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Annals of Clinical and Translational Neurology|May 23, 2015
Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5Thomas Scerri, Jessica R Riseley, Greta Gillies, et al.European Heart Journal|April 24, 2016
ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathyDean G Phelan, David J Anderson, Sara E Howden, et al.Movement Disorders : Official Journal of the Movement Disorder Society|June 16, 2004
Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2)Sarah Furtado, Haydeh Payami, Paul J Lockhart, et al.Annals of Neurology|August 19, 2015
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3Joe C Sim, Thomas Scerri, Miriam Fanjul-Fernández, et al.Elife|April 19, 2021
DCC regulates astroglial development essential for telencephalic morphogenesis and corpus callosum formationLaura Morcom, Ilan Gobius, Ashley Pl Marsh, et al.Cerebellum (London, England)|June 6, 2025
Comprehensive Characterisation of the RFC1 Repeat in an Australian CohortKayli C Davies, Haloom Rafehi, Liam G Fearnley, et al.Human Mutation|October 11, 2021
A family study implicates GBE1 in the etiology of autism spectrum disorderMiriam Fanjul-Fernández, Natasha J Brown, Peter Hickey, et al.Brain Communications|March 19, 2021
Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brainZimeng Ye, Zac Chatterton, Jahnvi Pflueger, et al.Brain Communications|March 6, 2024
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformationsDaniz Kooshavar, David J Amor, Kirsten Boggs, et al.Brain Communications|July 3, 2026
Late-onset epileptic spasms: presentation, aetiology and outcomeSameer Dal, Emma Macdonald-Laurs, Simone Mandelstam, et al.Pageof 16