Concepedia

Joe C.H. Sim

JC

Statistics

Publications

4

Citations

582

H-Index

4

Active since

2014

Affiliations

Murdoch Children's Research Institute(Current)

Royal Children's Hospital

The University of Melbourne

Victorian Clinical Genetics Services

Walter and Eliza Hall Institute of Medical Research

Joe C.H. Sim is an author at Murdoch Children's Research Institute specializing in genetics, molecular genetics, and medicine.

Publications per year

2014–2015

4

Publications

4

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

Gabrielle R. Wilson, Joe C.H. Sim, Catriona McLean et al. · The American Journal of Human Genetics · 2014 · 275 citations · Full text

, , +16

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

Davor Lessel, Bruno Vaz, Swagata Halder et al. · Nature Genetics · 2014 · 247 citations

, , +14

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss

Ashley P.L. Marsh, Vesna Lukić, Kate Pope et al. · Neurology Genetics · 2015 · 38 citations · Full text

, , +17

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

Joe C.H. Sim, Susan M. White, Elizabeth Fitzpatrick et al. · Orphanet Journal of Rare Diseases · 2014 · 22 citations · Full text

, , +15

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