Publications by authors named "Joe C H Sim"

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Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss.
Ashley P L Marsh, Vesna Lukic, Kate Pope, Catherine Bromhead, Rick Tankard, Joe C H Sim

Neurol Genet· August 2015

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ARID1B-mediated disorders: Mutations and possible mechanisms.
Joe C H Sim, Susan M White, Paul J Lockhart

Intractable Rare Dis Res· February 2015

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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, Maila Giannandrea, Charles A Galea

Am J Hum Genet· December 2014

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Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.
Davor Lessel, Bruno Vaz, Swagata Halder, Paul J Lockhart, Ivana Marinovic-Terzic, Joe C H Sim, Simon von Ameln

Nat Genet· November 2014

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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, Gabrielle R Wilson, Greta Gillies

Orphanet J Rare Dis· March 2014

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