Britt Drögemöller
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
- StellarPGx: A nextflow pipeline for calling star alleles in cytochrome P450 genes
- A systematic comparison of pharmacogene star allele calling bioinformatics algorithms: A focus on CYP2D6 genotyping
- 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
- Germline de novo mutations in ATP1A1 cause renal hypomagnesemia, refractory seizures, and intellectual disability
- Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function
- 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
- Fine-mapping of antipsychotic response genome-wide association studies reveals novel regulatory mechanisms
- 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
- The identification of novel genetic variants associated with antipsychotic treatment response outcomes in first-episode schizophrenia patients
- De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome
- Evaluation of predictive CYP2C19 genotyping assays relative to measured phenotype in a South African cohort
- Considerations for rare variants in drug metabolism genes and the clinical implications
- Patterns of variation influencing antipsychotic treatment outcomes in South African first-episode schizophrenia patients
- Next-generation sequencing of pharmacogenes: a critical analysis focusing on schizophrenia treatment
- Introduction of the AmpliChip CYP450 test to a South African cohort: a platform comparative prospective cohort study
- Association of MB-COMT polymorphisms with schizophrenia-susceptibility and symptom severity in an African cohort
- Whole-genome resequencing in pharmacogenomics: moving away from past disparities to globally representative applications
- Psychiatric genetics in South Africa: cutting a rough diamond
- Pharmacogenomic research in South Africa: Lessons learned and future opportunities in the rainbow nation
- Characterization of the genetic profile of CYP2C19 in two South African populations
- Elucidation of CYP2D6 genetic diversity in a unique African population: implications for the future application of pharmacogenetics in the Xhosa population