Britt Drögemöller

 

---- Home | Research | Publications | Volunteer | Contact ----

 

PUBLICATIONS

 

Google Scholar Citations

 

  1. Drögemöller BI, Wright GEB, Lo C, Le T, Brooks B, Bhavsar AP, Rassekh SR, Ross CJD, Carleton BC. Pharmacogenomics of Cisplatin-Induced Ototoxicity: Successes, Shortcomings and Future Avenues of Research. Clin Pharmacol Ther. 2019; doi: 10.1002/cpt.1483. [Epub ahead of print]

  2. Gibson KM, Morishita KA, Dancey P, Drögemöller B, Xhan X, Graham J, Hancock REW, Foell D, Benseler S, Luqmani R, Bohm M, Rosenberg AM, Cabral DA, Ross CJ, Brown KL, on behalf of the PedVas investigators network. Identification of novel ADA2 (CECR1) gene variants and varied clinical phenotype in pediatric vasculitis. Arthritis Rheumatol. doi: 10.1002/art.40913 [Epub ahead of print].

  3. Wright GEB, Collins JA, Kay C, McDonald C, Dolzhenko E, Xia Q, Becanovic K, Drögemöller BI, Semaka A, Nguyen CM, Trost B, Richards F, Bijlsma EK, Squitieri F, Ross CJD, Scherer SW, Eberle MA, Yuen RKC, Hayden MR. Length of uninterrupted CAG, independent of polyglutamine size, results in increased somatic instability, hastening onset of Huntington Disease. doi:https://doi.org/10.1016/j.ajhg.2019.04.007 [Epub ahead of print]

  4. Matthews AM, Blydt-Hansen I Jabri BA, Andersen J, Tarailo-Graovac M, Price M, Selby K, Demos M, Connolly M, Drogemoller B, Shyr C, Mfeniwumbo J, Elliot A, Lee J, Ghani A, Stockler S, Salvarinova R, Vallance H, Sinclair G, Ross CJ, Wasserman WW, McKinnon ML, Horvath G, Goez H, van Karnebeek CD. Atypical Cerebral Palsy: Genomics analysis enables precision medicine. Genet Med; doi: 10.1038/s41436-018-0376-y [Epub ahead of print]

  5. Drögemöller B*, Wright G*, Shih J, Aminkeng F, Amstutz U, Hayden MR, Ross C, Carleton B; CPNDS Clinical Recommendation Group. CYP2D6 as a treatment decision aid for ER-positive non-metastatic breast cancer patients: a systematic review with accompanying clinical practice guidelines. Breast Cancer Res Treat. 2019;173:521-32
    *These authors contributed equally to the work

  6. van Kuilenburg ABP*, Tarailo-Graovac M*, Richmond PA*, Drögemöller BI, Pouladi MA, Leen R, Brand-Arzamendi K, Dobritzsch D, Dolzhenko E, Eberle MA, Hayward B, Karbassi F, Jones MJ, Kobor MS, Koster J, Kumari D, Li M, McDonald C, Meijer J, NguyenC, Rajan-Babu I-S, Scherer SW, Sim B, Trost B, Tseng LA, Turkenburg M, van Vugt JJFA, Veldink J, Walia J, Wang Y, van Weeghel M, Wright GEB, Xu X, Yuen RKC, Zhang J, Ross CJ, Wasserman WW, Geraghty M, Santra S, Wanders RJA, Wen X-Y, Waterham HR, Usdin K, van Karnebeek CDM. Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS. N Engl J Med. 2019;380:1433-41.
    *These authors contributed equally to the work

  7. Wright GEB, Amstutz U, Drögemöller BI, Shih J, Rassekh SR, Hayden MR, Carleton BC, Ross CJD; Canadian Pharmacogenomics Network for Drug Safety Consortium. Pharmacogenomics of vincristine-induced peripheral neuropathy implicates pharmacokinetic and inherited neuropathy genes. Clin Pharmacol The. 2019;105:402-10

  8. Zazuli Z, Otten LS, Drögemöller BI, Medeiros M, Monzon JG, Wright GEB, Kollmannsberger CK, Bedard PL, Chen Z, Gelmon KA, McGoldrick N, Kitchlu A, Vijverberg SJH, Masereeuw R, Ross CJD, Liu G, Carleton BC, Maitland-van der Zee AH. Outcome definition influences the relationship between genetic polymorphisms of ERCC1, ERCC2, SLC22A2 and cisplatin nephrotoxicity in adult testicular cancer patients. Genes (Basel). 2019;10;pii: E364. doi: 10.3390/genes10050364

  9. Tanoshima R, Khan A, Biala AK, Trueman JN, Drögemöller BI, Wright GEB, Hasbullah JS, Groeneweg GSS, Ross CJD, Carleton BC. Analyses of Adverse Drug Reactions Nationwide Active Surveillance Network: Canadian Pharmacogenomics Network for Drug Safety (CPNDS) database. J Clin Pharmaco. 019;59:356-63

  10. Johnstone DL, Al-Shekaili HH, Tarailo-Graovac M, Wolf NI, Ivy AS, Roussell Y, Kernohan KD, Kosuta C, Ban K, van Roermund CWT, Al-Thihli K, Abdelrahim RA, Haaxma CA, Olson H, Demarest S, Sigurdardottir LY, Arnold GL, Gerkes E, Bosma M, Ciapaite J, Jans J, Koolen DA, Kamsteeg EJ, Drögemöller B, Ross CJ, Cho MT, Wasserman W, Bui T, Violante S,  Houten SM, Wevers R, Lines MA, Ekker M, Dyment DA, Boycott KM, Lepage N, Wanders RJA, Verhoeven-Duif N, Friedman JM, Pena IA*, van Karnebeek CDM*. PLPHP deficiency: Clinical, genetic, biochemical, and mechanistic insights. Brain. 2019;142:542-59

  11. Pérez-Torras S, Mata-Ventosa A, Drögemöller B, Tarailo-Graovac M, Meijer J, Meinsma R, van Cruchten AG, Kulik W, Viel-Oliva A, Bidon-Chanal A, Ross CJ, Wassermann WW, van Karnebeek CD, Pastor-Anglada M, van Kuilenburg ABP. Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure. Biochim Biophys Acta Mol Basis Dis. 2019; pii: S0925-4439(19)30013-4.

  12. Wen X-Y, Rakic B, Brand-Arzamendi K, Tarailo-Graovac M, Willems A, Huijben K, Pan X, El-Rass S, Selby K, Philip A, Yun J, Lehman AM, Zijlstra F, Bakar AA, Drögemöller B, Ross CJ, Wasserman WW, Vallance H, van Scherpenzeel M, Karbassi, Hoskings M, Wevers RA, Pshezhetsky AV,  van Karnebeek CDM, Lefeber DJ. Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function. JCI Insight; doi: 10.1172/jci.insight. 2018;3:pii: 122373.

  13. Drögemöller BI, Brooks B, Critchley C, Monzon JG, Wright GEB, Liu G, Renouf DJ, Kollmannsberger CK, Bedard PL, Hayden MR, Gelmon KA, Carleton BC, Ross CJD. Further evidence for the role of ACYP2 and WFS1 pharmacogenomic variants in the development of cisplatin-induced ototoxicity in testicular cancer patients. Clin Cancer Res. Clin Cancer Res. 2018;24(8):1866-71.

  14. Kowalec K*, Wright GEB*, Drögemöller BI, Aminkeng F, Bhavsar AP, Kingwell E, Yoshida EM, Traboulsee A, Marrie RA, Kremenchutzky M, Campbell TL, Duquette P, Chalasani N, Wadelius M, Hallberg P, Xia Z, De Jager PL, Denny JC, Davis MF, Ross CJD, Tremlett H, Carleton BC. Common variation near IRF6 is associated with IFN-β-induced liver injury in multiple sclerosis. Nat Genet. 2018;50(8):1081-5.
    *These authors contributed equally to the work

  15. Schlingmann KP, Bandulik S, Mammen C, Jensen RH, Tarailo-Graovac M, Baumann M, König J, Lee JJY, Drögemöller B, Imminger K, Beck B, Altmüller J, Thiele H, Waldegger S, van`t Hoff W, Kleta R, Warth R, Vilsen B, van Karnebeek CDM, Bockenhauer D, Konrad M. Germline de-novo mutations in ATP1A1 cause renal hypomagnesemia, refractory seizures and intellectual disability. Am J Hum Genet. 2018;103(5):808-16.

  16. Horvath GA, Zhao Y, Tarailo-Graovac M, Boelman C, Gill H, Shyr C, Lee J, Blydt-Hansen I, Drögemöller BI, Moreland J, Ross CJ, Wasserman WW, Masotti A, Slesinger PA, van Karnebeek CDM. Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype. Neuroscience. 2018;384:152-64

  17. van Kuilenburg ABP, Tarailo-Graovac M, Meijer J, Drögemöller B, Vockley J, Maurer D, Dobritzsch D, Ross CJ, Wasserman W, Meinsma R, Zoetekouw L, van Karnebeek CDM. 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. Hum Mutat. 2018;39(7):947-53.

  18. Drögemöller BI*, Monzon JG*, Bhavsar AP, Borrie AE, Brooks B, Wright GEB, Liu G, Renouf DJ, Kollmannsberger CK, Bedard PL, Aminkeng F, Amstutz U, Hildebrand CA, Gunaretnam EP, Critchley C, Chen Z, Brunham LR, Hayden MR, Ross CJD, Gelmon KA, Carleton BC. Association Between SLC16A5 Genetic Variation and Cisplatin-Induced Ototoxic Effects in Adult Patients With Testicular Cancer. JAMA Oncol. 2017;3(11):1558-62.  
    *These authors contributed equally to this publication.       

  19. 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 2017;18(2):105-20. 

  20. hackseq Organizing Committee 2016. hackseq: Catalyzing collaboration between biological and computational scientists via hackathon. F1000Research 2017, 6:197.

  21. Tarailo-Graovac M*, Drögemöller BI*, Wasserman WW, Ross CJD, van den Ouweland AMW, Darin N, Kollberg G, van Karnebeek CDM, Blomqvist M. Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease. Orphanet J Rare Dis. 2017;12(1):28.             
    *These authors contributed equally to this publication.       

  22. Matthews AM, Tarailo-Graovac M, Price EM, Blydt-Hansen I, Ghani A, Drögemöller BI, Robinson WP, Ross CJ, Wasserman WW, Siden H, van Karnebeek CD. 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. Eur J Med Genet. 2017;60(10):548-52.

  23. 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. 2017;31:57-62.

  24. 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. 2016;26(5):235-42.

  25. Röhrich C*, Drögemöller B*, Ikediobi O, van der Merwe L, Grobbelaar N, Wright G, 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. 2016;32(6):529-38.    
    *These authors contributed equally to this publication. 

  26. JJY, 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. 2016;374(23):2246-55. 

  27. 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 2016;3:1-5

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

  29. 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. 2016;118(1):21-7.

  30. Dodgen T, Drögemöller B, Wright G, Warnich L, Steffens F, Cromarty D, Alessandrini M, Pepper M. Evaluation of predictive CYP2C19 genotyping assays relative to measured phenotype in a demographic South African population. Pharmacogenomics. 2015;16(12):1343-54.

  31. Drögemöller B, Niehaus D, Chiliza B, van der Merwe L, Asmal L, Malhotra A, Wright G, Emsley R, Warnich L. Patterns of variation influencing antipsychotic treatment outcomes in South African first episode schizophrenia patients. Pharmacogenomics. 2014;15(2):189-99. 

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

  33. Drögemöller B, Wright G, Niehaus D, Emsley R, Warnich L. Next generation sequencing of pharmacogenes: a critical analysis focusing on schizophrenia treatment. Pharmacogenet Genomics. 2013;23(12):666-74.      
         
  34. 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. 2013;4:17.   
    *These authors contributed equally to this publication. 

  35. Dodgen T, Hochfeld W, Fickl H, Asfaha S, Durandt C, Rheeder P, Drögemöller B, Wright G, Warnich L, Labuschagne D de J, van Schalkwyk A, Gaedigk A, Pepper M. Introduction of the AmpliChip CYP450 Test to a South African cohort: a platform comparative prospective cohort study. BMC Med Genet. 2013;14:20. 

  36. Wright G, Niehaus D, van der Merwe L, Koen L, Korkie L, Kinnear C, Drögemöller B, Warnich L. Association of MB-COMT polymorphisms with schizophrenia-susceptibility and symptom severity in an African cohort. Prog Neuropsychopharmacol Biol Psychiatry. 2012;39(1):163-9.
      
  37. van Tuyll van Serooskerken A*, Drögemöller B*, Te Velde K, Bladergroen R, Steijlen P, Poblete-Gutiérrez P, van Geel M, van Heerden C, Warnich L, Frank J. Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestryBr J Dermatol.2012;166(2):261-5.   
    *These authors contributed equally to this publication.

  38. Wright G, Niehaus D, Koen L, Drögemöller B, Warnich L. Psychiatric genetics in South Africa: cutting a rough diamond. Afr J Psychiatry (Johannesbg). 2011;14:355-66.   

  39. Drögemöller B, Wright G, Niehaus D, Emsley R, Warnich L. Whole genome resequencing in pharmacogenomics: moving away from past disparities to globally representative applications. Pharmacogenomics. 2011;12(12):1717-28.

  40. Warnich L, Drögemöller B, Pepper M, Dandara C, Wright G. Pharmacogenomic research in South Africa: lessons learned and future opportunities in the rainbow nation. Curr Pharmacogenomics Person Med.  2011;9(3):191-207.    
  41. Drögemöller B, Wright G, Niehaus D, Koen L, Malan S, Da Silva D, Hillermann-Rebello R, La Grange A, Venter M, Warnich L. Characterization of the genetic profileof CYP2C19 in two South African populations.Pharmacogenomics. 2010;11(8):1095–103.

  42. Wright G, Niehaus D, Drögemöller B, 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. 2010;74(4):340-50.