Mr Lyndon Gallacher
Clinical (Fellow)
Department of Paediatrics
36 Scholarly works
0 Projects
HIGHLIGHTS
2026
Journal article
Variant interpretation training for the genomics era: Learning outcomes to inform professional competencies and education
DOI: 10.1016/j.ajhg.2026.01.0092025
Journal article
Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies
DOI: 10.1016/j.xhgg.2025.1004402025
Journal article
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases
DOI: 10.1016/j.xhgg.2025.1004412025
Journal article
Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia
DOI: 10.1101/gr.280047.1242025
Journal article
Splicing Defects and Cell Death Cause SF3B2-Linked Craniofacial Microsomia
DOI: 10.1177/002203452513258182024
Journal article
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
DOI: 10.1038/s41586-024-07773-72024
Journal article
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
DOI: 10.1038/s41431-024-01610-1
RECENT SCHOLARLY WORKS
2024
Journal article
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals (European Journal of Human Genetics, (2024), 32, 8, (928-937), 10.1038/s41431-024-01610-1)
DOI: 10.1038/s41431-024-01659-y2024
Journal article
“Uninsurable because of a genetic test”: a qualitative study of consumer views about the use of genetic test results in Australian life insurance
DOI: 10.1038/s41431-024-01602-12024
Journal article
Genome Sequencing for Diagnosing Rare Diseases
DOI: 10.1056/NEJMoa2314761