Joe C.H. Sim
Royal Children's Hospital(AU)University of Melbourne(AU)Walter and Eliza Hall Institute of Medical Research(AU)Victorian Clinical Genetics Services(AU)UCSF Benioff Children's Hospital(US)Murdoch Children's Research Institute(AU)Austin Health(AU)
Publications by Year
Research Areas
Cardiomyopathy and Myosin Studies, Chromatin Remodeling and Cancer, Cancer Mechanisms and Therapy, Parkinson's Disease Mechanisms and Treatments, DNA Repair Mechanisms
Most-Cited Works
- → Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology(2014)270 cited
- → Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features(2014)241 cited
- → <i>ARID1B</i>-mediated disorders: Mutations and possible mechanisms(2014)75 cited
- → Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss(2015)37 cited
- → Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency(2014)20 cited
- → PW283 Identification and characterisation of a novel hypertrophic cardiomyopathy gene(2014)