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

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

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

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

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

av Langlois, Sylvie, Tarailo-Graovac, Maja, Sayson, Bryan, Drögemöller, Britt, Swenerton, Anne, Ross, Colin JD, Wasserman, Wyeth W, van Karnebeek, Clara DM
I publikationen 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

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

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

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

Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes

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

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

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

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

av 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.
I publikationen Child Neurol Open (2016)

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

av 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
I publikationen Orphanet J Rare Dis (2017)

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

av 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.
I publikationen NPJ Genom Med (2021)

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

av 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
Publicerad 2013

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

av 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.
I publikationen Neuroscience (2018)

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

av 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
I publikationen Am J Hum Genet (2018)

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

av 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
I publikationen Mol Genet Metab Rep (2021)

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

av 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.
I publikationen 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

av 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.
I publikationen Genes (Basel) (2019)

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

av 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.
I publikationen JAMA Oncol (2017)

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

av 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
I publikationen Nat Genet (2018)

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

av 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.
I publikationen JCI Insight (2018)

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

av 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.
I publikationen Am J Hum Genet (2019)