Rebecca Macintosh
Sydney, NSW, Australia
Last Updated: 09/26/2026
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Found 33 publications
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.
Journal: Developmental medicine and child neurology
Published: August 07, 2025
Connect, pause and reflect: Multidisciplinary clinicians' shared challenges and sustaining strategies caring for children with severe neurological impairment.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: March 23, 2025
Genetic Counseling in Pediatric Inborn Errors of Immunity: Perspective Piece on Current Practice and Considerations.
Journal: The journal of allergy and clinical immunology. In practice
Published: October 17, 2024
A mixed-methods assessment of the Australasian Society of Genetic Counselors (ASGC) Mentor Program.
Journal: Genetics in medicine open
Published: January 31, 2024
Psychosocial experiences of clinicians providing care for children with severe neurological impairment.
Journal: Developmental medicine and child neurology
Published: October 17, 2023
Rapid whole-genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease.
Journal: Pediatric blood & cancer
Published: April 02, 2023
"Somewhere to turn to with my questions": A pre-post pilot of an information linker service for caregivers who have a child with a Developmental and Epileptic Encephalopathy.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: February 23, 2023
Challenges in seizure control in ATP6V0C deficiency: A longitudinal case report.
Journal: Epileptic disorders : international epilepsy journal with videotape
Published: December 27, 2022
Acceptability and feasibility of an online information linker service for caregivers who have a child with genetic epilepsy: a mixed-method pilot study protocol.
Journal: BMJ open
Published: October 26, 2022
Hope in the uncertainties and certainty for parents of children with rare neurological disorders. Part I (of 3): Uncertainty.
Journal: Journal of paediatrics and child health
Published: July 31, 2022
Last Updated: 09/26/2026