Sandra T. Cooper

214 Hawkesbury Road
Westmead, NSW 2145, Australia

Last Updated: 09/26/2026

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Found 82 publications

A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3.

A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3.

Journal: Acta neuropathologica

Published: March 29, 2026

Strategic consensus on the clinical translation of advanced therapies in paediatric rare neurological disorders.

Strategic consensus on the clinical translation of advanced therapies in paediatric rare neurological disorders.

Journal: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

Published: February 05, 2026

Severe neonatal-onset PYROXD1-related myopathy with a novel homozygous missense variant: expanding the phenotypic spectrum.

Severe neonatal-onset PYROXD1-related myopathy with a novel homozygous missense variant: expanding the phenotypic spectrum.

Journal: Neuromuscular disorders : NMD

Published: December 03, 2025

Pyroxd1 is essential for murine viability with the homozygous N155S recurrent variant linked to myopathy, muscle hypotrophy and osteopenia.

Pyroxd1 is essential for murine viability with the homozygous N155S recurrent variant linked to myopathy, muscle hypotrophy and osteopenia.

Journal: Acta neuropathologica communications

Published: November 10, 2025

Expert Consensus on Genetic Diagnostic Approaches for Patients With Limb-Girdle Muscular Dystrophy.

Expert Consensus on Genetic Diagnostic Approaches for Patients With Limb-Girdle Muscular Dystrophy.

Journal: Neurology

Published: October 28, 2025

New genotype-phenotype correlations and management recommendations for individuals with RERE variants.

New genotype-phenotype correlations and management recommendations for individuals with RERE variants.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 15, 2025

SPEN deficiency contributes to the development of orofacial clefts in humans and mice.

SPEN deficiency contributes to the development of orofacial clefts in humans and mice.

Journal: Human molecular genetics

Published: June 10, 2025

Borzoi decodes the complex DNA signals governing gene regulation.

Borzoi decodes the complex DNA signals governing gene regulation.

Journal: Nature genetics

Published: April 01, 2025

Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.

Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.

Journal: Genome medicine

Published: September 18, 2024

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B).

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B).

Journal: American journal of medical genetics. Part A

Published: July 02, 2024

Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex "No Mutations Identified" Cohort.

Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex "No Mutations Identified" Cohort.

Journal: Molecular genetics & genomic medicine

Published: June 27, 2024

Genome Sequencing for Diagnosing Rare Diseases.

Genome Sequencing for Diagnosing Rare Diseases.

Journal: The New England journal of medicine

Published: June 05, 2024

Showing 1-12 of 82

Last Updated: 09/26/2026