Dr Mark Bennett
Honorary (Fellow)
Department of Medicine
66 Scholarly works
1 Projects
HIGHLIGHTS
2026
Journal article
MTORopathy With Striking Progression on Imaging in Adulthood
DOI: 10.1212/wn9.00000000000000562026
Journal article
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
DOI: 10.1038/s41588-026-02547-52026
Journal article
Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic Encephalopathy
DOI: 10.1002/ana.780712025
Research grants (international)
Exploring a Two-Hit Genetic Model in PTEN Hamartoma Syndrome Related Vascular Anomalies
2020
Journal article
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families
DOI: 10.1038/s41431-020-0606-z2020
Journal article
ExpansionHunter Denovo: A computational method for locating known and novel repeat expansions in short-read sequencing data
DOI: 10.1186/s13059-020-02017-z2018
Journal article
Recent advances in the detection of repeat expansions with short-read next-generation sequencing.
DOI: 10.12688/f1000research.13980.1
RECENT SCHOLARLY WORKS
2025
Journal article
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
DOI: 10.1101/2025.09.02.253349232025
Journal article
Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variants
DOI: 10.1093/hmg/ddaf0772025
Journal article
Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data
DOI: 10.1093/nargab/lqaf0332025
Journal article
PAK3 pathogenic variant associated with sleep-related hypermotor epilepsy in a family with parental mosaicism
DOI: 10.1002/epi4.131242025
Journal article
Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy
DOI: 10.1093/braincomms/fcaf4332024
Journal article
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless
DOI: 10.1186/s13023-024-03297-52024
Journal article
SCN8A self-limited infantile epilepsy: Does epilepsy resolve?
DOI: 10.1111/epi.18016