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

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

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

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

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

di Langlois, Sylvie, Tarailo-Graovac, Maja, Sayson, Bryan, Drögemöller, Britt, Swenerton, Anne, Ross, Colin JD, Wasserman, Wyeth W, van Karnebeek, Clara DM
Pubblicato in 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

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

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

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

Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes

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

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

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

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

di 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.
Pubblicato in Child Neurol Open (2016)

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

di 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
Pubblicato in Orphanet J Rare Dis (2017)

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

di 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.
Pubblicato in NPJ Genom Med (2021)

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

di 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
Pubblicazione 2013

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

di 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.
Pubblicato in Neuroscience (2018)

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

di 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
Pubblicato in Am J Hum Genet (2018)

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

di 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
Pubblicato in Mol Genet Metab Rep (2021)

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

di 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.
Pubblicato in 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

di 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.
Pubblicato in Genes (Basel) (2019)

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

di 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.
Pubblicato in JAMA Oncol (2017)

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

di 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
Pubblicato in Nat Genet (2018)

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

di 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.
Pubblicato in JCI Insight (2018)

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

di 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.
Pubblicato in Am J Hum Genet (2019)