Kelly Harper

Adelaide, SA, Australia

Last Updated: 09/26/2026

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Found 11 publications

Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study.

Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study.

Journal: EBioMedicine
Published: June 17, 2025

Short Message Service Reminder Nudge for Parents and Influenza Vaccination Uptake in Children and Adolescents With Special Risk Medical Conditions: The Flutext-4U Randomized Clinical Trial.

Short Message Service Reminder Nudge for Parents and Influenza Vaccination Uptake in Children and Adolescents With Special Risk Medical Conditions: The Flutext-4U Randomized Clinical Trial.

Journal: JAMA pediatrics
Published: February 22, 2023

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 23, 2022

Using provider-parent strategies to improve influenza vaccination in children and adolescents with special risk medical conditions: a randomised controlled trial protocol.

Using provider-parent strategies to improve influenza vaccination in children and adolescents with special risk medical conditions: a randomised controlled trial protocol.

Journal: BMJ open
Published: February 11, 2022

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.

Journal: Nature communications
Published: September 17, 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

Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

Journal: Nature genetics
Published: January 12, 2021

Erratum: Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.

Erratum: Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.

Journal: NPJ genomic medicine
Published: June 25, 2019

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

Journal: Nature genetics
Published: January 24, 2019

Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.

Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.

Journal: NPJ genomic medicine
Published: September 10, 2018

Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism.

Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism.

Journal: Translational psychiatry
Published: February 04, 2018
Showing 1-11 of 11

Last Updated: 09/26/2026