Nature Search

Genomics yields biological and phenotypic insights into bipolar disorder

Using multi-ancestry genome-wide association study and fine-mapping, 298 loci and 36 credible genes are identified in the aetiology of bipolar disorder.

Kevin S. O’Connell
Maria Koromina
Dan Siskind
Research22 Jan 2025
Nature

Volume: 639, P: 968-975
Rare loss-of-function variants in HECTD2 and AKAP11 confer risk of bipolar disorder

Analysis of whole-genome sequencing data from Iceland and the UK Biobank identifies an excess burden of rare loss-of-function variants in HECTD2 and AKAP11 in individuals diagnosed with bipolar disorder.

Thorgeir E. Thorgeirsson
Vinicius Tragante
Kari Stefansson
ResearchOpen Access25 Mar 2025
Nature Genetics

Volume: 57, P: 851-855
Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

Genome-wide association analyses of 41,917 bipolar disorder cases and 371,549 controls of European ancestry provide new insights into the etiology of this disorder and identify novel therapeutic leads and potential opportunities for drug repurposing.

Niamh Mullins
Andreas J. Forstner
Ole A. Andreassen
Research17 May 2021
Nature Genetics

Volume: 53, P: 817-829
Large recurrent microdeletions associated with schizophrenia

The genetics of schizophrenia and other mental disorders are complex and poorly understood, and made even harder to study due to reduced reproduction resulting in negative selection pressure on risk alleles. Two independent large-scale genome wide studies of thousands of patients and controls by two international consortia confirm a previously identified locus, but also reveal novel associations. In this study, de novo (spontaneous) copy number variants are reported on chromosomes 1 and 15.

Hreinn Stefansson
Dan Rujescu
Kari Stefansson
Research11 Sept 2008
Nature

Volume: 455, P: 232-236
Common variants conferring risk of schizophrenia

Here, in the first of three papers on the genetics of schizophrenia, a genome-wide association study of single nucleotide polymorphisms using data from several large genome-wide scans reveals significant associations to individual loci that implicate perturbations in immunity, brain development, memory and cognition in the predisposition to schizophrenia.

Hreinn Stefansson
Roel A. Ophoff
David A. Collier
Research01 Jul 2009
Nature

Volume: 460, P: 744-747
CNVs conferring risk of autism or schizophrenia affect cognition in controls

Rare copy-number variants (CNVs) conferring risk of schizophrenia or autism affect fecundity of carriers in Iceland, and carriers of these CNVs who do not suffer disease or have not been diagnosed with intellectual disability show phenotypes in brain structure and cognitive abilities between those of non-carrier controls and patients with schizophrenia.

Hreinn Stefansson
Andreas Meyer-Lindenberg
Kari Stefansson
Research18 Dec 2013
Nature

Volume: 505, P: 361-366
Truncating mutations in RBM12 are associated with psychosis

Kari Stefansson and colleagues identify a nonsense mutation in RBM12 segregating with psychosis in an extended Icelandic pedigree and an independent frameshift mutation in RBM12 segregating with psychosis in a Finnish family. They further show that carriers of the Icelandic mutation who are unaffected by psychosis exhibit a psychiatric disorder and cognitive test battery profile resembling that of patients with schizophrenia.

Stacy Steinberg
Steinunn Gudmundsdottir
Kari Stefansson
Research19 Jun 2017
Nature Genetics

Volume: 49, P: 1251-1254
Support for involvement of the AHI1 locus in schizophrenia

Andres Ingason
Thordur Sigmundsson
Hreinn Stefansson
Research02 May 2007
European Journal of Human Genetics

Volume: 15, P: 988-991
Effects of Iron Supplementation on Auditory Brainstem Response in Marginally LBW Infants

Staffan K Berglund
Björn Westrup
Magnus Domellöf
Research01 Dec 2011
Pediatric Research

Volume: 70, P: 601-606
Assessment of turbulent viscous stress using ICOSA 4D Flow MRI for prediction of hemodynamic blood damage

Hojin Ha
Jonas Lantz
Tino Ebbers
ResearchOpen Access22 Dec 2016
Scientific Reports

Volume: 6, P: 1-14
Novel variants in Nordic patients referred for genetic testing of telomere-related disorders

Anna Norberg
Anna Rosén
Magnus Hultdin
Research26 Feb 2018
European Journal of Human Genetics

Volume: 26, P: 858-867
Hematopoietic cellular aging is not accelerated during the first 2 years of life in children born preterm

Ewa Henckel
Mattias Landfors
Kajsa Bohlin
Research13 Mar 2020
Pediatric Research

Volume: 88, P: 903-909

Search

Genomics yields biological and phenotypic insights into bipolar disorder

Rare loss-of-function variants in HECTD2 and AKAP11 confer risk of bipolar disorder

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

Large recurrent microdeletions associated with schizophrenia

Common variants conferring risk of schizophrenia

CNVs conferring risk of autism or schizophrenia affect cognition in controls

Truncating mutations in RBM12 are associated with psychosis

Support for involvement of the AHI1 locus in schizophrenia

Effects of Iron Supplementation on Auditory Brainstem Response in Marginally LBW Infants

Assessment of turbulent viscous stress using ICOSA 4D Flow MRI for prediction of hemodynamic blood damage

Novel variants in Nordic patients referred for genetic testing of telomere-related disorders

Hematopoietic cellular aging is not accelerated during the first 2 years of life in children born preterm

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