Colin Ross
Latest
- Secondary biogenic amine deficiencies: Genetic etiology, therapeutic interventions and clinical effects
- Transcriptome-wide association study uncovers the role of essential genes in anthracycline-induced cardiotoxicity
- Adult GAMT deficiency: A literature review and report of two siblings
- Integrating disease and drug related phenotypes for improved identification of pharmacogenomic variants
- CYP2D6 as a treatment decision aid for ER-positive non-metastatic breast cancer patients: a systematic review with accompanying clinical practice guidelines
- Analyses of adverse drug reactions-nationwide active surveillance network: Canadian Pharmacogenomics Network for Drug Safety database
- Atypical cerebral palsy: genomics analysis enables precision medicine
- Bi-allelic GOT2 mutations cause a treatable malate-aspartate shuttle-related encephalopathy
- Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure
- Genome-Wide Association Studies of drug-induced liver injury make progress beyond the HLA region
- Glutaminase deficiency caused by short tandem repeat expansion in GLS
- Identification of novel adenosine deaminase 2 gene variants and varied clinical phenotype in pediatric vasculitis
- Length of uninterrupted CAG, independent of polyglutamine size, results in increased somatic instability, hastening onset of Huntington Disease
- Outcome definition influences the relationship between genetic polymorphisms of ERCC1, ERCC2, SLC22A2 and cisplatin nephrotoxicity in adult testicular cancer patients
- Pharmacogenomics of cisplatin-induced ototoxicity: Successes, shortcomings, and future avenues of research
- Pharmacogenomics of vincristine-induced peripheral neuropathy implicates pharmacokinetic and inherited neuropathy genes
- PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights
- Common variation near IRF6 is associated with IFN-β-induced liver injury in multiple sclerosis
- Further investigation of the role of ACYP2 and WFS1 pharmacogenomic variants in the development of cisplatin-induced ototoxicity in testicular cancer patients
- Gain-of-function KCNJ6 mutation in a severe hyperkinetic movement disorder phenotype
- Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12
- Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function
- Association between SLC16A5 genetic variation and cisplatin-induced ototoxic effects in adult patients with testicular cancer
- A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder
- Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease
- Mitochondrial complex III deficiency with ketoacidosis and hyperglycemia mimicking neonatal diabetes
- Further validation of the SIGMAR1 c.151+1G>T mutation as cause of distal hereditary motor neuropathy
- Exome sequencing and the management of neurometabolic disorders
- Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis