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Nature|May 14, 2015
Recursive splicing in long vertebrate genesChristopher R Sibley, Warren Emmett, Lorea Blazquez, et al.American Journal of Human Genetics|December 4, 2012
Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesisGavin Charlesworth, Vincent Plagnol, Kira M Holmström, et al.BMC Medical Genetics|July 6, 2011
A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian populationFaiqa Imtiaz, Khalid Taibah, Khushnooda Ramzan, et al.Journal of Neurology, Neurosurgery, and Psychiatry|November 8, 2013
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophyArianna Tucci, Yo-Tsen Liu, Elisabeth Preza, et al.Nucleic Acids Research|February 26, 2013
Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studiesAdaikalavan Ramasamy, Daniah Trabzuni, J Raphael Gibbs, et al.Annals of Neurology|February 21, 2013
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystoniaJoshua Hersheson, Niccolo E Mencacci, Mary Davis, et al.Human Molecular Genetics|June 23, 2012
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathiesDaniah Trabzuni, Selina Wray, Jana Vandrovcova, et al.Nature Communications|February 27, 2020
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant informationSebastian Guelfi, Karishma D'Sa, Juan A Botía, et al.Plos Genetics|September 18, 2023
eQTL Catalogue 2023: New datasets, X chromosome QTLs, and improved detection and visualisation of transcript-level QTLsNurlan Kerimov, Ralf Tambets, James D Hayhurst, et al.Neurobiology of Disease|March 22, 2012
Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brainDena G Hernandez, Mike A Nalls, Matthew Moore, et al.Pageof 5