibrium regression estimates heritability without environmental bias

article

Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium

artículo científico publicado en 2010

Replication study and meta-analysis in European samples supports association of the 3p21.1 locus with bipolar disorder

artículo científico publicado en 2012

Reproductive fitness and genetic risk of psychiatric disorders in the general population

artículo científico publicado en 2017

Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic stroke

artículo científico publicado en 2008

Roadmap for a precision-medicine initiative in the Nordic region

artículo científico publicado en 2019

Screen for CACNA1A and ATP1A2 Mutations in Sporadic Hemiplegic Migraine Patients

article

Selection against variants in the genome associated with educational attainment

scientific article published on 17 January 2017

Sequence variant at 4q25 near PITX2 associates with appendicitis

artículo científico publicado en 2017

Sequence variant at 8q24.21 associates with sciatica caused by lumbar disc herniation

artículo científico publicado en 2017

Sequence variant on 8q24 confers susceptibility to urinary bladder cancer

artículo científico publicado en 2008

Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction

artículo científico publicado en 2009

Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior

artículo científico publicado en 2010

Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption

artículo científico publicado en 2011

Sequence variants from whole genome sequencing a large group of Icelanders

artículo científico publicado en 2015

Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis

artículo científico publicado en 2017

Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density

scientific journal article

Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures

artículo científico publicado en 2016

Sequence variants in the RNF212 gene associate with genome-wide recombination rate

artículo científico publicado en 2008

Sequence variants with large effects on cardiac electrophysiology and disease

artículo científico publicado en 2019

Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density

artículo científico publicado en 2019

Seven new loci associated with age-related macular degeneration

artículo científico publicado en 2013

Seventy-five genetic loci influencing the human red blood cell

artículo científico publicado en 2012

Several common variants modulate heart rate, PR interval and QRS duration

article by Hilma Holm et al published 10 January 2010 in Nature Genetics

Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31.

artículo científico publicado en 2014

Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits

artículo científico publicado en 2013

Shared heritability and functional enrichment across six solid cancers

artículo científico publicado en 2019

Shared heritability and functional enrichment across six solid cancers

Sharing of antigenic determinants between the nicotinic acetylcholine receptor and proteins in Escherichia coli, Proteus vulgaris, and Klebsiella pneumoniae. Possible role in the pathogenesis of myasthenia gravis

scientific article published on 01 January 1985

Sharing of epitopes by bacteria and the nicotinic acetylcholine receptor: a possible role in the pathogenesis of myasthenia gravis

scientific article published on 01 January 1987

Single-tissue and cross-tissue heritability of gene expression via identity-by-descent in related or unrelated individuals

artículo científico publicado en 2011

Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases

artículo científico publicado en 2012

Species variations in distribution of S100 in retina. Demonstration with a monoclonal antibody and a polyclonal antiserum

artículo científico publicado en 1985

Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases

artículo científico publicado en 2012

Structure of the human hexabrachion (tenascin) gene ⬇️

artículo científico publicado el 1 de noviembre de 1991

Support for involvement of the AHI1 locus in schizophrenia

TCF4 (e2-2; ITF2): a schizophrenia-associated gene with pleiotropic effects on human disease

artículo científico publicado en 2012

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels

artículo científico publicado en 2019

The Adult Reading History Questionnaire (ARHQ) in Icelandic: Psychometric Properties and Factor Structure

artículo científico publicado en 2013

The BARD1 Cys557Ser variant and breast cancer risk in Iceland

artículo científico publicado en 2006

The CRP and GDNF genes do not contribute to apnea-hypopnea index or risk of obstructive sleep apnea

artículo científico publicado en 2011

The Hexabrachion Gene as a Candidate for a Tuberous Sclerosis Gene ⬇️

artículo científico publicado el 1 de enero de 1991

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 Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop

artículo científico publicado en 2009

The T-381C SNP in BNP gene may be modestly associated with type 2 diabetes: an updated meta-analysis in 49 279 subjects

artículo científico publicado en 2009

The association of a SNP upstream of INSIG2 with body mass index is reproduced in several but not all cohorts

artículo científico publicado en 2007

The chromosome 9p21 risk locus is associated with angiographic severity and progression of coronary artery disease

artículo científico publicado en 2010

The effect of SNPs on expression levels in Nimblegen RNA expression microarrays

artículo científico publicado en 2015

The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke

article

The gene encoding phosphodiesterase 4D confers risk of ischemic stroke

artículo científico publicado en 2003

The genealogic approach to human genetics of disease.

artículo científico publicado en 2001

The genetic spectrum of a population-based sample of familial hemiplegic migraine

artículo científico publicado en 2006

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

artículo científico publicado en 2016

The germline sequence variant rs2736100_C in TERT associates with myeloproliferative neoplasms

artículo científico publicado en 2014

The impact of divergence time on the nature of population structure: an example from Iceland

artículo científico publicado en 2009

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

artículo científico publicado en 2015

The mutation rate in the human mtDNA control region

artículo científico publicado en 2000

The nature of Neanderthal introgression revealed by 27,566 Icelandic genomes

scientific article published on 22 April 2020

The nature of nurture: Effects of parental genotypes

artículo científico publicado en 2018

The rate of meiotic gene conversion varies by sex and age.

artículo científico publicado en 2016

The role of adiposity in cardiometabolic traits: a Mendelian randomization analysis

artículo científico publicado en 2013

The role of linkage studies for common diseases

artículo científico publicado en 2001

The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm

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

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