Callum Wilson
Metabolic Technologies (United States)(US)Starship Children's Health(NZ)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Diet and metabolism studies, Neonatal Health and Biochemistry, Lysosomal Storage Disorders Research
Most-Cited Works
- → High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency(2010)359 cited
- → The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter(2007)228 cited
- → New NBIA subtype(2012)179 cited
- → Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma(2006)171 cited
- → Fatal Congenital Heart Glycogenosis Caused by a Recurrent Activating R531Q Mutation in the γ2-Subunit of AMP-Activated Protein Kinase (PRKAG2), Not by Phosphorylase Kinase Deficiency(2005)153 cited
- → Personal practice: Autosomal recessive osteopetrosis: diagnosis, management, and outcome(2000)126 cited
- → Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function