Nature Search

Transcriptome-wide association study reveals increased neuronal FLT3 expression is associated with Tourette’s syndrome

Calwing Liao and Veikko Vuokila et al. report a transcriptome-wide association study (TWAS) of Tourette’s Syndrome. They find increased expression of FLT3 in the dorsolateral prefrontal cortex and the lymphoblastoid cell lines in patients with Tourette’s Syndrome, and report dysregulation of FLT3 across several brain regions.

Calwing Liao
Veikko Vuokila
Guy A. Rouleau
ResearchOpen Access30 Mar 2022
Communications Biology

Volume: 5, P: 1-6
Mapping the genetic landscape across 14 psychiatric disorders

Genomic analyses applied to 14 childhood- and adult-onset psychiatric disorders identifies five underlying genomic factors that explain the majority of the genetic variance of the individual disorders.

Andrew D. Grotzinger
Josefin Werme
Jordan W. Smoller
ResearchOpen Access10 Dec 2025
Nature

Volume: 649, P: 406-415
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
Transcriptome-wide association study of attention deficit hyperactivity disorder identifies associated genes and phenotypes

A recent GWAS reported 12 genetic loci for attention deficit/hyperactivity disorder (ADHD). Here, Liao et al. perform transcriptomic imputation using these data and 12 brain-relevant tissues from GTEx and CMC to identify 9 genes associated with ADHD by TWAS, 3 of which had not yet been reported for ADHD.

Calwing Liao
Alexandre D. Laporte
Guy A. Rouleau
ResearchOpen Access01 Oct 2019
Nature Communications

Volume: 10, P: 1-7
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
Transcriptome-wide association study for restless legs syndrome identifies new susceptibility genes

Fulya Akçimen et al. report a transcriptome-wide association study of restless legs syndrome using publicly available data from genome-wide association studies and gene expression data from GTEx. They find significant associations at 8 loci, 6 of which are novel and one of which implicates dopaminergic pathway.

Fulya Akçimen
Faezeh Sarayloo
Guy A. Rouleau
ResearchOpen Access10 Jul 2020
Communications Biology

Volume: 3, P: 1-5
Lithium partially rescues gene expression and enhancer activity from heterozygous knockout of AKAP11 while inducing novel differential changes

Nargess Farhangdoost
Alessia Pietrantonio
Guy A. Rouleau
ResearchOpen Access29 Oct 2025
Scientific Reports

Volume: 15, P: 1-15
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

In this largest whole-exome sequencing study of epilepsies to date, the Epi25 Collaborative identified extremely rare variants that confer risk for diverse epilepsy subtypes, highlighting roles in synaptic transmission and neuronal excitability.

Siwei Chen
Bassel W. Abou-Khalil
Samuel F. Berkovic
Research03 Oct 2024
Nature Neuroscience

Volume: 27, P: 1864-1879
Tutorial: guidelines for quality filtering of whole-exome and whole-genome sequencing data for population-scale association analyses

In this Tutorial, the authors provide guidelines for quality control of whole-exome and whole-genome sequencing data for population-scale association analyses. They explain how to filter samples and variants, and compare commonly used software programs for quality control of sequencing data.

Julia M. Sealock
Franjo Ivankovic
Benjamin M. Neale
Reviews28 Mar 2025
Nature Protocols

Volume: 20, P: 2372-2382
Transcriptomic effects of propranolol and primidone converge on molecular pathways relevant to essential tremor

Charles-Etienne Castonguay
Calwing Liao
Guy A. Rouleau
ResearchOpen Access04 Aug 2022
npj Genomic Medicine

Volume: 7, P: 1-13
Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains

Genome-wide analyses identify 27 loci associated with attention-deficit hyperactivity disorder and provide insights into its genetic architecture in relation to other psychiatric disorders and cognitive traits.

Ditte Demontis
G. Bragi Walters
Anders D. Børglum
Research26 Jan 2023
Nature Genetics

Volume: 55, P: 198-208
Risk variants and polygenic architecture of disruptive behavior disorders in the context of attention-deficit/hyperactivity disorder

ADHD is often found to be comorbid with disruptive behavior disorders, but the genetic loci underlying this comorbidity are unknown. Here, the authors have performed a GWAS meta-analysis of ADHD with disruptive behavior disorders, finding three genome-wide significant loci in Europeans, and replicating one in a Chinese cohort.

Ditte Demontis
Raymond K. Walters
Anders D. Børglum
ResearchOpen Access25 Jan 2021
Nature Communications

Volume: 12, P: 1-12
Transcriptomic and epigenomic consequences of heterozygous loss-of-function mutations in AKAP11, a shared risk gene for bipolar disorder and schizophrenia

Nargess Farhangdoost
Calwing Liao
Guy A. Rouleau
Research02 May 2025
Molecular Psychiatry

Volume: 30, P: 4543-4557
Influence of polygenic risk scores for schizophrenia and resilience on the cognition of individuals at-risk for psychosis

Qin He
Célia Jantac Mam-Lam-Fook
Boris Chaumette
ResearchOpen Access09 Oct 2021
Translational Psychiatry

Volume: 11, P: 1-9
Author Correction: Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains

Ditte Demontis
G. Bragi Walters
Anders D. Børglum
Amendments and Corrections01 Mar 2023
Nature Genetics

Volume: 55, P: 730
Author Correction: Risk variants and polygenic architecture of disruptive behavior disorders in the context of attention-deficit/hyperactivity disorder

Ditte Demontis
Raymond K. Walters
Anders D. Børglum
Amendments and CorrectionsOpen Access15 Feb 2021
Nature Communications

Volume: 12, P: 1
Defining suicidality phenotypes for genetic studies: perspectives of the Psychiatric Genomics Consortium Suicide Working Group

Sarah M. C. Colbert
Eric T. Monson
Lea Zillich
ReviewsOpen Access25 Sept 2025
Molecular Psychiatry

Volume: 30, P: 6144-6154

Search

Transcriptome-wide association study reveals increased neuronal FLT3 expression is associated with Tourette’s syndrome

Mapping the genetic landscape across 14 psychiatric disorders

Genomics yields biological and phenotypic insights into bipolar disorder

Transcriptome-wide association study of attention deficit hyperactivity disorder identifies associated genes and phenotypes

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

Transcriptome-wide association study for restless legs syndrome identifies new susceptibility genes

Lithium partially rescues gene expression and enhancer activity from heterozygous knockout of AKAP11 while inducing novel differential changes

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

Tutorial: guidelines for quality filtering of whole-exome and whole-genome sequencing data for population-scale association analyses

Transcriptomic effects of propranolol and primidone converge on molecular pathways relevant to essential tremor

Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains

Risk variants and polygenic architecture of disruptive behavior disorders in the context of attention-deficit/hyperactivity disorder

Transcriptomic and epigenomic consequences of heterozygous loss-of-function mutations in AKAP11, a shared risk gene for bipolar disorder and schizophrenia

Influence of polygenic risk scores for schizophrenia and resilience on the cognition of individuals at-risk for psychosis

Author Correction: Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains

Author Correction: Risk variants and polygenic architecture of disruptive behavior disorders in the context of attention-deficit/hyperactivity disorder

Defining suicidality phenotypes for genetic studies: perspectives of the Psychiatric Genomics Consortium Suicide Working Group

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