| Exome sequencing and the management of neurometabolic disorders M Tarailo-Graovac, C Shyr, CJ Ross, GA Horvath, R Salvarinova, XC Ye, ... New England Journal of Medicine 374 (23), 2246-2255, 2016 | 321 | 2016 |
| Length of uninterrupted CAG, independent of polyglutamine size, results in increased somatic instability, hastening onset of Huntington disease GEB Wright, JA Collins, C Kay, C McDonald, E Dolzhenko, Q Xia, ... The American Journal of Human Genetics 104 (6), 1116-1126, 2019 | 188 | 2019 |
| Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS ABP van Kuilenburg, M Tarailo-Graovac, PA Richmond, BI Drögemöller, ... New England Journal of Medicine 380 (15), 1433-1441, 2019 | 94 | 2019 |
| Pharmacogenomic research in South Africa: lessons learned and future opportunities in the rainbow nation L Warnich, B I Drogemoller, M S Pepper, C Dandara, G EB Wright Current Pharmacogenomics and Personalized Medicine (Formerly Current …, 2011 | 92 | 2011 |
| Germline de novo mutations in ATP1A1 cause renal hypomagnesemia, refractory seizures, and intellectual disability KP Schlingmann, S Bandulik, C Mammen, M Tarailo-Graovac, R Holm, ... The American Journal of Human Genetics 103 (5), 808-816, 2018 | 89 | 2018 |
| PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights DL Johnstone, HH Al-Shekaili, M Tarailo-Graovac, NI Wolf, AS Ivy, ... Brain 142 (3), 542-559, 2019 | 81 | 2019 |
| Pharmacogenomics of vincristine‐induced peripheral neuropathy implicates pharmacokinetic and inherited neuropathy genes GEB Wright, U Amstutz, BI Drögemöller, J Shih, SR Rassekh, MR Hayden, ... Clinical Pharmacology & Therapeutics 105 (2), 402-410, 2019 | 73 | 2019 |
| Characterization of the Genetic Profile of CYP2C19 in Two South African Populations BI Drögemöller, GEB Wright, DJH Niehaus, L Koen, S Malan, DM Da Silva, ... Pharmacogenomics 11 (8), 1095-1103, 2010 | 66 | 2010 |
| Elucidation of CYP2D6 Genetic Diversity in a Unique African Population: Implications for the Future Application of Pharmacogenetics in the Xhosa Population GEB Wright, DJH Niehaus, BI Drögemöller, L Koen, A Gaedigk, L Warnich Annals of human genetics 74 (4), 340-350, 2010 | 66 | 2010 |
| Bi-allelic GOT2 mutations cause a treatable malate-aspartate shuttle-related encephalopathy CDM van Karnebeek, RJ Ramos, XY Wen, M Tarailo-Graovac, ... The American Journal of Human Genetics 105 (3), 534-548, 2019 | 63 | 2019 |
| Association between SLC16A5 genetic variation and cisplatin-induced ototoxic effects in adult patients with testicular cancer BI Drögemöller, JG Monzon, AP Bhavsar, AE Borrie, B Brooks, ... JAMA oncology 3 (11), 1558-1562, 2017 | 60 | 2017 |
| Identification of novel adenosine deaminase 2 gene variants and varied clinical phenotype in pediatric vasculitis KM Gibson, KA Morishita, P Dancey, P Moorehead, B Drögemöller, X Han, ... Arthritis & Rheumatology 71 (10), 1747-1755, 2019 | 55 | 2019 |
| Atypical cerebral palsy: genomics analysis enables precision medicine AM Matthews, I Blydt-Hansen, B Al-Jabri, J Andersen, M Tarailo-Graovac, ... Genetics in Medicine 21 (7), 1621-1628, 2019 | 54 | 2019 |
| Introduction of the AmpliChip CYP450 Test to a South African cohort: a platform comparative prospective cohort study TM Dodgen, WE Hochfeld, H Fickl, SM Asfaha, C Durandt, P Rheeder, ... BMC medical genetics 14, 1-15, 2013 | 54 | 2013 |
| Characterization of the genetic variation present in CYP3A4 in three South African populations BI Drogemoller, M Plummer, L Korkie, G Agenbag, A Dunaiski, D Niehaus, ... Frontiers in Genetics 4, 17, 0 | 54* | |
| A systematic comparison of pharmacogene star allele calling bioinformatics algorithms: a focus on CYP2D6 genotyping D Twesigomwe, GEB Wright, BI Drögemöller, J Da Rocha, Z Lombard, ... NPJ genomic medicine 5 (1), 30, 2020 | 50 | 2020 |
| Further Investigation of the Role of ACYP2 and WFS1 Pharmacogenomic Variants in the Development of Cisplatin-Induced Ototoxicity in Testicular Cancer Patients BI Drögemöller, B Brooks, C Critchley, JG Monzon, GEB Wright, G Liu, ... Clinical Cancer Research 24 (8), 1866-1871, 2018 | 48 | 2018 |
| A systematic review and analysis of the use of polygenic scores in pharmacogenomics D Johnson, MKAP Wilke, SM Lyle, K Kowalec, A Jorgensen, GEB Wright, ... Clinical Pharmacology & Therapeutics 111 (4), 919-930, 2022 | 47 | 2022 |
| De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome S Langlois, M Tarailo-Graovac, B Sayson, B Drögemöller, A Swenerton, ... European Journal of Human Genetics 24 (6), 949-953, 2016 | 47 | 2016 |
| Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function XY Wen, M Tarailo-Graovac, K Brand-Arzamendi, A Willems, B Rakic, ... JCI insight 3 (24), 2018 | 45 | 2018 |
