List of works - Clare L van Eyk

Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism.

scientific article published on 23 April 2018

Comparative toxicity of polyglutamine, polyalanine and polyleucine tracts in Drosophila models of expanded repeat disease.

scientific article published on 21 October 2011

Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment

scientific article published in 2024

Definition and diagnosis of cerebral palsy in genetic studies: a systematic review

scientific article published on 15 June 2020

Double-stranded RNA is pathogenic in Drosophila models of expanded repeat neurodegenerative diseases

scientific article

Erratum: Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy

scientific article published on 31 May 2019

Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy

scientific article published on 09 April 2019

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

scientific article published in 2022

Modeling and analysis of repeat RNA toxicity in Drosophila.

scientific article published in January 2013

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

scientific article published on 28 September 2020

Non-self mutation: double-stranded RNA elicits antiviral pathogenic response in a Drosophila model of expanded CAG repeat neurodegenerative diseases

scientific article published on 01 September 2019

Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy

article

Perturbation of the Akt/Gsk3-β signalling pathway is common to Drosophila expressing expanded untranslated CAG, CUG and AUUCU repeat RNAs.

scientific article

Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathway

scientific article published in 2024

RNA pathogenesis via Toll-like receptor-activated inflammation in expanded repeat neurodegenerative diseases

scientific article published on 05 September 2013

Targeted resequencing identifies genes with recurrent variation in cerebral palsy

scientific article published on 04 November 2019

The emerging genetic landscape of cerebral palsy.

scientific article published in January 2018

Ubiquitous expression of CUG or CAG trinucleotide repeat RNA causes common morphological defects in a Drosophila model of RNA-mediated pathology ⬇️

scientific article published on June 8, 2012

Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy

scientific article published on 10 February 2015

Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing

scientific article published on 16 September 2021

List of works by Clare L van Eyk