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

Yazar: Warnich, Louise, Drögemöller, Britt I, Pepper, Michael S, Dandara, Collet, Wright, Galen E.B
Baskı/Yayın Bilgisi 2011

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

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

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

Yazar: Langlois, Sylvie, Tarailo-Graovac, Maja, Sayson, Bryan, Drögemöller, Britt, Swenerton, Anne, Ross, Colin JD, Wasserman, Wyeth W, van Karnebeek, Clara DM
Yayımlandı 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

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

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

Yazar: Drögemöller, Britt, Plummer, Marieth, Korkie, Lundi, Agenbag, Gloudi, Dunaiski, Anke, Niehaus, Dana, Koen, Liezl, Gebhardt, Stefan, Schneider, Nicol, Olckers, Antonel, Wright, Galen, Warnich, Louise
Baskı/Yayın Bilgisi 2013

Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes

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

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

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

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

Yazar: 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.
Yayımlandı Child Neurol Open (2016)

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

Yazar: 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
Yayımlandı Orphanet J Rare Dis (2017)

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

Yazar: 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.
Yayımlandı NPJ Genom Med (2021)

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

Yazar: 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
Baskı/Yayın Bilgisi 2013

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

Yazar: 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.
Yayımlandı Neuroscience (2018)

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

Yazar: 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
Yayımlandı Am J Hum Genet (2018)

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

Yazar: 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
Yayımlandı Mol Genet Metab Rep (2021)

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

Yazar: 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.
Yayımlandı 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

Yazar: 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.
Yayımlandı Genes (Basel) (2019)

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

Yazar: 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.
Yayımlandı JAMA Oncol (2017)

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

Yazar: 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
Yayımlandı Nat Genet (2018)

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

Yazar: 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.
Yayımlandı JCI Insight (2018)

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

Yazar: 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.
Yayımlandı Am J Hum Genet (2019)