Graham Sinclair
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Folate and B Vitamins Research, Neonatal Health and Biochemistry, Lysosomal Storage Disorders Research, Mitochondrial Function and Pathology
Most-Cited Works
- → Exome Sequencing and the Management of Neurometabolic Disorders(2016)279 cited
- → Guanine ribonucleotide depletion inhibits T cell activation. Mechanism of action of the immunosuppressive drug mizoribine.(1991)156 cited
- → Synonymous codon usage bias and the expression of human glucocerebrosidase in the methylotrophic yeast, Pichia pastoris(2002)156 cited
- → Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy(2017)126 cited
- → Enhanced interpretation of newborn screening results without analyte cutoff values(2012)123 cited
- → Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood(2014)107 cited
- → Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials(2012)105 cited
- → The genotypic and phenotypic spectrum of PIGA deficiency(2015)86 cited
- → De Novo Mutations in YWHAG Cause Early-Onset Epilepsy(2017)85 cited
- → The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations(2009)79 cited