Dr Sebastian Lunke
Honorary (Principal Fellow)
Department of Clinical Pathology
156 Scholarly works
1 Projects
HIGHLIGHTS
2026
Journal article
Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen study
DOI: 10.1038/s41525-026-00551-62026
Journal article
Mainstreaming genomic testing for mitochondrial disease in Australia
DOI: 10.1038/s41431-026-02053-62026
Journal article
Variant interpretation training for the genomics era: Learning outcomes to inform professional competencies and education
DOI: 10.1016/j.ajhg.2026.01.0092026
Journal article
Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual Disability
DOI: 10.1016/j.jmoldx.2025.11.0062026
Journal article
Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses
DOI: 10.1016/j.gim.2025.1016262023
Research Grant
Redefining Macular Disease Diagnosis to Improve Access to Emerging Therapies
2015
Journal article
AmpliVar: Mutation detection in high-throughput sequence from amplicon-based libraries
DOI: 10.1002/humu.22763
RECENT SCHOLARLY WORKS
2026
Journal article
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi-Omic Genomics
DOI: 10.1002/ajmg.a.701912026
Journal article
Genomic Newborn Screening: Commodity or Public Good?
DOI: 10.5694/mja2.701352026
Journal article
KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity
DOI: 10.1002/epi4.702662026
Journal article
Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen study
DOI: 10.1038/s41431-026-02036-72025
Journal article
Titin-related familial dilated cardiomyopathy: factors associated with disease onset
DOI: 10.1093/eurheartj/ehaf380