Daniah Trabzuni

London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 42 publications

Systematic visualisation of molecular QTLs reveals variant mechanisms at GWAS loci.

Systematic visualisation of molecular QTLs reveals variant mechanisms at GWAS loci.

Journal: bioRxiv : the preprint server for biology
Published: April 17, 2023

eQTL Catalogue 2023: New datasets, X chromosome QTLs, and improved detection and visualisation of transcript-level QTLs.

eQTL Catalogue 2023: New datasets, X chromosome QTLs, and improved detection and visualisation of transcript-level QTLs.

Journal: PLoS genetics
Published: April 17, 2023

Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci.

Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci.

Journal: Brain : a journal of neurology
Published: November 12, 2021

Comparison Between Expression Microarrays and RNA-Sequencing Using UKBEC Dataset Identified a trans-eQTL Associated with MPZ Gene in Substantia Nigra.

Comparison Between Expression Microarrays and RNA-Sequencing Using UKBEC Dataset Identified a trans-eQTL Associated with MPZ Gene in Substantia Nigra.

Journal: Frontiers in neurology and neuroscience research
Published: July 29, 2021

Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets.

Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets.

Journal: JAMA neurology
Published: February 01, 2021

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

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

Journal: Scientific reports
Published: October 01, 2020

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.

Journal: Brain : a journal of neurology
Published: April 27, 2020

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

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

Journal: Nature communications
Published: April 05, 2019

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

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

Journal: Scientific reports
Published: February 27, 2019

Insights into the Influence of Specific Splicing Events on the Structural Organization of LRRK2.

Insights into the Influence of Specific Splicing Events on the Structural Organization of LRRK2.

Journal: International journal of molecular sciences
Published: August 14, 2018

Transcriptomic and genetic analyses reveal potential causal drivers for intractable partial epilepsy.

Transcriptomic and genetic analyses reveal potential causal drivers for intractable partial epilepsy.

Journal: Brain : a journal of neurology
Published: April 03, 2018

Increased brain expression of GPNMB is associated with genome wide significant risk for Parkinson's disease on chromosome 7p15.3.

Increased brain expression of GPNMB is associated with genome wide significant risk for Parkinson's disease on chromosome 7p15.3.

Journal: Neurogenetics
Published: January 11, 2017
Showing 1-12 of 42

Last Updated: 09/26/2026