Publications by authors named "Callum J Wilson"

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Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Gillian I Rice, Sehoon Park, Francesco Gavazzi, Laura A Adang, Loveline A Ayuk, Callum J Wilson

Hum Mutat· April 2020

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Analysis of the pre-retinal opacities in Gaucher Disease using spectral domain optical coherent tomography.
Leo H N Sheck, Callum J Wilson, Andrea L Vincent

Ophthalmic Genet· December 2012

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BCS1L gene mutation presenting with GRACILE-like syndrome and complex III deficiency.
Adrienne M Lynn, Richard I King, Richard J Mackay, Chris M Florkowski, Callum J Wilson

Ann Clin Biochem· March 2012

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Salicylate intoxication from teething gel in infancy.
Gary D Williams, Edwin P Kirk, Callum J Wilson, Caroline A Meadows, Betty S Chan

Med J Aust· February 2011

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High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
Sarah E Calvo, Elena J Tucker, Alison G Compton, Denise M Kirby, Gabriel Crawford, Callum J Wilson

Nat Genet· October 2010

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Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency.
Lisa M Bailey, Ruby A Ivanov, Sarawut Jitrapakdee, Callum J Wilson, John C Wallace

Hum Mutat· June 2008

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Novel human pathological mutations. Gene symbol: APOB. Disease: normotriglyceridemic hypobetalipoproteinemia.
Vivienne Homer, Peter M George, Stephen du Toit, James S Davidson, Callum J Wilson

Hum Genet· June 2007

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Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.
Alistair T Pagnamenta, Jan-Willem Taanman, Callum J Wilson, Neil E Anderson, Rosetta Marotta

Hum Reprod· October 2006

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Mental retardation and ataxia due to normotriglyceridemic hypobetalipoproteinemia.
Vivienne M Homer, Peter M George, Stephen du Toit, James S Davidson, Callum J Wilson

Ann Neurol· July 2005

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Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates.
Callum J Wilson, Michael Myer, Brian A Darlow, Thorsten Stanley, Glen Thomson

J Pediatr· July 2005

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Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.
Barbara Burwinkel, John W Scott, Christoph Bührer, Frank K H van Landeghem, Gerald F Cox, Callum J Wilson

Am J Hum Genet· June 2005

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Apolipoprotein C-II deficiency presenting as a lipid encephalopathy in infancy.
Callum J Wilson, Claudio Priore Oliva, Franco Maggi, Alberico L Catapano, Sebastiano Calandra

Ann Neurol· June 2003

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Metabolic disease: a multitude of presentations.
Callum J Wilson

N Z Med J· April 2002

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