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

Por Warnich, Louise, Drögemöller, Britt I, Pepper, Michael S, Dandara, Collet, Wright, Galen E.B
Publicado em 2011

A systematic comparison of pharmacogene star allele calling bioinformatics algorithms: a focus on CYP2D6 genotyping

Por Twesigomwe, David, Wright, Galen E. B., Drögemöller, Britt I., da Rocha, Jorge, Lombard, Zané, Hazelhurst, Scott
Publicado no NPJ Genom Med (2020)

De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome

Por Langlois, Sylvie, Tarailo-Graovac, Maja, Sayson, Bryan, Drögemöller, Britt, Swenerton, Anne, Ross, Colin JD, Wasserman, Wyeth W, van Karnebeek, Clara DM
Publicado no Eur J Hum Genet (2016)

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

Por Röhrich, Carola R., Drögemöller, Britt I., Ikediobi, Ogechi, van der Merwe, Lize, Grobbelaar, Nelis, Wright, Galen E.B., McGregor, Nathaniel, Warnich, Louise
Publicado no AIDS Res Hum Retroviruses (2016)

Characterization of the genetic variation present in CYP3A4 in three South African populations

Por Drögemöller, Britt, Plummer, Marieth, Korkie, Lundi, Agenbag, Gloudi, Dunaiski, Anke, Niehaus, Dana, Koen, Liezl, Gebhardt, Stefan, Schneider, Nicol, Olckers, Antonel, Wright, Galen, Warnich, Louise
Publicado em 2013

Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes

Por Anastasio, Natascia, Tarailo-Graovac, Maja, Al-Khalifah, Reem, Legault, Laurent, Drogemoller, Britt, Ross, Colin J.D., Wasserman, Wyeth W., van Karnebeek, Clara, Buhas, Daniela
Publicado no JIMD Rep (2016)

Pharmacogenomics of Vincristine‐Induced Peripheral Neuropathy Implicates Pharmacokinetic and Inherited Neuropathy Genes

Por Wright, Galen E.B., Amstutz, Ursula, Drögemöller, Britt I., Shih, Joanne, Rassekh, Shahrad R., Hayden, Michael R., Carleton, Bruce C., Ross, Colin J.D.
Publicado no Clin Pharmacol Ther (2018)

Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy

Por Lee, Jessica J. Y., van Karnebeek, Clara D. M., Drögemoller, Britt, Shyr, Casper, Tarailo-Graovac, Maja, Eydoux, Patrice, Ross, Colin J., Wasserman, Wyeth W., Björnson, Bruce, Wu, John K.
Publicado no Child Neurol Open (2016)

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

Por Tarailo-Graovac, Maja, Drögemöller, Britt I., Wasserman, Wyeth W., Ross, Colin J. D., van den Ouweland, Ans M. W., Darin, Niklas, Kollberg, Gittan, van Karnebeek, Clara D. M., Blomqvist, Maria
Publicado no Orphanet J Rare Dis (2017)

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

Por Dodgen, Tyren M, Hochfeld, Warren E, Fickl, Heidi, Asfaha, Sahle M, Durandt, Chrisna, Rheeder, Paul, Drögemöller, Britt I, Wright, Galen E B, Warnich, Louise, Labuschagne, Christiaan DJ, van Schalkwyk, Antoinette, Gaedigk, Andrea, Pepper, Michael S
Publicado em 2013

Gain-of-function KCNJ6 mutation in a severe hyperkinetic movement disorder phenotype

Por Horvath, Gabriella A., Zhao, Yulin, Tarailo-Graovac, Maja, Boelman, Cyrus, Gill, Harinder, Shyr, Casper, Lee, James, Blydt-Hansen, Ingrid, Drögemöller, Britt I., Moreland, Jacqueline, Ross, Colin J., Wasserman, Wyeth W., Masotti, Andrea, Slesinger, Paul A., van Karnebeek, Clara D.M.
Publicado no Neuroscience (2018)

Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability

Por Schlingmann, Karl P., Bandulik, Sascha, Mammen, Cherry, Tarailo-Graovac, Maja, Holm, Rikke, Baumann, Matthias, König, Jens, Lee, Jessica J.Y., Drögemöller, Britt, Imminger, Katrin, Beck, Bodo B., Altmüller, Janine, Thiele, Holger, Waldegger, Siegfried, van’t Hoff, William, Kleta, Robert, Warth, Richard, van Karnebeek, Clara D.M., Vilsen, Bente, Bockenhauer, Detlef, Konrad, Martin
Publicado no Am J Hum Genet (2018)

Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease

Por Wright, Galen E.B., Collins, Jennifer A., Kay, Chris, McDonald, Cassandra, Dolzhenko, Egor, Xia, Qingwen, Bečanović, Kristina, Drögemöller, Britt I., Semaka, Alicia, Nguyen, Charlotte M., Trost, Brett, Richards, Fiona, Bijlsma, Emilia K., Squitieri, Ferdinando, Ross, Colin J.D., Scherer, Stephen W., Eberle, Michael A., Yuen, Ryan K.C., Hayden, Michael R.
Publicado no Am J Hum Genet (2019)

Outcome Definition Influences the Relationship between Genetic Polymorphisms of ERCC1, ERCC2, SLC22A2 and Cisplatin Nephrotoxicity in Adult Testicular Cancer Patients

Por Zazuli, Zulfan, Otten, Leila S., Drögemöller, Britt I., Medeiros, Mara, Monzon, Jose G., Wright, Galen E. B., Kollmannsberger, Christian K., Bedard, Philippe L., Chen, Zhuo, Gelmon, Karen A., McGoldrick, Nicole, Kitchlu, Abhijat, Vijverberg, Susanne J. H., Masereeuw, Rosalinde, Ross, Colin J. D., Liu, Geoffrey, Carleton, Bruce C., Maitland-van der Zee, Anke H.
Publicado no Genes (Basel) (2019)

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

Por Drögemöller, Britt I., Monzon, Jose G., Bhavsar, Amit P., Borrie, Adrienne E., Brooks, Beth, Wright, Galen E. B., Liu, Geoffrey, Renouf, Daniel J., Kollmannsberger, Christian K., Bedard, Philippe L., Aminkeng, Folefac, Amstutz, Ursula, Hildebrand, Claudette A., Gunaretnam, Erandika P., Critchley, Carol, Chen, Zhuo, Brunham, Liam R., Hayden, Michael R., Ross, Colin J. D., Gelmon, Karen A., Carleton, Bruce C.
Publicado no JAMA Oncol (2017)

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

Por Kowalec, Kaarina, Wright, Galen EB, Drögemöller, Britt I, Aminkeng, Folefac, Bhavsar, Amit P, Kingwell, Elaine, Yoshida, Eric M, Traboulsee, Anthony, Marrie, Ruth Ann, Kremenchutzky, Marcelo, Campbell, Trudy L, Duquette, Pierre, Chalasani, Naga, Wadelius, Mia, Hallberg, Pär, Xia, Zongqi, Jager, Philip L De, Denny, Joshua C, Davis, Mary F, Ross, Colin JD, Tremlett, Helen, Carleton, Bruce C
Publicado no Nat Genet (2018)

Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function

Por Wen, Xiao-Yan, Tarailo-Graovac, Maja, Brand-Arzamendi, Koroboshka, Willems, Anke, Rakic, Bojana, Huijben, Karin, Da Silva, Afitz, Pan, Xuefang, El-Rass, Suzan, Ng, Robin, Selby, Katheryn, Philip, Anju Mary, Yun, Junghwa, Ye, X. Cynthia, Ross, Colin J., Lehman, Anna M., Zijlstra, Fokje, Abu Bakar, N., Drögemöller, Britt, Moreland, Jacqueline, Wasserman, Wyeth W., Vallance, Hilary, van Scherpenzeel, Monique, Karbassi, Farhad, Hoskings, Martin, Engelke, Udo, de Brouwer, Arjan, Wevers, Ron A., Pshezhetsky, Alexey V., van Karnebeek, Clara D.M., Lefeber, Dirk J.
Publicado no JCI Insight (2018)

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

Por van Karnebeek, Clara D.M., Ramos, Rúben J., Wen, Xiao-Yan, Tarailo-Graovac, Maja, Gleeson, Joseph G., Skrypnyk, Cristina, Brand-Arzamendi, Koroboshka, Karbassi, Farhad, Issa, Mahmoud Y., van der Lee, Robin, Drögemöller, Britt I., Koster, Janet, Rousseau, Justine, Campeau, Philippe M., Wang, Youdong, Cao, Feng, Li, Meng, Ruiter, Jos, Ciapaite, Jolita, Kluijtmans, Leo A.J., Willemsen, Michel A.A.P., Jans, Judith J., Ross, Colin J., Wintjes, Liesbeth T., Rodenburg, Richard J., Huigen, Marleen C.D.G., Jia, Zhengping, Waterham, Hans R., Wasserman, Wyeth W., Wanders, Ronald J.A., Verhoeven-Duif, Nanda M., Zaki, Maha S., Wevers, Ron A.
Publicado no Am J Hum Genet (2019)

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

Por Johnstone, Devon L, Al-Shekaili, Hilal H, Tarailo-Graovac, Maja, Wolf, Nicole I, Ivy, Autumn S, Demarest, Scott, Roussel, Yann, Ciapaite, Jolita, van Roermund, Carlo W T, Kernohan, Kristin D, Kosuta, Ceres, Ban, Kevin, Ito, Yoko, McBride, Skye, Al-Thihli, Khalid, Abdelrahim, Rana A, Koul, Roshan, Al Futaisi, Amna, Haaxma, Charlotte A, Olson, Heather, Sigurdardottir, Laufey Yr, Arnold, Georgianne L, Gerkes, Erica H, Boon, M, Heiner-Fokkema, M Rebecca, Noble, Sandra, Bosma, Marjolein, Jans, Judith, Koolen, David A, Kamsteeg, Erik-Jan, Drögemöller, Britt, Ross, Colin J, Majewski, Jacek, Cho, Megan T, Begtrup, Amber, Wasserman, Wyeth W, Bui, Tuan, Brimble, Elise, Violante, Sara, Houten, Sander M, Wevers, Ron A, van Faassen, Martijn, Kema, Ido P, Lepage, Nathalie, Lines, Matthew A, Dyment, David A, Wanders, Ronald J A, Verhoeven-Duif, Nanda, Ekker, Marc, Boycott, Kym M, Friedman, Jan M, Pena, Izabella A, van Karnebeek, Clara D M
Publicado no Brain (2019)