Renee Smyth
St Vincent's Hospital
Darlinghurst, NSW, Australia
Darlinghurst, NSW, Australia
Last Updated: 09/26/2026
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Found 8 publications
Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort.
Journal: Cerebellum (London, England)
Published: June 01, 2025
Endocrinologist-led genomic testing for monogenic diabetes in adult diabetes clinics: a feasibility and outcome study.
Journal: Diabetes research and clinical practice
Published: November 14, 2024
Case Series of Cerebellar Ataxia with Tremor Due to Heterozygous STUB1 Variants (SCA48) without TBP Expansions: Further Evidence for SCA48 as a Monogenic Disease.
Journal: Cerebellum (London, England)
Published: November 01, 2024
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
Genetic counseling workforce diversity, inclusion, and capacity in Australia and New Zealand.
Journal: Genetics in medicine open
Published: January 30, 2024
Causation in cerebral palsy: Parental beliefs and associated emotions.
Journal: Developmental medicine and child neurology
Published: September 29, 2022
Informing a value care model: lessons from an integrated adult neurogenomics clinic.
Journal: Internal medicine journal
Published: May 13, 2022
A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing.
Journal: Molecular genetics & genomic medicine
Published: January 07, 2022
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Last Updated: 09/26/2026