Dr Sumudu Amarasekera
Variation Curator & Research Scientist
Department of Optometry and Vision Sciences
11 Scholarly works
2 Projects
HIGHLIGHTS
2025
Journal article
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases
DOI: 10.1186/s13073-025-01467-z2025
Research grants (ARC, NHMRC, MRFF)
Transforming the Diagnosis of Inherited Eye Diseases Using Long-Read Sequencing Technologies
2025
Journal article
Genetics and eye health: research advances and implications for primary eyecare
DOI: 10.1080/08164622.2025.25805762024
Research contracts (non-grants)
Investigating the Genetic Basis of Undiagnosed Inherited Retinal Diseases
2023
Thesis / Dissertation
Solving the Unsolved: Implementing new Omics and functional approaches to enable genomic diagnosis of virtually all patients with Mitochondrial disease
2023
Journal article
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease
DOI: 10.1093/hmg/ddad0692023
Journal article
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency
DOI: 10.1007/s00439-023-02563-z
RECENT SCHOLARLY WORKS
2022
Journal article
Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies
DOI: 10.1002/jmd2.122802022
Journal article
Mainstreaming proteomics into rare disease diagnostics
DOI: 10.1016/j.pathol.2021.12.0622021
Journal article
Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus
DOI: 10.1016/j.medj.2020.06.0042020
Conference Proceedings
Recurrent de novo ATAD3 duplications cause fatal perinatal mitochondrial cardiomyopathy, persistent hyperlactacidemia, encephalopathy and heart-specific mitochondrial oxidative phosphorylation complex I deficiency.
2018
Journal article
The phylogenetic analysis of VP1 genomic region in foot-and-mouth disease virus serotype O isolates in Sri Lanka reveals the existence of 'Sr1-97', a newly named endemic lineage (vol 13, e0194077, 2018)
DOI: 10.1371/journal.pone.0196491