Richard I. Webster

Sydney, NSW, Australia

Last Updated: 09/26/2026

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Found 19 publications

Thrombectomy for Pediatric Large Vessel Occlusion Stroke With Mild Presenting Symptoms.

Thrombectomy for Pediatric Large Vessel Occlusion Stroke With Mild Presenting Symptoms.

Journal: Neurology

Published: June 18, 2026

Development and Adaptive Function in Individuals With SCN2A-Related Disorders.

Development and Adaptive Function in Individuals With SCN2A-Related Disorders.

Journal: Neurology

Published: July 22, 2025

RNA variant assessment using transactivation and transdifferentiation.

RNA variant assessment using transactivation and transdifferentiation.

Journal: American journal of human genetics

Published: March 08, 2024

Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial.

Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial.

Journal: Neurology

Published: February 09, 2024

Neurodevelopmental outcomes in a cohort of Australian families with self-limited familial epilepsy of neonatal/infantile onset.

Neurodevelopmental outcomes in a cohort of Australian families with self-limited familial epilepsy of neonatal/infantile onset.

Journal: Seizure

Published: September 27, 2023

Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.

Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.

Journal: Brain : a journal of neurology

Published: February 03, 2022

Urgent computed tomography angiography in paediatric stroke.

Urgent computed tomography angiography in paediatric stroke.

Journal: Developmental medicine and child neurology

Published: November 09, 2021

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.

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

ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.

ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.

Journal: Journal of inherited metabolic disease

Published: October 22, 2020

Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.

Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.

Journal: Brain communications

Published: June 05, 2020

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

Journal: The Journal of clinical endocrinology and metabolism

Published: May 29, 2020

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.

Journal: Journal of inherited metabolic disease

Published: May 21, 2020

Showing 1-12 of 19

Last Updated: 09/26/2026