Publications

Google Scholar Citations

 

21. Ovenden ES, Drögemöller BI, van der Merwe L, Chiliza B, Asmal L, Emsley RA, Warnich L. Fine-mapping of antipsychotic response genome-wide association studies reveals novel regulatory mechanisms Pharmacogenomics. 18(2):105-120 (2017).

20. Lee JJY, van Karnebeek CDM, Drögemoller B, Shyr C, Tarailo-Graovac M, Eydoux P, Ross CJ, Wasserman WW, Björnson B, Wu JK. Further validation of the SIGMAR1 c.151+1G>T mutation as cause of distal hereditary motor neuropathy. Child Neurology Open. 3:1-5 (2016).

19. Tarailo-Graovac M, Shyr C, Ross CJ, Horvath GA, Salvarinova R, Ye XC, Zhang LH, Bhavsar AP, Lee JJ, Drögemöller BI, Abdelsayed M, Alfadhel M, Armstrong L, Baumgartner MR, Burda P, Connolly MB, Cameron J, Demos M, Dewan T, Dionne J, Evans AM, Friedman JM, Garber I, Lewis S, Ling J, Mandal R, Mattman A, McKinnon M, Michoulas A, Metzger D, Ogunbayo OA, Rakic B, Rozmus J, Ruben P, Sayson B, Santra S, Schultz KR, Selby K, Shekel P, Sirrs S, Skrypnyk C, Superti-Furga A, Turvey SE, Van Allen MI, Wishart D, Wu J, Wu J, Zafeiriou D, Kluijtmans L, Wevers RA, Eydoux P, Lehman AM, Vallance H, Stockler-Ipsiroglu S, Sinclair G, Wasserman WW, van Karnebeek CD. Exome Sequencing and the Management of Neurometabolic Disorders. N Engl J Med. 374(23):2246-55 (2016)

18. Anastasio N, Tarailo-Graovac M, Al-Khalifah R, Legault L, Drögemöller B, Ross CJ, Wasserman WW, van Karnebeek C, Buhas D. Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes. JIMD Rep. 2016 Apr 14. [Epub ahead of print].

17. Santra S, Cameron JM, Shyr C, Zhang L, Drögemöller B, Ross CJ, Wasserman WW, Wevers RA, Rodenburg RJ, Gupte G, Preece MA, van Karnebeek CD. Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis. Mol Genet Metab. 118(1):21-7 (2016).

16. Röhrich CR*, Drögemöller BI*, Ikediobi O, van der Merwe L, Grobbelaar N, Wright GE, McGregor N, Warnich L. CYP2B6*6 and CYP2B6*18 Predict Long-Term Efavirenz Exposure Measured in Hair Samples in HIV-Positive South African Women. AIDS Res Hum Retroviruses. 32(6):529-3 (2016).

15. Drögemöller B, Emsley R, Chiliza B, van der Merwe L, Wright G, Daya M, Hoal E, Malhotra A, Lencz T, Robinson D, Zhang J, Asmal L, Niehaus D, Warnich L. The identification of novel genetic variants associated with antipsychotic treatment response outcomes in first episode schizophrenia patients. Pharmacogenet Genomics. 26(5):235-42 (2016).

14. Langlois S, Tarailo-Graovac M, Sayson B, Drögemöller B, Ross C, Swenerton A, van Karnebeek CDM. De novo dominant mutations affecting the motor domain of KIF1A are a cause of PEHO syndrome. Eur J Hum Genet. 24(6):949-53 (2016).

13. Dodgen TM, Drögemöller BI, Wright GE, Warnich L, Steffens FE, Cromarty AD, Alessandrini M, Pepper MS. Evaluation of predictive CYP2C19 genotyping assays relative to measured phenotype in a South African cohort. Pharmacogenomics. 16(12):1343-54 (2015).

12. Drögemöller BI, Wright GE, Warnich L. Considerations for rare variants in drug metabolism genes and the clinical implications. Expert Opin Drug Metab Toxicol. 10(6):873-84 (2014).

11. Drogemöller BI, Niehaus DJ, Chiliza B, van der Merwe L, Asmal L, Malhotra AK, Wright GE, Emsley R, Warnich L. Patterns of variation influencing antipsychotic treatment outcomes in South African first-episode schizophrenia patients. Pharmacogenomics. 15(2):189-99 (2014).

10. Drögemöller BI, Wright GEB, Niehaus DJH, Emsley RA, Warnich L. Next generation sequencing of pharmacogenes: a critical analysis focussing on schizophrenia treatment. Pharmacogenet Genomics 23, 666-674 (2013).

9. Drögemöller B*, Plummer M*, Korkie L*, Agenbag G, Dunaiski A, Niehaus D, Koen L, Gebhardt S, Schneider N, Olckers A, Wright G, Warnich L. Characterization of the genetic variation present in CYP3A4 in three South African populations. Front Gene. 4, 17 (2013).

8. Dodgen TM, Hochfeld WE, Fickl H, Asfaha SM, Durandt C, Rheeder P, Drögemöller BI, Wright GEB, Warnich L, Labuschagne D de J, van Schalkwyk A, Gaedigk A, Pepper MS. Introduction of the AmpliChip CYP450 Test to a South African cohort: a platform comparative prospective cohort study. BMC Med Genet. 14, 20 (2013).

7. Wright GE, Niehaus DJ, van der Merwe L, Koen L, Korkie LJ, Kinnear CJ, Drögemöller BI, Warnich L. Association of MB-COMT polymorphisms with schizophrenia-susceptibility and symptom severity in an African cohort. Prog Neuropsychopharmacol Biol Psychiatry. 39, 163-9 (2012).

6. Warnich L, Drögemöller BI, Pepper MS, Dandara C, Wright GEB. Pharmacogenomic research in South Africa: lessons learned and future opportunities in the rainbow nation. Curr Pharmacogenomics Person Med. 9, 191-207 (2011).

5. Wright GEB, Niehaus DJH, Koen L, Drögemöller BI, Warnich L. Psychiatric genetics in South Africa: cutting a rough diamond. Afr J Psychiatry (Johannesbg). 14, 355-66 (2011).

4. Drögemöller BI, Wright GEB, Niehaus DJH, Emsley RA, Warnich L. Whole genome resequencing in pharmacogenomics: moving away from past disparities to globally representative applications. Pharmacogenomics. 12, 1717-28 (2011).

3. van Tuyll van Serooskerken AM*, Drögemöller BI*, Te Velde K, Bladergroen RS, Steijlen PM, Poblete-Gutiérrez P, van Geel M, van Heerden CJ, Warnich L, Frank J. Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry. Br J Dermatol. 166, 261-5 (2012).

2. Drögemöller BI, Wright GEB, Niehaus DJH, Koen L, Malan S, Da Silva DM, Hillermann-Rebello R, La Grange AM, Venter M, Warnich L. Characterization of the genetic profile of CYP2C19 in two South African populations. Pharmacogenomics. 11, 1095–103 (2010).

1. Wright GEB, Niehaus DJH, Drögemöller BI, Koen L, Warnich L. Elucidation of CYP2D6 genetic diversity in a unique African population implications for the future application of pharmacogenetics in the Xhosa population. Ann Hum Genet. 74, 340-50 (2010).

 

Invited commentaries:

Drögemöller BI. Whole-genome sequencing provides insight into the genetics of major depressive disorder. Clin Genet. 2015. doi: 10.1111/cge.12651.

Drögemöller BI. Maintaining the balance: both gain- and loss-of-function KCNA2 mutants cause epileptic encephalopathy. Clin Genet. 88(2):137-9 (2015).

*These authors contributed equally to the work.