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. StellarPGx: A Nextflow pipeline for calling star alleles in cytochrome P450 genes. Clinical Pharmacology & Therapeutics, 2021.

. The extent and impact of variation in ADME genes in sub-Saharan African populations. bioRxiv, 2020.

. SJS/TEN 2019: From science to translation. Journal of dermatological science, 2020.

. Interrupting sequence variants and age of onset in Huntington's disease: clinical implications and emerging therapies. The Lancet Neurology, 2020.

. Gene expression profiles complement the analysis of genomic modifiers of the clinical onset of Huntington disease. Human molecular genetics, 2020.

. Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range. Genetics in Medicine, 2020.

. A systematic comparison of pharmacogene star allele calling bioinformatics algorithms: a focus on CYP2D6 genotyping. NPJ genomic medicine, 2020.

. Pharmacogenomics of Cisplatin-Induced Ototoxicity: Successes, Shortcomings and Future Avenues of Research. Clinical Pharmacology & Therapeutics, 2019.

. Outcome Definition Influences the Relationship Between Genetic Polymorphisms of ERCC1, ERCC2, SLC22A2 and Cisplatin Nephrotoxicity in Adult Testicular Cancer Patients. Genes, 2019.

. Length of uninterrupted CAG, independent of polyglutamine size, results in increased somatic instability, hastening onset of Huntington disease. The American Journal of Human Genetics, 2019.

. Length of uninterrupted CAG repeats, independent of polyglutamine size, results in increased somatic instability and hastened age of onset in Huntington disease. bioRxiv, 2019.


. Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS. New England Journal of Medicine, 2019.

. Genome-Wide Association Studies of Drug-Induced Liver Injury Make Progress Beyond the HLA Region. Gastroenterology, 2019.

. Gene expression profiles complement the analysis of genomic modifiers of the clinical onset of Huntington disease. bioRxiv, 2019.


. The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2018.

. Pharmacogenomics of vincristine-induced peripheral neuropathy implicates pharmacokinetic and inherited neuropathy genes. Clinical Pharmacology & Therapeutics, 2018.


. Huntington Disease - NCBI GeneReviews. 2018.

. Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients. Neurology, 2018.


. Further investigation of the role of ACYP2 and WFS1 pharmacogenomic variants in the development of cisplatin-induced ototoxicity in testicular cancer patients. Clinical Cancer Research, 2018.

. Common variation near IRF6 is associated with IFN-beta-induced liver injury in multiple sclerosis. Nature Genetics, 2018.


. CYP2D6 as a treatment decision aid for ER-positive non-metastatic breast cancer patients: a systematic review with accompanying clinical practice guidelines. Breast Cancer Research and Treatment, 2018.


. Analyses of Adverse Drug Reactions - Nationwide Active Surveillance Network: Canadian Pharmacogenomics Network for Drug Safety Database. The Journal of Clinical Pharmacology, 2018.

. hackseq: Catalyzing collaboration between biological and computational scientists via hackathon. F1000Research, 2017.

. The targetable A1 Huntington disease haplotype has distinct Amerindian and European origins in Latin America. European Journal of Human Genetics, 2017.

. Association between SLC16A5 genetic variation and cisplatin-induced ototoxic effects in adult patients with testicular cancer. JAMA Oncology, 2017.

. The identification of novel genetic variants associated with antipsychotic treatment response outcomes in first-episode schizophrenia patients. Pharmacogenetics and Genomics, 2016.

. The global spectrum of protein-coding pharmacogenomic diversity. The Pharmacogenomics Journal, 2016.

Code DOI

. Nuclear receptor NR1H3 in familial multiple sclerosis. Neuron, 2016.

. Case-control studies are not familial studies. Neuron, 2016.

. CYP2B6* 6 and CYP2B6* 18 predict long-term efavirenz exposure measured in hair samples in HIV-positive South African women. AIDS Research and Human Retroviruses, 2016.

. Warfarin pharmacogenetics in the era of new oral anticoagulants. Clinical Genetics, 2015.

. Evaluation of predictive CYP2C19 genotyping assays relative to measured phenotype in a South African cohort. Pharmacogenomics, 2015.

. Sequencing of GJB2 in Cameroonians and Black South Africans and comparison to 1000 Genomes Project data support need to revise strategy for discovery of nonsyndromic deafness genes in Africans. Omics: A Journal of Integrative Biology, 2014.

. Patterns of variation influencing antipsychotic treatment outcomes in South African first-episode schizophrenia patients. Pharmacogenomics, 2014.

. Informed consent and ethical re-use of African genomic data. Human Genomics, 2014.

. Considerations for rare variants in drug metabolism genes and the clinical implications. Expert Opinion on Drug Metabolism & Toxicology, 2014.

. Next-generation sequencing of pharmacogenes: a critical analysis focusing on schizophrenia treatment. Pharmacogenetics and Genomics, 2013.

. Introduction of the AmpliChip CYP450 Test to a South African cohort: a platform comparative prospective cohort study. BMC Medical Genetics, 2013.

. Ethical and legal implications of whole genome and whole exome sequencing in African populations. BMC Medical Ethics, 2013.

. Characterization of the genetic variation present in CYP3A4 in three South African populations. Frontiers in Genetics, 2013.

. End of the beginning and public health pharmacogenomics: knowledge in 'Mode 2' P5 medicine. Current Pharmacogenomics and Personalized Medicine, 2012.

. Chromosome 22q11 in a Xhosa schizophrenia population. SAMJ: South African Medical Journal, 2012.

. Association of MB-COMT polymorphisms with schizophrenia-susceptibility and symptom severity in an African cohort. Progress in Neuro-Psychopharmacology and Biological Psychiatry, 2012.

. Whole-genome resequencing in pharmacogenomics: moving away from past disparities to globally representative applications. Pharmacogenomics, 2011.

. Psychiatric genetics in South Africa: cutting a rough diamond. African Journal of Psychiatry, 2011.

. Pharmacogenomic research in South Africa: lessons learned and future opportunities in the rainbow nation. Current Pharmacogenomics and Personalized Medicine, 2011.

. Elucidation of CYP2D6 genetic diversity in a unique African population: implications for the future application of pharmacogenetics in the Xhosa population. Annals of Human Genetics, 2010.

. Characterization of the genetic profile of CYP2C19 in two South African populations. Pharmacogenomics, 2010.