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Items: 24

1.

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

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.

Nat Genet. 2018 Aug;50(8):1081-1085. doi: 10.1038/s41588-018-0168-y. Epub 2018 Jul 16.

PMID:
30013178
2.

Pharmacogenomics of vincristine-induced peripheral neuropathy implicates pharmacokinetic and inherited neuropathy genes.

Wright GEB, Amstutz U, Drögemöller BI, Shih J, Rassekh SR, Hayden MR, Carleton BC, Ross CJD; Canadian Pharmacogenomics Network for Drug Safety Consortium.

Clin Pharmacol Ther. 2018 Jul 12. doi: 10.1002/cpt.1179. [Epub ahead of print]

PMID:
29999516
3.

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

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.

Neuroscience. 2018 Aug 1;384:152-164. doi: 10.1016/j.neuroscience.2018.05.031. Epub 2018 May 29.

PMID:
29852244
4.

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

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.

Clin Cancer Res. 2018 Apr 15;24(8):1866-1871. doi: 10.1158/1078-0432.CCR-17-2810. Epub 2018 Jan 22.

PMID:
29358504
5.

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.

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.

Eur J Med Genet. 2017 Oct;60(10):548-552. doi: 10.1016/j.ejmg.2017.07.015. Epub 2017 Aug 1.

PMID:
28778789
6.

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

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.

JAMA Oncol. 2017 Nov 1;3(11):1558-1562. doi: 10.1001/jamaoncol.2017.0502.

7.

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

Tarailo-Graovac M, Drögemöller BI, Wasserman WW, Ross CJ, van den Ouweland AM, Darin N, Kollberg G, van Karnebeek CD, Blomqvist M.

Orphanet J Rare Dis. 2017 Feb 10;12(1):28. doi: 10.1186/s13023-017-0584-6.

8.

Fine-mapping of antipsychotic response genome-wide association studies reveals novel regulatory mechanisms.

Ovenden ES, Drögemöller BI, van der Merwe L, Chiliza B, Asmal L, Emsley RA, Warnich L.

Pharmacogenomics. 2017 Jan;18(2):105-120. doi: 10.2217/pgs-2016-0108. Epub 2016 Dec 19.

PMID:
27992301
9.

Exome Sequencing and the Management of Neurometabolic Disorders.

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.

N Engl J Med. 2016 Jun 9;374(23):2246-55. doi: 10.1056/NEJMoa1515792. Epub 2016 May 25.

10.

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

Drögemöller BI, Emsley R, Chiliza B, van der Merwe L, Wright GE, Daya M, Hoal E, Malhotra AK, Lencz T, Robinson DG, Zhang JP, Asmal L, Niehaus DJ, Warnich L.

Pharmacogenet Genomics. 2016 May;26(5):235-42. doi: 10.1097/FPC.0000000000000213.

PMID:
26928376
11.

CYP2B6*6 and CYP2B6*18 Predict Long-Term Efavirenz Exposure Measured in Hair Samples in HIV-Positive South African Women.

Röhrich CR, Drögemöller BI, Ikediobi O, van der Merwe L, Grobbelaar N, Wright GE, McGregor N, Warnich L.

AIDS Res Hum Retroviruses. 2016 Jun;32(6):529-38. doi: 10.1089/AID.2015.0048. Epub 2016 Jan 29.

12.

Evaluation of predictive CYP2C19 genotyping assays relative to measured phenotype in a South African cohort.

Dodgen TM, Drögemöller BI, Wright GE, Warnich L, Steffens FE, Cromarty AD, Alessandrini M, Pepper MS.

Pharmacogenomics. 2015;16(12):1343-54. doi: 10.2217/pgs.15.80. Epub 2015 Aug 5.

PMID:
26244421
13.

Maintaining the balance: both gain- and loss-of-function KCNA2 mutants cause epileptic encephalopathy.

Drögemöller BI.

Clin Genet. 2015 Aug;88(2):137-9. doi: 10.1111/cge.12615. Epub 2015 Jun 3. No abstract available.

PMID:
25997620
14.

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

Drögemöller BI, Wright GE, Warnich L.

Expert Opin Drug Metab Toxicol. 2014 Jun;10(6):873-84. doi: 10.1517/17425255.2014.903239. Epub 2014 Mar 28. Review.

PMID:
24673405
15.

Patterns of variation influencing antipsychotic treatment outcomes in South African first-episode schizophrenia patients.

Drogemöller BI, Niehaus DJ, Chiliza B, van der Merwe L, Asmal L, Malhotra AK, Wright GE, Emsley R, Warnich L.

Pharmacogenomics. 2014 Feb;15(2):189-99. doi: 10.2217/pgs.13.218.

PMID:
24444409
16.

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

Drögemöller BI, Wright GE, Niehaus DJ, Emsley R, Warnich L.

Pharmacogenet Genomics. 2013 Dec;23(12):666-74. doi: 10.1097/FPC.0000000000000006.

PMID:
24141736
17.

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

Dodgen TM, Hochfeld WE, Fickl H, Asfaha SM, Durandt C, Rheeder P, Drögemöller BI, Wright GE, Warnich L, Labuschagne CD, van Schalkwyk A, Gaedigk A, Pepper MS.

BMC Med Genet. 2013 Jan 29;14:20. doi: 10.1186/1471-2350-14-20.

18.

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

Wright GE, Niehaus DJ, van der Merwe L, Koen L, Korkie LJ, Kinnear CJ, Drögemöller BI, Warnich L.

Prog Neuropsychopharmacol Biol Psychiatry. 2012 Oct 1;39(1):163-9. doi: 10.1016/j.pnpbp.2012.06.006. Epub 2012 Jun 13.

PMID:
22705295
19.

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

Warnich L, Drögemöller BI, Pepper MS, Dandara C, Wright GE.

Curr Pharmacogenomics Person Med. 2011 Sep;9(3):191-207.

20.

Psychiatric genetics in South Africa: cutting a rough diamond.

Wright GE, Niehaus DJ, Koen L, Drögemöller BI, Warnich L.

Afr J Psychiatry (Johannesbg). 2011 Nov;14(5):355-66. doi: http://dx.doi.org/10.4314/ajpsy.v14i5.2. Review.

PMID:
22183465
21.

Whole-genome resequencing in pharmacogenomics: moving away from past disparities to globally representative applications.

Drögemöller BI, Wright GE, Niehaus DJ, Emsley RA, Warnich L.

Pharmacogenomics. 2011 Dec;12(12):1717-28. doi: 10.2217/pgs.11.119.

PMID:
22118054
22.

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

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.

Br J Dermatol. 2012 Feb;166(2):261-5. doi: 10.1111/j.1365-2133.2011.10606.x.

PMID:
21910705
23.

Characterization of the genetic profile of CYP2C19 in two South African populations.

Drögemöller BI, Wright GE, Niehaus DJ, Koen L, Malan S, Da Silva DM, Hillermann-Rebello R, La Grange AM, Venter M, Warnich L.

Pharmacogenomics. 2010 Aug;11(8):1095-103. doi: 10.2217/pgs.10.90.

PMID:
20712527
24.

Elucidation of CYP2D6 genetic diversity in a unique African population: implications for the future application of pharmacogenetics in the Xhosa population.

Wright GE, Niehaus DJ, Drögemöller BI, Koen L, Gaedigk A, Warnich L.

Ann Hum Genet. 2010 Jul;74(4):340-50. doi: 10.1111/j.1469-1809.2010.00585.x.

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