Prof Michael Hildebrand
Professorial Fellow
Department of Medicine
213 Scholarly works
26 Projects
HIGHLIGHTS
2026
Journal article
Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder
DOI: 10.1016/j.gim.2026.1016852026
Journal article
MTORopathy With Striking Progression on Imaging in Adulthood
DOI: 10.1212/wn9.00000000000000562026
Journal article
Activating Ras-MAPK pathway variants drive hippocampal clonal competition in human epilepsy.
DOI: 10.64898/2026.01.26.7018222021
Research grants (ARC, NHMRC, MRFF)
Precision Diagnosis for the Remaining 50% of Unsolved Developmental and Epileptic Encephalopathies
2021
Research grants (ARC, NHMRC, MRFF)
Targeted Therapies for Vascular Malformations
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-z2017
Research Grant
Detection of Somatic Mutations in Sporadic Epilepsies
RECENT SCHOLARLY WORKS
2026
Journal article
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
DOI: 10.1172/JCI1879982026
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
Childhood motor speech disorders: who to prioritise for genetic testing
DOI: 10.1038/s41431-025-01993-92026
Journal article
Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic Encephalopathy
DOI: 10.1002/ana.780712025
Journal article
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder
DOI: 10.1038/s41467-025-64074-x2025
Journal article
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
DOI: 10.1172/JCI1821002025
Journal article
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
DOI: 10.1101/2025.09.02.25334923
RECENT PROJECTS
2025
Research grants (international)
Exploring a Two-Hit Genetic Model in PTEN Hamartoma Syndrome Related Vascular Anomalies