Dani L. Webber
Adelaide, SA, Australia
Last Updated: 09/26/2026
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Found 12 publications
Drosophila melanogaster models of MPS IIIC (Hgsnat-deficiency) highlight the role of glia in disease presentation.
Journal: Journal of inherited metabolic disease
Published: October 03, 2023
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 23, 2022
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Journal: American journal of human genetics
Published: May 28, 2021
Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.
Journal: NPJ genomic medicine
Published: April 27, 2021
Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Journal: Nature genetics
Published: January 12, 2021
Definition and diagnosis of cerebral palsy in genetic studies: a systematic review.
Journal: Developmental medicine and child neurology
Published: April 23, 2020
Erratum: Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.
Journal: NPJ genomic medicine
Published: June 25, 2019
Targeted resequencing identifies genes with recurrent variation in cerebral palsy.
Journal: NPJ genomic medicine
Published: April 02, 2019
Non-self mutation: double-stranded RNA elicits antiviral pathogenic response in a Drosophila model of expanded CAG repeat neurodegenerative diseases.
Journal: Human molecular genetics
Published: February 22, 2019
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Journal: Nature genetics
Published: January 24, 2019
Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.
Journal: NPJ genomic medicine
Published: September 10, 2018
Neuronal-specific impairment of heparan sulfate degradation in Drosophila reveals pathogenic mechanisms for Mucopolysaccharidosis type IIIA.
Journal: Experimental neurology
Published: October 12, 2016
Showing 1-12 of 12
Last Updated: 09/26/2026