List of works - Daniah Trabzuni

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia

scientific article

Age-associated changes in gene expression in human brain and isolated neurons

scientific article

Analysis of gene expression data using a linear mixed model/finite mixture model approach: application to regional differences in the human brain

scientific article

Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy

scientific article

Common genetic variants influence human subcortical brain structures

scientific article

Correction: Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue.

scientific article published on 27 January 2012

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

scientific article published on 06 September 2013

Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus

scientific article

Genome-wide human brain eQTLs: In-depth analysis and insights using the UKBEC dataset

scientific article published on 16 December 2019

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

scientific article

Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel

scientific article

Identification of common variants associated with human hippocampal and intracranial volumes

scientific article published on 15 April 2012

Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci

scientific article published on 30 January 2013

Insights into TREM2 biology by network analysis of human brain gene expression data

scientific article

Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain

scientific article

Investigating the utility of human embryonic stem cell-derived neurons to model ageing and neurodegenerative disease using whole-genome gene expression and splicing analysis

scientific article published on 10 July 2012

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

scientific article

MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration

scientific article published on 19 May 2021

Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis

scientific article

Mutations in HPCA cause autosomal-recessive primary isolated dystonia

scientific article

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

scientific article

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

scientific article

Novel genetic loci associated with hippocampal volume

scientific article published on 18 January 2017

Novel genetic loci underlying human intracranial volume identified through genome-wide association

scientific article (publication date: 3 October 2016)

Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue

scientific article

Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies

scientific article

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

scientific article

Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

scientific article published on 25 February 2020

Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies

scientific article published on 21 February 2013

The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

scientific article

Widespread sex differences in gene expression and splicing in the adult human brain

scientific article published on January 2013

List of works by Daniah Trabzuni

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia

Age-associated changes in gene expression in human brain and isolated neurons

Analysis of gene expression data using a linear mixed model/finite mixture model approach: application to regional differences in the human brain

Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy

Common genetic variants influence human subcortical brain structures

Correction: Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue.

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus

Genome-wide human brain eQTLs: In-depth analysis and insights using the UKBEC dataset

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

Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel

Identification of common variants associated with human hippocampal and intracranial volumes

Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci

Insights into TREM2 biology by network analysis of human brain gene expression data

Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain

Investigating the utility of human embryonic stem cell-derived neurons to model ageing and neurodegenerative disease using whole-genome gene expression and splicing analysis

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration

Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis

Mutations in HPCA cause autosomal-recessive primary isolated dystonia

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

Novel genetic loci associated with hippocampal volume

Novel genetic loci underlying human intracranial volume identified through genome-wide association

Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissue

Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies

The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

Widespread sex differences in gene expression and splicing in the adult human brain