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

od Warnich, Louise, Drögemöller, Britt I, Pepper, Michael S, Dandara, Collet, Wright, Galen E.B
Wydane 2011

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

od Twesigomwe, David, Wright, Galen E. B., Drögemöller, Britt I., da Rocha, Jorge, Lombard, Zané, Hazelhurst, Scott
Wydane w NPJ Genom Med (2020)

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

od Langlois, Sylvie, Tarailo-Graovac, Maja, Sayson, Bryan, Drögemöller, Britt, Swenerton, Anne, Ross, Colin JD, Wasserman, Wyeth W, van Karnebeek, Clara DM
Wydane w 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

od Röhrich, Carola R., Drögemöller, Britt I., Ikediobi, Ogechi, van der Merwe, Lize, Grobbelaar, Nelis, Wright, Galen E.B., McGregor, Nathaniel, Warnich, Louise
Wydane w AIDS Res Hum Retroviruses (2016)

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

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

Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes

od Anastasio, Natascia, Tarailo-Graovac, Maja, Al-Khalifah, Reem, Legault, Laurent, Drogemoller, Britt, Ross, Colin J.D., Wasserman, Wyeth W., van Karnebeek, Clara, Buhas, Daniela
Wydane w JIMD Rep (2016)

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

od Wright, Galen E.B., Amstutz, Ursula, Drögemöller, Britt I., Shih, Joanne, Rassekh, Shahrad R., Hayden, Michael R., Carleton, Bruce C., Ross, Colin J.D.
Wydane w Clin Pharmacol Ther (2018)

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

od 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.
Wydane w Child Neurol Open (2016)

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

od 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
Wydane w Orphanet J Rare Dis (2017)

Transcriptome-wide association study uncovers the role of essential genes in anthracycline-induced cardiotoxicity

od Scott, Erika N., Wright, Galen E. B., Drögemöller, Britt I., Hasbullah, Jafar S., Gunaretnam, Erandika P., Miao, Fudan, Bhavsar, Amit P., Shen, Fei, Schneider, Bryan P., Carleton, Bruce C., Ross, Colin J. D.
Wydane w NPJ Genom Med (2021)

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

od 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
Wydane 2013

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

od 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.
Wydane w Neuroscience (2018)

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

od 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
Wydane w Am J Hum Genet (2018)

Adult GAMT deficiency: A literature review and report of two siblings

od Modi, Bhavi P., Khan, Haq Nawaz, van der Lee, Robin, Wasim, Muhammad, Haaxma, Charlotte A., Richmond, Phillip A., Drögemöller, Britt, Shah, Suleman, Salomons, Gajja, van der Kloet, Frans M., Vaz, Fred M., van der Crabben, Saskia N., Ross, Colin J., Wasserman, Wyeth W., van Karnebeek, Clara D.M., Awan, Fazli Rabbi
Wydane w Mol Genet Metab Rep (2021)

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

od 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.
Wydane w 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

od 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.
Wydane w Genes (Basel) (2019)

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

od 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.
Wydane w JAMA Oncol (2017)

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

od 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
Wydane w Nat Genet (2018)

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

od 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.
Wydane w JCI Insight (2018)

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

od 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.
Wydane w Am J Hum Genet (2019)