List of works by Hreinn Stefansson

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

scientific article

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

scientific article published on 22 March 2021

A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy

scientific article published on 16 April 2019

A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population.

scientific article published in March 2009

A common inversion under selection in Europeans

scientific article (publication date: February 2005)

A genetic risk factor for periodic limb movements in sleep

scientific article

A genome-wide scan for preeclampsia in the Netherlands

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

scientific article

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

scientific article published on 3 October 2013

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

scientific article

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

scientific article (publication date: May 2004)

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease

scientific article published on 7 December 2012

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease

scientific article published on 13 November 2013

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

scientific article

Addictions and their familiality in Iceland

scientific article

Association Study of Nonsynonymous Single Nucleotide Polymorphisms in Schizophrenia

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

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

scientific article

Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition

scientific article published on 30 October 2019

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 neuregulin 1 with schizophrenia confirmed in a Scottish population

scientific article

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

scientific article published on 17 October 2019

Brain age prediction using deep learning uncovers associated sequence variants

scientific article published on 27 November 2019

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

scientific article

CNVs conferring risk of autism or schizophrenia affect cognition in controls

scientific article (publication date: 18 December 2013)

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 risk variants identified in autism spectrum disorder

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

scientific article

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

scientific article (publication date: May 2011)

Common variants at VRK2 and TCF4 conferring risk of schizophrenia

scientific article published on 26 July 2011

Common variants conferring risk of schizophrenia

scientific article

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

scientific article published on 12 September 2010

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

scientific article published on 30 October 2011

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

scientific article published on September 2014

Convergent lines of evidence support CAMKK2 as a schizophrenia susceptibility gene

scientific article

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

scientific article published on 29 September 2009

Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

scientific article published on 01 March 2020

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

scientific article published in July 2017

Cutaneous melanoma in Iceland: changing Breslow's tumour thickness

scientific article published on 9 June 2014

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

scientific article published on 04 August 2013

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

scientific article

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

scientific article published on 26 November 2018

Disruption of the neurexin 1 gene is associated with schizophrenia

scientific article

Dissociation of accumulated genetic risk and disease severity in patients with schizophrenia

scientific article published on 4 October 2011

EHMTI-0377. The influence of genetic constitution on migraine drug responses.

scientific article published on 18 September 2014

EHMTI-0380. The association of migraine susceptibility loci with severe migraine characteristics in a clinic-based migraine sample.

scientific article published on 18 September 2014

Endometriosis is not associated with or linked to the GALT gene

article

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

scientific article published in October 2016

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

article

Evaluating differences in linkage disequilibrium between populations.

scientific article published in May 2010

Expanding the range of ZNF804A variants conferring risk of psychosis

scientific article published on 5 January 2010

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

scientific article published on 8 August 2017

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

scientific article published on 07 May 2019

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

scientific article published on 8 December 2015

Genetic factors contribute to the risk of developing endometriosis.

scientific article published in March 2002

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

scientific article

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

scientific article published in March 2011

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

scientific article published on 24 May 2016

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

scientific article published on 05 December 2016

Genome-wide analysis shows increased frequency of copy number variation deletions in Dutch schizophrenia patients

scientific article

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

scientific article published on 26 April 2018

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

scientific article published in October 2013

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

scientific article

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

scientific article published on 28 September 2020

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 genetic variation in neurocan as a susceptibility factor for bipolar disorder

scientific article

Genome-wide association study implicates CHRNA2 in cannabis use disorder

scientific article published on 17 June 2019

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

scientific article

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

scientific article published in June 2021

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

scientific article published on 11 November 2019

Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia

scientific article published on 24 October 2017

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

scientific article

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

article

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

scientific article published on 8 August 2017

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

How Can Pharmacogenomics Biomarkers Be Translated into Patient Benefit

Identification of a large set of rare complete human knockouts

scientific article

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

scientific article published in July 2004

Identification of common genetic risk variants for autism spectrum disorder

scientific article published on 25 February 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 low-frequency variants associated with gout and serum uric acid levels

scientific article published on 9 October 2011

Individualization of treatments with drugs metabolized by CES1: combining genetics and metabolomics.

scientific article

Infectious diseases and bioweapons. Science and political economics of affiction

scientific article

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

scientific article

Interrogating the Genetic Determinants of Tourette's Syndrome and Other Tic Disorders Through Genome-Wide Association Studies

scientific article published on 01 March 2019

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

scientific article published on 25 November 2020

Large recurrent microdeletions associated with schizophrenia

scientific article

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

scientific article (publication date: September 2014)

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

scientific article

MAP1B mutations cause intellectual disability and extensive white matter deficit

scientific article published in Nature Communications

Male-pattern baldness susceptibility locus at 20p11.

scientific article

Many sequence variants affecting diversity of adult human height

scientific article published in May 2008

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

scientific article

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

scientific article

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

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

scientific article

Multiple novel transcription initiation sites for NRG1

scientific article

Neuregulin 1 and schizophrenia

scientific article published on January 2004

Neuregulin 1 and susceptibility to schizophrenia

scientific article

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

scientific article published on April 2007

Neuroimaging Findings in Neurodevelopmental Copy Number Variants: Identifying Molecular Pathways to Convergent Phenotypes

scientific article published in 2022

New basal cell carcinoma susceptibility loci

scientific article

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

scientific article published on 8 June 2011

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

scientific article

Polygenic risk scores for schizophrenia and bipolar disorder associate with addiction

scientific article published on 23 February 2017

Polygenic risk scores for schizophrenia and bipolar disorder predict creativity

scientific article published on 8 June 2015

Predicting facial characteristics from complex polygenic variations

scientific article published on 17 August 2015

Psychometric properties of the Icelandic NEO-FFI in a general population sample compared to a sample recruited for a study on the genetics of addiction

scientific article published on February 2014

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

scientific article

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

Recurrent deletions of ULK4 in schizophrenia: a gene crucial for neuritogenesis and neuronal motility

scientific article

Replication and meta-analysis of common variants identifies a genome-wide significant locus in migraine.

scientific article published on 7 January 2013

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

scientific article

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

scientific article

Roadmap for a precision-medicine initiative in the Nordic region

scientific article published on 01 June 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 8q24.21 associates with sciatica caused by lumbar disc herniation

scientific article published on 22 February 2017

Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction

scientific article

Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior

scientific article

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

scientific article

Seven new loci associated with age-related macular degeneration

scientific article

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

scientific article

Support for involvement of the AHI1 locus in schizophrenia

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

scientific article

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

scientific article published in March 2013

The association between candidate migraine susceptibility loci and severe migraine phenotype in a clinical sample

scientific article

The biology of behaviour: scientific and ethical implications

scientific article published on July 2007

The cortical thickness phenotype of individuals with DISC1 translocation resembles schizophrenia

scientific article

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

scientific article published on 2 December 2006

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

scientific article published in June 2009

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

article

Truncating mutations in RBM12 are associated with psychosis

scientific article

Two dimensional electrophoresis of thylakoid membrane proteins and its application to microsequencing

scientific article published in September 1994

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

scientific article published on 13 August 2012

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

scholarly article by M. F. Keller et al published 5 May 2013 in Human Molecular Genetics

Using genome-wide complex trait analysis to quantify ‘missing heritability’ in Parkinson's disease

scientific article published on 14 February 2013

Variant in the sequence of the LINGO1 gene confers risk of essential tremor

scientific journal article

Variant of TREM2 Associated with the Risk of Alzheimer's Disease

scientific article

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

scientific article published on 20 March 2017

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