Dr Sebastian Lunke
Honorary (Principal Fellow)
Department of Clinical Pathology
160 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
Australian parents' perspectives on extended genomic screening: what information to return and when?
DOI: 10.1038/s41431-026-02168-w2026
Journal article
How parents decide whether to have genomic newborn screening: experiences from BabyScreen.
DOI: 10.1038/s41431-026-02159-x2026
Journal article
Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic Epilepsies
DOI: 10.1001/jamaneurol.2026.10212026
Journal article
KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity
DOI: 10.1002/epi4.702662023
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
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.2025.1016262026
Journal article
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi-Omic Genomics
DOI: 10.1002/ajmg.a.70191