Elizabeth E. Palmer

High Street
Randwick, NSW, Australia

Last Updated: 09/26/2026

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Found 122 publications

Clarifying the complex: New guidance for rare disease care.

Clarifying the complex: New guidance for rare disease care.

Journal: Australian journal of general practice

Published: August 06, 2026

Building genetic healthcare together: an Australian co-production three-phase mixed-methods research protocol with people with intellectual disability.

Building genetic healthcare together: an Australian co-production three-phase mixed-methods research protocol with people with intellectual disability.

Journal: BMJ open

Published: July 10, 2026

Applicability of the Consolidated Framework for Implementation Research to integrated care: insights from three case studies.

Applicability of the Consolidated Framework for Implementation Research to integrated care: insights from three case studies.

Journal: JBI evidence implementation

Published: June 22, 2026

The psychosocial supports and interventions accessed by family members of patients with developmental and epileptic encephalopathies: A systematic review.

The psychosocial supports and interventions accessed by family members of patients with developmental and epileptic encephalopathies: A systematic review.

Journal: Epilepsy & behavior : E&B

Published: April 20, 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

Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.

Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.

Journal: American journal of human genetics

Published: December 18, 2025

KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity.

KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity.

Journal: Epilepsia open

Published: October 27, 2025

Multimodal genotype-phenotype analysis in SMARCB1-associated developmental disorders.

Multimodal genotype-phenotype analysis in SMARCB1-associated developmental disorders.

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

Published: October 22, 2025

Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental Disorders.

Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental Disorders.

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

Published: October 22, 2025

"All doctors should be trained in that": The co-production and mixed-methods evaluation of an educational toolkit to enable safe, high-quality genetic health care for people with intellectual disability.

"All doctors should be trained in that": The co-production and mixed-methods evaluation of an educational toolkit to enable safe, high-quality genetic health care for people with intellectual disability.

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

Published: September 09, 2025

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Journal: Nature genetics

Published: September 02, 2025

Codesigned toolkit for multidisciplinary clinicians caring for children with severe neurological impairment.

Codesigned toolkit for multidisciplinary clinicians caring for children with severe neurological impairment.

Journal: Developmental medicine and child neurology

Published: August 07, 2025

Showing 1-12 of 122

Last Updated: 09/26/2026