| 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 | 257 | 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 | 85 | 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 | 80 | 2011 |
| 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 | 56 | 2010 |
| 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 | 55 | 2010 |
| 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 | 46 | 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 | 44 | 2019 |
| 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 | 44 | 2018 |
| 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), 1-15, 2013 | 44 | 2013 |
| 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 | 42 | 2017 |
| 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 | 38 | 2019 |
| Next-generation sequencing of pharmacogenes: a critical analysis focusing on schizophrenia treatment BI Drögemöller, GEB Wright, DJH Niehaus, R Emsley, L Warnich Pharmacogenetics and genomics 23 (12), 666-674, 2013 | 38 | 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 | 37* | |
| 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 | 33 | 2018 |
| 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 | 32 | 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 | 32 | 2019 |
| Common variation near IRF6 is associated with IFN-β-induced liver injury in multiple sclerosis K Kowalec, GEB Wright, BI Drögemöller, F Aminkeng, AP Bhavsar, ... Nature genetics 50 (8), 1081-1085, 2018 | 32 | 2018 |
| 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 | 30 | 2016 |
| 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 | 26 | 2019 |
| 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 | 26 | 2018 |
