Penny Snell

50 Flemington Road
Parkville, VIC 3052, Australia

Last Updated: 09/26/2026

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Found 17 publications

DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1-Related Disease.

DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1-Related Disease.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: February 19, 2026

Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort.

Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort.

Journal: Cerebellum (London, England)

Published: June 01, 2025

HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.

HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.

Journal: Annals of neurology

Published: May 11, 2025

The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.

The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.

Journal: Brain communications

Published: September 12, 2024

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Journal: medRxiv : the preprint server for health sciences

Published: September 10, 2024

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Journal: Cell

Published: August 19, 2024

A multi-exon RFC1 deletion in a case of CANVAS: expanding the genetic mechanism of disease.

A multi-exon RFC1 deletion in a case of CANVAS: expanding the genetic mechanism of disease.

Journal: Journal of neurology

Published: August 07, 2024

A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia.

A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia.

Journal: Genome research

Published: June 11, 2024

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.

Journal: medRxiv : the preprint server for health sciences

Published: April 22, 2024

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

Journal: Nature

Published: April 07, 2024

Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.

Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.

Journal: medRxiv : the preprint server for health sciences

Published: April 02, 2024

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.

Journal: medRxiv : the preprint server for health sciences

Published: June 09, 2023

Showing 1-12 of 17

Last Updated: 09/26/2026