Publications

 

Leveraging Large-scale Datasets and Single Cell Omics Data to Develop a Polygenic Score for Cisplatin-induced Ototoxicity

Pharmacogenomics
Precision medicine
Hearing loss
Polygenic scores
Single cell technologies
Background: Cisplatin-induced ototoxicity (CIO), characterized by irreversible and progressive bilateral hearing loss, is a prevalent adverse effect of cisplatin…
October 2024
Miao, Deanne Nixie., Wilke, MacKenzie., Pham, John., Ladha, Feryal., Singh, Mansumeet., Arsenio, Janilyn., et al.

 

A Multi-Centre, Tolerability Study of a Cannabidiol-enriched Cannabis Herbal Extract for Chronic Headaches in Adolescents: the CAN-CHA Protocol

Pharmacogenomics
Precision medicine
Introduction: Cannabis products have been used in the management of headaches in adults and may play a role in pediatric chronic pain. Canadian pediatricians report…
September 2024
Chhabra, Manik., Lewis, Evan C., Balshaw, Robert., Stewart, Breanne., Zaslawski, Zina., Lowthian, Trinity., et al.

 

CIAO1 and MMS19 deficiency: a lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders

Precision medicine
Rare Mendelian disorders
Genome sequencing
Purpose: The functionality of many cellular proteins depends on cofactors; yet, they have only been implicated in a minority of Mendelian diseases. Here, we describe the…
June 2024
Karnebeek, Clara., Tarailo-Graovac, Maja., Leen, René., Meinsma, Rutger., Correard, Solenne., Jansen-Meijer, Judith., et al.

 

Risk and Resilience Variants in the Retinoic Acid Metabolic and Developmental Pathways Associated with Risk of FASD Outcomes

Precision medicine
Fetal Alcohol Spectrum Disorder (FASD) is a common neurodevelopmental disorder that affects an estimated 2-5% of North Americans. FASD is induced by prenatal alcohol…
May 2024
McKay, Leo., Petrelli, Berardino., Pind, Molly., Reynolds, James N., Wintle, Richard F., Chudley, Albert E., et al.

 

Characterization of CYP2B6 and CYP2A6 Pharmacogenetic Variation in Sub‐Saharan African Populations

Pharmacogenomics
Precision medicine
Under-represented populations
Genome sequencing
Genetic variation in CYP2B6 and CYP2A6 is known to impact interindividual response to antiretrovirals, nicotine, and bupropion, among other drugs. However, the full…
March 2024
Drögemöller, Britt I., Twesigomwe, David, Wright, Galen E. B., Adebamowo, Clement, Agongo, Godfred, Boua, Palwendé R., Matshaba, Mogomotsi, Paximadis, Maria, Hazelhurst, Scott, et al.

 

Current Perspectives on Data Sharing and Open Science in Pharmacogenomics

Pharmacogenomics
Precision medicine
GWAS
Open science
Genome-wide association studies (GWAS) summary statistics provide opportunities to accelerate human genomics research. In pharmacogenomics, assembling large, statistically…
March 2024
Miao, Deanne Nixie R., Ladha, Feryal, Lyle, Sarah M., Olivier, Daniel W., Ahmed, Samah, Drögemöller, Britt I.

 

Association Between HLA-DPB1 and Antineutrophil Cytoplasmic Antibody–Associated Vasculitis in Children

Precision medicine
GWAS
Antineutrophil cytoplasmic antibody (ANCA)–associated vasculitis (AAV) is a rare, life-threatening inflammation of blood vessels that can affect both adults and children.…
June 2023
Gibson, Kristen M., Drögemöller, Britt I., Foell, Dirk, Benseler, Susanne M., Graham, Jinko, Hancock, Robert E. W., et al.

 

Characterization of CYP2D6 Pharmacogenetic Variation in Sub‐Saharan African Populations

Pharmacogenomics
Precision medicine
Under-represented populations
Genome sequencing
Cytochrome P450 2D6 (CYP2D6) is a key enzyme in drug response owing to its involvement in the metabolism of ~ 25% of clinically prescribed medications. The encoding CYP2D6…
March 2023
Twesigomwe, David, Drögemöller, Britt I., Wright, Galen E.B., Adebamowo, Clement, Agongo, Godfred, Boua, Palwendé R., et al.

 

Transcriptome-wide association analyses identify an association between ARL14EP and polycystic ovary syndrome

Precision medicine
TWAS
Polycystic ovary syndrome (PCOS) is a common endocrine disorder, which is accompanied by a variety of comorbidities including metabolic, reproductive, and psychiatric…
January 2023
Lyle, Sarah M., Ahmed, Samah, Elliott, Jason E., Stener-Victorin, Elisabet, Nachtigal, Mark W., Drögemöller, Britt I.

 

PharmVar GeneFocus: CYP3A5

Pharmacogenomics
Precision medicine
The Pharmacogene Variation Consortium (PharmVar) catalogs star (*) allele nomenclature for the polymorphic human CYP3A5 gene. Genetic variation within the CYP3A5 gene locus…
December 2022
Rodriguez‐Antona, Cristina, Savieo, Jessica L., Lauschke, Volker M., Sangkuhl, Katrin, Drögemöller, Britt I., Wang, Danxin, et al.

 

A pharmacogenomic investigation of the cardiac safety profile of ondansetron in children and pregnant women

Pharmacogenomics
Precision medicine
GWAS
Ondansetron is a highly effective antiemetic for the treatment of nausea and vomiting. However, this medication has also been associated with QT prolongation.…
April 2022
Drögemöller, Britt I., Wright, Galen E.B., Trueman, Jessica, Shaw, Kaitlyn, Staub, Michelle, Chaudhry, Shahnaz, et al.

 

A Systematic Review and Analysis of the Use of Polygenic Scores in Pharmacogenomics

Pharmacogenomics
Precision medicine
Polygenic scores
Polygenic scores (PGSs) have emerged as promising tools for complex trait risk prediction. The application of these scores to pharmacogenomics provides new opportunities to…
April 2022
Johnson, Danielle, Wilke, MacKenzie A.P., Lyle, Sarah M., Kowalec, Kaarina, Jorgensen, Andrea, Wright, Galen E.B., Drögemöller, Britt I.

 

Patient‐specific genetic factors predict treatment failure in sofosbuvir‐treated patients with chronic hepatitis C

Pharmacogenomics
Precision medicine
According to pivotal clinical trials, cure rates for sofosbuvir-based antiviral therapy exceed 96%. Treatment failure is usually assumed to be because of virological…
April 2022
Loucks, Catrina M., Lin, Jennifer J., Trueman, Jessica N., Drögemöller, Britt I., Wright, Galen E. B., Chang, Wan‐Chun, et al.

 

Novel variant in glycophorin c gene protects against ribavirin-induced anemia during chronic hepatitis C treatment

Pharmacogenomics
Precision medicine
GWAS
The current use of ribavirin in difficult-to-cure chronic hepatitis C patients (HCV) and patients with severe respiratory infections is constrained by the issue of…
November 2021
Lin, Jennifer J., Loucks, Catrina M., Trueman, Jessica N., Drögemöller, Britt I., Wright, Galen E.B., Yoshida, Eric M., et al.

 

Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects

Precision medicine
Rare Mendelian disorders
Genome sequencing
Monoamine neurotransmitter disorders present predominantly with neurologic features, including dystonic or dyskinetic cerebral palsy and movement disorders. Genetic…
July 2021
Van Karnebeek, Clara D., Blydt-Hansen, Ingrid, Matthews, Allison M., Avramovic, Vladimir, Price, Magda, Drögemöller, Britt I., et al.

 

TCERG1L allelic variation is associated with cisplatin-induced hearing loss in childhood cancer, a PanCareLIFE study

Precision medicine
Pharmacogenomics
Hearing loss
GWAS
In children with cancer, the heterogeneity in ototoxicity occurrence after similar treatment suggests a role for genetic susceptibility. Using a genome-wide association…
July 2021
Meijer, A. J. M., Diepstraten, F. A., Langer, T., Broer, L., Domingo, I. K., Clemens, E., et al.

 

Adult GAMT deficiency: A literature review and report of two siblings

Precision medicine
Rare Mendelian disorders
Genome sequencing
Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency disorder and an inborn error of metabolism presenting with progressive intellectual and…
June 2021
Modi, Bhavi P., Khan, Haq Nawaz, Van Der Lee, Robin, Wasim, Muhammad, Haaxma, Charlotte A., Richmond, Phillip A., et al.

 

Transcriptome-wide association study uncovers the role of essential genes in anthracycline-induced cardiotoxicity

Pharmacogenomics
Precision medicine
GWAS
TWAS
Anthracyclines are highly effective chemotherapeutic agents; however, their clinical utility is limited by severe anthracycline-induced cardiotoxicity (ACT). Genome-wide…
May 2021
Scott, Erika N., Wright, Galen E. B., Drögemöller, Britt I., Hasbullah, Jafar S., Gunaretnam, Erandika P., Miao, Fudan, et al.

 

The Extent and Impact of Variation in ADME Genes in Sub-Saharan African Populations

Pharmacogenomics
Precision medicine
Under-represented populations
Genome sequencing
Da Rocha, Jorge E. B., Othman, Houcemeddine, Botha, Gerrit, Cottino, Laura, Twesigomwe, David, Ahmed, Samah, Drögemöller, Britt I., Fadlelmola, Faisal M., Machanick, Philip…
April 2021
Da Rocha, Jorge E. B., Othman, Houcemeddine, Botha, Gerrit, Cottino, Laura, Twesigomwe, David, Ahmed, Samah, et al.

 

Integrating Disease and Drug-Related Phenotypes for Improved Identification of Pharmacogenomic Variants

Pharmacogenomics
Precision medicine
GWAS
Aim: To improve the identification and interpretation of pharmacogenetic variants through the integration of disease and drug-related traits. Materials & methods: We…
March 2021
Ouellette, Tom W, Wright, Galen Eb, Drögemöller, Britt I., Ross, Colin Jd, Carleton, Bruce C

 

StellarPGx: A Nextflow Pipeline for Calling Star Alleles in Cytochrome P450 Genes

Pharmacogenomics
Precision medicine
Under-represented populations
Genome sequencing
Open science
Bioinformatics pipelines for calling star alleles (haplotypes) in cytochrome P450 (CYP) genes are important for the implementation of precision medicine. Genotyping CYP…
January 2021
Twesigomwe, David, Drögemöller, Britt I., Wright, Galen E.B., Siddiqui, Azra, Da Rocha, Jorge, Lombard, Zané, Hazelhurst, Scott

 

A systematic comparison of pharmacogene star allele calling bioinformatics algorithms: a focus on CYP2D6 genotyping

Pharmacogenomics
Precision medicine
Under-represented populations
Genome sequencing
Genetic variation in genes encoding cytochrome P450 enzymes has important clinical implications for drug metabolism. Bioinformatics algorithms for genotyping these highly…
August 2020
Twesigomwe, David, Wright, Galen E. B., Drögemöller, Britt I., Da Rocha, Jorge, Lombard, Zané, Hazelhurst, Scott

 

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

Pharmacogenomics
Precision medicine
GWAS
Wright, Galen E.B., Drögemöller, Britt I., Ross, Colin J.D., Carleton, Bruce C., “Genome-Wide Association Studies of Drug-Induced Liver Injury Make Progress Beyond the HLA…
October 2019
Drögemöller, Britt I., Wright, Galen E.B., Ross, Colin J.D., Carleton, Bruce C.

 

Identification of Novel Adenosine Deaminase 2 Gene Variants and Varied Clinical Phenotype in Pediatric Vasculitis

Precision medicine
Rare Mendelian disorders
Individuals with deficiency of adenosine deaminase 2 (DADA2), a recently recognized autosomal recessive disease, present with various systemic vascular and inflammatory…
October 2019
Gibson, Kristen M., Morishita, Kimberly A., Dancey, Paul, Moorehead, Paul, Drögemöller, Britt I., Han, Xiaohua, et al.

 

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

Precision medicine
Rare Mendelian disorders
Genome sequencing
Early-infantile encephalopathies with epilepsy are devastating conditions mandating an accurate diagnosis to guide proper management. Whole-exome sequencing was used to…
September 2019
Van Karnebeek, Clara D.M., Ramos, Rúben J., Wen, Xiao-Yan, Tarailo-Graovac, Maja, Gleeson, Joseph G., Skrypnyk, Cristina, et al.

 

Atypical cerebral palsy: genomics analysis enables precision medicine

Precision medicine
Rare Mendelian disorders
Genome sequencing
The presentation and etiology of cerebral palsy (CP) are heterogeneous. Diagnostic evaluation can be a prolonged and expensive process that might remain inconclusive. This…
July 2019
Matthews, Allison M., Blydt-Hansen, Ingrid, Al-Jabri, Basmah, Andersen, John, Tarailo-Graovac, Maja, Price, Magda, et al.

 

Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure

Precision medicine
Rare Mendelian disorders
Genome sequencing
Pyrimidine nucleotides are essential for a vast number of cellular processes and dysregulation of pyrimidine metabolism has been associated with a variety of clinical…
June 2019
Pérez-Torras, Sandra, Mata-Ventosa, Aida, Drögemöller, Britt I., Tarailo-Graovac, Maja, Meijer, Judith, Meinsma, Rutger, et al.

 

Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease

Precision medicine
Rare Mendelian disorders
Huntington disease (HD) is caused by a CAG repeat expansion in the huntingtin (HTT) gene. Although the length of this repeat is inversely correlated with age of onset (AOO)…
June 2019
Wright, Galen E.B., Collins, Jennifer A., Kay, Chris, McDonald, Cassandra, Dolzhenko, Egor, Xia, Qingwen, et al.

 

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

Pharmacogenomics
Precision medicine
Although previous research identified candidate genetic polymorphisms associated with cisplatin nephrotoxicity, varying outcome definitions potentially contributed to the…
May 2019
Zazuli, Zulfan, Otten, Leila S., Drögemöller, Britt I., Medeiros, Mara, Monzon, Jose G., Wright, Galen E. B., et al.

 

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS

Precision medicine
Rare Mendelian disorders
Genome sequencing
We report an inborn error of metabolism caused by an expansion of a GCA-repeat tract in the 5′ untranslated region of the gene encoding glutaminase (GLS) that was identified…
April 2019
Van Kuilenburg, André B.P., Tarailo-Graovac, Maja, Richmond, Phillip A., Drögemöller, Britt I., Pouladi, Mahmoud A., Leen, René, et al.

 

Pharmacogenomics of Cisplatin‐Induced Ototoxicity: Successes, Shortcomings, and Future Avenues of Research

Pharmacogenomics
Precision medicine
Hearing loss
Cisplatin is a highly effective chemotherapeutic. Unfortunately, its use is limited by cisplatin-induced ototoxicity (CIO). Substantial research has been performed to…
April 2019
Drögemöller, Britt I., Wright, Galen E.B., Lo, Cody, Le, Tan, Brooks, Beth, Bhavsar, Amit P., et al.

 

Analyses of Adverse Drug Reactions–Nationwide Active Surveillance Network: Canadian Pharmacogenomics Network for Drug Safety Database

Pharmacogenomics
Precision medicine
Adverse drug reactions (ADRs) are a major problem in modern medicine, representing up to the fourth-highest cause of mortality. Pharmacogenomic tests are 1 of the most…
March 2019
Tanoshima, Reo, Khan, Amna, Biala, Agnieszka K., Trueman, Jessica N., Drögemöller, Britt I., Wright, Galen E. B., et al.

 

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

Precision medicine
Rare Mendelian disorders
Genome sequencing
Biallelic pathogenic variants in PLPBP (formerly called PROSC) have recently been shown to cause a novel form of vitamin B6-dependent epilepsy, the pathophysiological basis…
March 2019
Johnstone, Devon L, Al-Shekaili, Hilal H, Tarailo-Graovac, Maja, Wolf, Nicole I, Ivy, Autumn S, Demarest, Scott, et al.

 

CYP2D6 as a treatment decision aid for ER-positive non-metastatic breast cancer patients: a systematic review with accompanying clinical practice guidelines

Pharmacogenomics
Precision medicine
Tamoxifen is one of the principal treatments for estrogen receptor (ER)-positive breast cancer. Unfortunately, between 30 and 50% of patients receiving this hormonal therapy…
February 2019
Drögemöller, Britt I., Wright, Galen E. B., Shih, Joanne, Monzon, Jose G., Gelmon, Karen A., Ross, Colin J. D., et al.

 

Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function

Precision medicine
Rare Mendelian disorders
Genome sequencing
Sialic acids are important components of glycoproteins and glycolipids essential for cellular communication, infection, and metastasis. The importance of sialic acid…
December 2018
Wen, Xiao-Yan, Tarailo-Graovac, Maja, Brand-Arzamendi, Koroboshka, Willems, Anke, Rakic, Bojana, Huijben, Karin, et al.

 

Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability

Precision medicine
Rare Mendelian disorders
Genome sequencing
Over the last decades, a growing spectrum of monogenic disorders of human magnesium homeostasis has been clinically characterized, and genetic studies in affected…
November 2018
Schlingmann, Karl P., Bandulik, Sascha, Mammen, Cherry, Tarailo-Graovac, Maja, Holm, Rikke, Baumann, Matthias, et al.

 

Common variation near IRF6 is associated with IFN-β-induced liver injury in multiple sclerosis

Pharmacogenomics
Precision medicine
GWAS
Multiple sclerosis (MS) is a disease of the central nervous system treated with disease-modifying therapies, including the biologic, interferon-β (IFN-β). Up to 60% of…
July 2018
Kowalec, Kaarina, Wright, Galen E. B., Drögemöller, Britt I., Aminkeng, Folefac, Bhavsar, Amit P., Kingwell, Elaine, et al.

 

Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype

Precision medicine
Rare Mendelian disorders
Genome sequencing
Here, we describe a fourth case of a human with a de novo KCNJ6 (GIRK2) mutation, who presented with clinical findings of severe hyperkinetic movement disorder and…
May 2018
Horvath, Gabriella A., Zhao, Yulin, Tarailo-Graovac, Maja, Boelman, Cyrus, Gill, Harinder, Shyr, Casper, et al.

 

Further Investigation of the Role of ACYP2 and WFS1 Pharmacogenomic Variants in the Development of Cisplatin-Induced Ototoxicity in Testicular Cancer Patients

Pharmacogenomics
Precision medicine
Hearing loss
Drögemöller, Britt I., Brooks, Beth, Critchley, Carol, Monzon, José G., Wright, Galen E.B., Liu, Geoffrey, Renouf, Daniel J., Kollmannsberger, Christian K., Bedard, Philippe…
April 2018
Drögemöller, Britt I., Brooks, Beth, Critchley, Carol, Monzon, José G., Wright, Galen E.B., Liu, Geoffrey, et al.

 

Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700GA and a large intragenic inversion in DPYD spanning intron 8 to intron 12

Precision medicine
Rare Mendelian disorders
Genome sequencing
Dihydropyrimidine dehydrogenase (DPD) deficiency is associated with a variable clinical presentation. A family with three DPD-deficient patients presented with unusual…
April 2018
Van Kuilenburg, André B.P., Tarailo-Graovac, Maja, Meijer, Judith, Drögemöller, Britt, Vockley, Jerry, Maurer, Dirk, et al.

 

Association Between SLC16A5 Genetic Variation and Cisplatin-Induced Ototoxic Effects in Adult Patients With Testicular Cancer

Pharmacogenomics
Precision medicine
Hearing loss
Cisplatin-induced ototoxic effects are an important complication that affects testicular cancer survivors as a consequence of treatment. The identification of genetic…
November 2017
Drögemöller, Britt I., Monzon, Jose G., Bhavsar, Amit P., Borrie, Adrienne E., Brooks, Beth, Wright, Galen E. B., et al.

 

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

Precision medicine
Rare Mendelian disorders
Genome sequencing
Here we report a 12 year old male with an extreme presentation of spastic paraplegia along with autism and dysmorphisms. Whole exome sequencing identified a predicted…
October 2017
Matthews, A.M., Tarailo-Graovac, M., Price, E.M., Blydt-Hansen, I., Ghani, A., Drögemöller, B.I., et al.

 

hackseq: Catalyzing collaboration between biological and computational scientists via hackathon

Open science
hackseq ( http://www.hackseq.com) was a genomics hackathon with the aim of bringing together a diverse set of biological and computational scientists to work on…
April 2017
hackseq Organizing Committee 2016.

 

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease

Precision medicine
Rare Mendelian disorders
Genome sequencing
Sialic acid storage diseases are neurodegenerative disorders characterized by accumulation of sialic acid in the lysosome. These disorders are caused by mutations in…
February 2017
Drögemöller, Britt I., Tarailo-Graovac, Maja, Wasserman, Wyeth W., Ross, Colin J. D., Van Den Ouweland, Ans M. W., Darin, Niklas, et al.

 

Fine-mapping of Antipsychotic Response Genome-wide Association Studies Reveals Novel Regulatory Mechanisms

Pharmacogenomics
Precision medicine
GWAS
Under-represented populations
Aim: Noncoding variation has demonstrated regulatory effects on disease treatment outcomes. This study investigated the potential functionality of previously implicated…
December 2016
Drögemöller, Britt I., Ovenden, Ellen S, Van Der Merwe, Lize, Chiliza, Bonginkosi, Asmal, Laila, Emsley, Robin A, Warnich, Louise

 

Further Validation of the SIGMAR1 c.151+1GT Mutation as Cause of Distal Hereditary Motor Neuropathy

Precision medicine
Rare Mendelian disorders
Genome sequencing
Distal hereditary motor neuropathies represent a group of rare genetic disorders characterized by progressive distal motor weakness without sensory loss. Their genetic…
September 2016
Lee, Jessica J. Y., Van Karnebeek, Clara D. M., Drögemöller, Britt, Shyr, Casper, Tarailo-Graovac, Maja, Eydoux, Patrice, et al.

 

De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome

Precision medicine
Rare Mendelian disorders
Genome sequencing
PEHO syndrome (OMIM no. 260565) is characterized by myoclonic jerking and infantile spasms, profound psychomotor retardation with the absence of motor milestones and speech…
June 2016
Langlois, Sylvie, Tarailo-Graovac, Maja, Sayson, Bryan, Drögemöller, Britt I., Swenerton, Anne, Ross, Colin JD, et al.

 

Exome Sequencing and the Management of Neurometabolic Disorders

Precision medicine
Rare Mendelian disorders
Genome sequencing
Whole-exome sequencing has transformed gene discovery and diagnosis in rare diseases. Translation into disease-modifying treatments is challenging, particularly for…
June 2016
Tarailo-Graovac, Maja, Shyr, Casper, Ross, Colin J., Horvath, Gabriella A., Salvarinova, Ramona, Ye, Xin C., et al.

 

CYP2B66 and CYP2B618 Predict Long-Term Efavirenz Exposure Measured in Hair Samples in HIV-Positive South African Women

Pharmacogenomics
Precision medicine
Under-represented populations
Long-term exposure to efavirenz (EFV) measured in hair samples may predict response to antiretroviral treatment (ART). Polymorphisms in CYP2B6 are known to alter EFV levels.…
May 2016
Röhrich, Carola R., Drögemöller, Britt I., Ikediobi, Ogechi, Van Der Merwe, Lize, Grobbelaar, Nelis, Wright, Galen E.B., et al.

 

Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis

Precision medicine
Rare Mendelian disorders
Genome sequencing
We report a patient from a consanguineous family who presented with transient acute liver failure and biochemical patterns suggestive of disturbed urea cycle and…
May 2016
Santra, Saikat, Cameron, Jessie M., Shyr, Casper, Zhang, Linhua, Drögemöller, Britt I., Ross, Colin J., et al.

 

The identification of novel genetic variants associated with antipsychotic treatment response outcomes in first-episode schizophrenia patients

Pharmacogenomics
Precision medicine
Genome sequencing
Under-represented populations
Although antipsychotics are integral to the treatment of schizophrenia, drug efficacy varies between patients. Although it has been shown that antipsychotic treatment…
May 2016
Drögemöller, Britt I., Emsley, Robin, Chiliza, Bonginkosi, Van Der Merwe, Lize, Wright, Galen E.B., Daya, Michelle, et al.

 

Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes

Precision medicine
Rare Mendelian disorders
Genome sequencing
Hyperglycemia is a rare presenting symptom of mitochondrial disorders. We report a case of a young girl who presented shortly after birth with ketoacidosis, hyperlactatemia…
January 2016
Anastasio, Natascia, Tarailo-Graovac, Maja, Al-Khalifah, Reem, Legault, Laurent, Drögemöller, Britt, Ross, Colin J.D., et al.

 

Evaluation of Predictive CYP2C19 Genotyping Assays Relative to Measured Phenotype in a South African Cohort

Pharmacogenomics
Precision medicine
Under-represented populations
Aim: To align predicted and measured CYP2C19 phenotype in a South African cohort. Materials & methods: Genotyping of CYP2C192, *3, *9, *15, *17, *27 and *28 was performed…
August 2015
Dodgen, Tyren M, Drögemöller, Britt I., Wright, Galen Eb, Warnich, Louise, Steffens, Francois E, Cromarty, A Duncan, et al.

 

Considerations for rare variants in drug metabolism genes and the clinical implications

Pharmacogenomics
Precision medicine
Large-scale whole genome and exome resequencing studies have revealed that humans have a high level of deleterious rare variation, which has important implications for the…
March 2014
Drögemöller, Britt I., Wright, Galen Eb, Warnich, Louise

 

Patterns of Variation Influencing Antipsychotic Treatment Outcomes in South African First-Episode Schizophrenia Patients

Pharmacogenomics
Precision medicine
Under-represented populations
Genome sequencing
Aim: Many antipsychotic pharmacogenetics studies have been performed examining candidate genes or known variation; however, our understanding of the genetic factors involved…
January 2014
Drögemöller, Britt I, Niehaus, Dana Jh, Chiliza, Bonginkosi, Merwe, Lize Van Der, Asmal, Laila, Malhotra, Anil K, et al.

 

Next-generation sequencing of pharmacogenes: a critical analysis focusing on schizophrenia treatment

Pharmacogenomics
Precision medicine
Genome sequencing
Because of the unmet needs of current pharmacotherapy for schizophrenia, antipsychotic pharmacogenetic research is of utmost importance. However, to date, few clinically…
December 2013
Drögemöller, Britt I., Wright, Galen E.B., Niehaus, Dana J.H., Emsley, Robin, Warnich, Louise

 

Characterization of the genetic variation present in CYP3A4 in three South African populations

Pharmacogenomics
Precision medicine
Under-represented populations
The CYP3A4 enzyme is the most abundant human cytochrome P450 (CYP) and is regarded as the most important enzyme involved in drug metabolism. Inter-individual and…
February 2013
Drögemöller, Britt I., Plummer, Marieth, Korkie, Lundi, Agenbag, Gloudi, Dunaiski, Anke, Niehaus, Dana, et al.

 

Introduction of the AmpliChip CYP450 Test to a South African cohort: a platform comparative prospective cohort study

Pharmacogenomics
Precision medicine
Under-represented populations
Adverse drug reactions and lack of therapeutic efficacy associated with currently prescribed pharmacotherapeutics may be attributed, in part, to inter-individual variability…
January 2013
Dodgen, Tyren M, Hochfeld, Warren E, Fickl, Heidi, Asfaha, Sahle M, Durandt, Chrisna, Rheeder, Paul., et al.

 

Association of MB-COMT polymorphisms with schizophrenia-susceptibility and symptom severity in an African cohort

Precision medicine
Under-represented populations
The catechol-O-methyltransferase (COMT) gene is an attractive schizophrenia candidate gene, encoding a catabolic dopamine enzyme. The enzyme exists as two distinct isoforms…
October 2012
Wright, Galen E.B., Niehaus, Dana J.H., Van Der Merwe, Lize, Koen, Liezl, Korkie, Lundi J., Kinnear, Craig J., Drögemöller, Britt I., Warnich, Louise

 

Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry: Recurrent mutation p.R59W in variegate porphyria

Precision medicine
Rare Mendelian disorders
Variegate porphyria (VP) is due to a partial deficiency of protoporphyrinogen oxidase (PPOX), the seventh enzyme in the haem biosynthetic pathway. Clinically, VP is…
February 2012
Van Tuyll Van Serooskerken, A.M., Drögemöller, B.I., Te Velde, K., Bladergroen, R.S., Steijlen, P.M., Poblete-Gutiérrez, P., et al.

 

Psychiatric genetics in South Africa: cutting a rough diamond

Precision medicine
Under-represented populations
Psychiatric disorders place a considerable healthcare burden on South African society. Incorporating genetic technologies into future treatment plans offers a potential…
December 2011
Wright, GEB., Niehaus, DJH., Koen, L., Drögemöller, Britt BI., Warnich, L.

 

Whole-Genome Resequencing in Pharmacogenomics: Moving Away from past Disparities to Globally Representative Applications

Pharmacogenomics
Precision medicine
Under-represented populations
Genome sequencing
Africa suffers from a high burden of disease; nonetheless, it has been one of the most under-represented continents with regard to genomic research. It can be argued that…
November 2011
Drögemöller, Britt I., Wright, Galen EB., Niehaus, Dana JH., Emsley, Robin A., Warnich, Louise.

 

Pharmacogenomic Research in South Africa: Lessons Learned and Future Opportunities in the Rainbow Nation

Pharmacogenomics
Precision medicine
Under-represented populations
South Africa, like many other developing countries, stands to benefit from novel diagnostics and drugs developed by pharmacogenomics guidance due to high prevalence of…
June 2011
Warnich, Louise, Drögemöller, Britt, Pepper, Michael S., Dandara, Collet, Wright, Galen E.B.

 

Characterization of the Genetic Profile of CYP2C19 in Two South African Populations

Pharmacogenomics
Precision medicine
Under-represented populations
Aims: This study was aimed at elucidating the common sequence variation present in the CYP2C19 gene within the South African Xhosa population and comparing it with the Cape…
August 2010
Drögemöller, Britt I., Wright, Galen Eb, Niehaus, Dana Jh, Koen, Liezl, Malan, Stefanie, Da Silva, Danielle M, et al.

 

Elucidation of CYP2D6 Genetic Diversity in a Unique African Population: Implications for the Future Application of Pharmacogenetics in the Xhosa Population

Pharmacogenomics
Precision medicine
Under-represented populations
Genetic variation of the CYP2D6 gene has been associated with altered drug metabolism; however, limited studies have investigated CYP2D6 sequence diversity in African…
June 2010
Wright, Galen E. B., Niehaus, Dana J. H., Drögemöller, Britt I., Koen, Liezl, Gaedigk, Andrea, Warnich, Louise
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