Joe C H Sim

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.

P. Lockhart, S. Haas, K. Hogan, 2014, American journal of human genetics.

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

Peter Nürnberg, Ivan Dikic, Melanie Bahlo, 2014, Nature Genetics.

ARID1B-mediated disorders: Mutations and possible mechanisms.

P. Lockhart, S. White, Joe C H Sim, 2015, Intractable & rare diseases research.

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

P. Lockhart, M. Bahlo, M. Delatycki, 2015, Neurology: Genetics.

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

A. V. Vulto-van Silfhout, P. Lockhart, D. Muzny, 2014, Orphanet Journal of Rare Diseases.

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3

P. Lockhart, P. Crino, M. Bahlo, 2015, Annals of neurology.