Thiloka E. Ratnaike
Bristol, ENG, United Kingdom
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 18 publications
Pathophysiology of developmental and/or epileptic encephalopathy with spike-wave activation in sleep: A diagnostic framework.
Journal: Developmental medicine and child neurology
Published: April 07, 2026
Whole genome sequencing in cerebral palsy: a UK paediatric pilot study.
Journal: The Lancet regional health. Europe
Published: March 07, 2026
Fifteen-minute consultation: Early developmental impairment - an update on diagnostic tests.
Journal: Archives of disease in childhood. Education and practice edition
Published: November 19, 2025
A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort.
Journal: European journal of human genetics : EJHG
Published: September 06, 2025
Charting the phenotypic landscape of mitochondrial diseases through a systematic evaluation of pathogenic mitochondrial DNA and nuclear gene variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 05, 2025
Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience.
Journal: American journal of human genetics
Published: November 27, 2024
Should next-generation sequencing be considered as a first-line genetic investigation for children with early developmental impairment?
Journal: Archives of disease in childhood
Published: July 27, 2024
Genetic investigations in cerebral palsy.
Journal: Developmental medicine and child neurology
Published: May 08, 2024
Evidence for sodium valproate toxicity in mitochondrial diseases: a systematic analysis.
Journal: BMJ neurology open
Published: January 16, 2024
UK paediatric trainee research involvement: A national mixed-methods survey to highlight opportunities and challenges.
Journal: Archives of disease in childhood
Published: October 05, 2023
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
Journal: The New England journal of medicine
Published: November 10, 2021
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Journal: BMJ (Clinical research ed.)
Published: November 04, 2021
Last Updated: 09/26/2026