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  2021 (5)
Chileshe, J.; Kerr, T. J.; Kinnear, C.; Buss, P. E.; van Helden, P. D.; Warren, R. M.; Miller, M. A.; and Parsons, S. D. C. Cytokine biomarker discovery in the white rhinoceros (Ceratotherium simum). Veterinary Immunology and Immunopathology, 232: 110168. February 2021.
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Quistrebert, J.; Orlova, M.; Kerner, G.; Ton, L. T.; Luong, N. T.; Danh, N. T.; Vincent, Q. B.; Jabot-Hanin, F.; Seeleuthner, Y.; Bustamante, J.; Boisson-Dupuis, S.; Huong, N. T.; Ba, N. N.; Casanova, J.; Delacourt, C.; Hoal, E. G.; Alcaïs, A.; Thai, V. H.; Thành, L. T.; Abel, L.; Schurr, E.; and Cobat, A. Genome-wide association study of resistance to Mycobacterium tuberculosis infection identifies a locus at 10q26.2 in three distinct populations. PLoS genetics, 17(3): e1009392. March 2021.
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Glanzmann, B.; Jooste, T.; Ghoor, S.; Gordon, R.; Mia, R.; Mao, J.; Li, H.; Charls, P.; Douman, C.; Kotze, M. J.; Peeters, A. V.; Loots, G.; Esser, M.; Tiemessen, C. T.; Wilkinson, R. J.; Louw, J.; Gray, G.; Warren, R. M.; Möller, M.; and Kinnear, C. Human whole genome sequencing in South Africa. Scientific Reports, 11(1): 606. January 2021.
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Eeden, G.; Uren, C.; Möller, M.; and Henn, B. M. Inferring Recombination Patterns In African Populations. Human Molecular Genetics. January 2021.
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de Jager, D.; Glanzmann, B.; Möller, M.; Hoal, E.; van Helden, P.; Harper, C.; and Bloomer, P. High diversity, inbreeding and a dynamic Pleistocene demographic history revealed by African buffalo genomes. Scientific Reports, 11(1): 4540. February 2021.
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  2020 (8)
Kroon, E. E.; Kinnear, C. J.; Orlova, M.; Fischinger, S.; Shin, S.; Boolay, S.; Walzl, G.; Jacobs, A.; Wilkinson, R. J.; Alter, G.; Schurr, E.; Hoal, E. G.; and Möller, M. An observational study identifying highly tuberculosis-exposed, HIV-1-positive but persistently TB, tuberculin and IGRA negative persons with M. tuberculosis specific antibodies in Cape Town, South Africa. EBioMedicine, 61: 103053. November 2020.
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Bezuidenhout, H.; Bayley, S.; Smit, L.; Kinnear, C.; Möller, M.; Uren, C.; and Urban, M. F. Hyperphosphatasia with mental retardation syndrome type 4 in three unrelated South African patients. American Journal of Medical Genetics. Part A, 182(10): 2230–2235. October 2020.
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Uren, C.; Hoal, E. G.; and Möller, M. Mycobacterium tuberculosis complex and human co-adaptation: a two-way street complicating host susceptibility to TB. Human Molecular Genetics. December 2020.
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Bruiners, N.; Schurz, H.; Daya, M.; Salie, M.; van Helden, P. D.; Kinnear, C. J.; Hoal, E. G.; Möller, M.; and Gey van Pittius, N. C. A regulatory variant in the C1Q gene cluster is associated with tuberculosis susceptibility and C1qA plasma levels in a South African population. Immunogenetics, 72(5): 305–314. July 2020.
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Uren, C.; Hoal, E. G.; and Möller, M. Putting RFMix and ADMIXTURE to the test in a complex admixed population. BMC genetics, 21(1): 40. 2020.
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Möller, M.; and Kinnear, C. J. Human global and population-specific genetic susceptibility to Mycobacterium tuberculosis infection and disease. Current Opinion in Pulmonary Medicine, 26(3): 302–310. May 2020.
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Swart, Y.; van Eeden, G.; Sparks, A.; Uren, C.; and Möller, M. Prospective avenues for human population genomics and disease mapping in southern Africa. Molecular genetics and genomics: MGG. May 2020.
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Glanzmann, B.; Möller, M.; Schoeman, M.; Urban, M.; van Helden, P. D.; Frigati, L.; Grewal, R.; Pieters, H.; Loos, B.; Hoal, E. G.; Glashoff, R. H.; Cornelissen, H.; Rabie, H.; Esser, M. M.; and Kinnear, C. J. Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report. BMC medical genetics, 21(1): 124. June 2020.
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  2019 (7)
van Helden, P. D.; and Hoal, E. G. Mycobacterium tuberculosis: concentrate resources on recent infections. BMJ (Clinical research ed.), 367: l6485. November 2019.
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Tavalire, H. F.; Hoal, E. G.; le Roex, N.; van Helden, P. D.; Ezenwa, V. O.; and Jolles, A. E. Risk alleles for tuberculosis infection associate with reduced immune reactivity in a wild mammalian host. Proceedings. Biological Sciences, 286(1907): 20190914. 2019.
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Warren, R.; Ismail, N.; Chegou, N. N.; Theron, G.; Walzl, G.; Malherbe, S. T.; Kinnear, C. J.; Van der Spuy, G. D.; Goosen, W.; Miller, M. A.; Diacon, A. H.; and Van Helden, P. D. Tuberculosis research in South Africa over the past 30 years: From bench to bedside. South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde, 109(11b): 45–52. December 2019.
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Erjaee, A.; Bagherpour, M.; Van Rooyen, C.; Van den Berg, S.; Kinnear, C. J.; Green, R. J.; and Pepper, M. Primary immunodeficiency in Africa - a review. South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde, 109(8b): 3–11. September 2019.
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Glanzmann, B.; Uren, C.; de Villiers, N.; van Coller, A.; Glashoff, R. H.; Urban, M.; Hoal, E. G.; Esser, M. M.; Möller, M.; and Kinnear, C. J. Primary immunodeficiency diseases in a tuberculosis endemic region: challenges and opportunities. Genes and Immunity, 20(6): 447–454. 2019.
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Schurz, H.; Müller, S. J.; van Helden, P. D.; Tromp, G.; Hoal, E. G.; Kinnear, C. J.; and Möller, M. Evaluating the Accuracy of Imputation Methods in a Five-Way Admixed Population. Frontiers in Genetics, 10: 34. 2019.
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Schurz, H.; Salie, M.; Tromp, G.; Hoal, E. G.; Kinnear, C. J.; and Möller, M. The X chromosome and sex-specific effects in infectious disease susceptibility. Human Genomics, 13(1): 2. January 2019.
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  2018 (12)
Schurz, H.; Kinnear, C. J.; Gignoux, C.; Wojcik, G.; van Helden, P. D.; Tromp, G.; Henn, B.; Hoal, E. G.; and Möller, M. A Sex-Stratified Genome-Wide Association Study of Tuberculosis Using a Multi-Ethnic Genotyping Array. Frontiers in Genetics, 9: 678. 2018.
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Neethling, A.; Engelbrecht, L.; Loos, B.; Kinnear, C.; Theart, R.; Abrahams, S.; Niesler, T.; Mellick, G. D.; Williams, M.; and Bardien, S. Wild-type and mutant (G2019S) leucine-rich repeat kinase 2 (LRRK2) associate with subunits of the translocase of outer mitochondrial membrane (TOM) complex. Experimental Cell Research. December 2018.
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Lin, M.; Siford, R. L.; Martin, A. R.; Nakagome, S.; Möller, M.; Hoal, E. G.; Bustamante, C. D.; Gignoux, C. R.; and Henn, B. M. Rapid evolution of a skin-lightening allele in southern African KhoeSan. Proceedings of the National Academy of Sciences of the United States of America, 115(52): 13324–13329. December 2018.
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Möller, M.; Kinnear, C. J.; Orlova, M.; Kroon, E. E.; van Helden, P. D.; Schurr, E.; and Hoal, E. G. Genetic Resistance to Mycobacterium tuberculosis Infection and Disease. Frontiers in Immunology, 9: 2219. 2018.
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Kroon, E. E.; Coussens, A. K.; Kinnear, C.; Orlova, M.; Möller, M.; Seeger, A.; Wilkinson, R. J.; Hoal, E. G.; and Schurr, E. Neutrophils: Innate Effectors of TB Resistance?. Frontiers in Immunology, 9: 2637. 2018.
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Tavalire, H. F.; Beechler, B. R.; Buss, P. E.; Gorsich, E. E.; Hoal, E. G.; le Roex, N.; Spaan, J. M.; Spaan, R. S.; van Helden, P. D.; Ezenwa, V. O.; and Jolles, A. E. Context-dependent costs and benefits of tuberculosis resistance traits in a wild mammalian host. Ecology and Evolution, 8(24): 12712–12726. December 2018.
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Martin, A. R.; Teferra, S.; Möller, M.; Hoal, E. G.; and Daly, M. J. The critical needs and challenges for genetic architecture studies in Africa. Current Opinion in Genetics & Development, 53: 113–120. September 2018.
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Glanzmann, B.; Uren, C.; de Villiers, N.; van Coller, A.; Glashoff, R. H.; Urban, M.; Hoal, E. G.; Esser, M. M.; Möller, M.; and Kinnear, C. J. Primary immunodeficiency diseases in a tuberculosis endemic region: challenges and opportunities. Genes and Immunity. September 2018.
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Nemat-Gorgani, N.; Hilton, H. G.; Henn, B. M.; Lin, M.; Gignoux, C. R.; Myrick, J. W.; Werely, C. J.; Granka, J. M.; Möller, M.; Hoal, E. G.; Yawata, M.; Yawata, N.; Boelen, L.; Asquith, B.; Parham, P.; and Norman, P. J. Different Selected Mechanisms Attenuated the Inhibitory Interaction of KIR2DL1 with C2+ HLA-C in Two Indigenous Human Populations in Southern Africa. Journal of Immunology (Baltimore, Md.: 1950), 200(8): 2640–2655. April 2018.
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Colli, L.; Milanesi, M.; Vajana, E.; Iamartino, D.; Bomba, L.; Puglisi, F.; Del Corvo, M.; Nicolazzi, E. L.; Ahmed, S. S. E.; Herrera, J. R. V.; Cruz, L.; Zhang, S.; Liang, A.; Hua, G.; Yang, L.; Hao, X.; Zuo, F.; Lai, S.; Wang, S.; Liu, R.; Gong, Y.; Mokhber, M.; Mao, Y.; Guan, F.; Vlaic, A.; Vlaic, B.; Ramunno, L.; Cosenza, G.; Ahmad, A.; Soysal, I.; Ünal, E. Ö; Ketudat-Cairns, M.; Garcia, J. F.; Utsunomiya, Y. T.; Baruselli, P. S.; Amaral, M. E. J.; Parnpai, R.; Drummond, M. G.; Galbusera, P.; Burton, J.; Hoal, E.; Yusnizar, Y.; Sumantri, C.; Moioli, B.; Valentini, A.; Stella, A.; Williams, J. L.; and Ajmone-Marsan, P. New Insights on Water Buffalo Genomic Diversity and Post-Domestication Migration Routes From Medium Density SNP Chip Data. Frontiers in Genetics, 9: 53. 2018.
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Glanzmann, B.; Möller, M.; Moncada-Velez, M.; Peter, J.; Urban, M.; van Helden, P. D.; Hoal, E. G.; de Villiers, N.; Glashoff, R. H.; Nortje, R.; Bustamante, J.; Abel, L.; Casanova, J.; Boisson-Dupuis, S.; Esser, M.; and Kinnear, C. J. Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient. Journal of Clinical Immunology. May 2018.
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McGregor, N. W.; Dimatelis, J. J.; Van Zyl, P. J.; Hemmings, S. M. J.; Kinnear, C.; Russell, V. A.; Stein, D. J.; and Lochner, C. A translational approach to the genetics of anxiety disorders. Behavioural Brain Research, 341: 91–97. April 2018.
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  2017 (14)
De Wet, J.; Jordaan, H. F.; Kannenberg, S. M.; Tod, B.; Glanzmann, B.; and Visser, W. I. Pyoderma gangrenosum, acne, and suppurative hidradenitis syndrome in end-stage renal disease successfully treated with adalimumab. Dermatology Online Journal, 23(12). December 2017.
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Kannan, M.; Bayam, E.; Wagner, C.; Rinaldi, B.; Kretz, P. F.; Tilly, P.; Roos, M.; McGillewie, L.; Bär, S.; Minocha, S.; Chevalier, C.; Po, C.; Sanger Mouse Genetics Project; Chelly, J.; Mandel, J.; Borgatti, R.; Piton, A.; Kinnear, C.; Loos, B.; Adams, D. J.; Hérault, Y.; Collins, S. C.; Friant, S.; Godin, J. D.; and Yalcin, B. WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy. Proceedings of the National Academy of Sciences of the United States of America, 114(44): E9308–E9317. October 2017.
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Kinnear, C.; Hoal, E. G.; Schurz, H.; van Helden, P. D.; and Möller, M. The role of human host genetics in tuberculosis resistance. Expert Review of Respiratory Medicine, 11(9): 721–737. September 2017.
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Hoal, E. G.; Dippenaar, A.; Kinnear, C.; van Helden, P. D.; and Möller, M. The arms race between man and Mycobacterium tuberculosis: Time to regroup. Infection, Genetics and Evolution: Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases. August 2017.
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Jabot-Hanin, F.; Cobat, A.; Feinberg, J.; Orlova, M.; Niay, J.; Deswarte, C.; Poirier, C.; Theodorou, I.; Bustamante, J.; Boisson-Dupuis, S.; Casanova, J.; Alcaïs, A.; Hoal, E. G.; Delacourt, C.; Schurr, E.; and Abel, L. An eQTL variant of ZXDC is associated with IFN-γ production following Mycobacterium tuberculosis antigen-specific stimulation. Scientific Reports, 7(1): 12800. October 2017.
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Martin, A. R.; Lin, M.; Granka, J. M.; Myrick, J. W.; Liu, X.; Sockell, A.; Atkinson, E. G.; Werely, C. J.; Möller, M.; Sandhu, M. S.; Kingsley, D. M.; Hoal, E. G.; Liu, X.; Daly, M. J.; Feldman, M. W.; Gignoux, C. R.; Bustamante, C. D.; and Henn, B. M. An Unexpectedly Complex Architecture for Skin Pigmentation in Africans. Cell, 171(6): 1340–1353.e14. November 2017.
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Schlechter, N.; Glanzmann, B.; Hoal, E. G.; Schoeman, M.; Petersen, B.; Franke, A.; Lau, Y.; Urban, M.; van Helden, P. D.; Esser, M. M.; Möller, M.; and Kinnear, C. Exome Sequencing Identifies a NovelMAP3K14Mutation in Recessive Atypical Combined Immunodeficiency. Frontiers in Immunology, 8: 1624. 2017.
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Uren, C.; Möller, M.; van Helden, P. D.; Henn, B. M.; and Hoal, E. G. Population structure and infectious disease risk in southern Africa. Molecular genetics and genomics: MGG, 292(3): 499–509. June 2017. 00000
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Kinnear, C.; Glanzmann, B.; Banda, E.; Schlechter, N.; Durrheim, G.; Neethling, A.; Nel, E.; Schoeman, M.; Johnson, G.; van Helden, P. D.; Hoal, E. G.; Esser, M.; Urban, M.; and Möller, M. Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa. BMC medical genetics, 18(1): 26. March 2017. 00000
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Uren, C.; Henn, B. M.; Franke, A.; Wittig, M.; van Helden, P. D.; Hoal, E. G.; and Möller, M. A post-GWAS analysis of predicted regulatory variants and tuberculosis susceptibility. PloS One, 12(4): e0174738. 2017. 00000
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le Roex, N.; Jolles, A.; Beechler, B.; van Helden, P.; and Hoal, E. Toll-like receptor (TLR) diversity influences mycobacterial growth in African buffalo. Tuberculosis (Edinburgh, Scotland), 104: 87–94. May 2017. 00000
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Shah, J. A.; Musvosvi, M.; Shey, M.; Horne, D. J.; Wells, R. D.; Peterson, G. J.; Cox, J. S.; Daya, M.; Hoal, E. G.; Lin, L.; Gottardo, R.; Hanekom, W. A.; Scriba, T. J.; Hatherill, M.; and Hawn, T. R. A Functional TOLLIP Variant is Associated with BCG-Specific Immune Responses and Tuberculosis. American Journal of Respiratory and Critical Care Medicine. May 2017. 00000
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van der Merwe, C.; van Dyk, H. C.; Engelbrecht, L.; van der Westhuizen, F. H.; Kinnear, C.; Loos, B.; and Bardien, S. Curcumin Rescues a PINK1 Knock Down SH-SY5Y Cellular Model of Parkinson's Disease from Mitochondrial Dysfunction and Cell Death. Molecular Neurobiology, 54(4): 2752–2762. May 2017. 00006
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Lumkwana, D.; du Toit, A.; Kinnear, C.; and Loos, B. Autophagic flux control in neurodegeneration: Progress and precision targeting-Where do we stand?. Progress in Neurobiology. April 2017. 00001
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  2016 (8)
Lombard, Z.; Baine, F.; Krause, A.; Lochan, A.; Macualay, S.; Spencer, C.; Aldous, C.; De Vries, J.; Fieggen, K.; Henderson, B.; Hoal, E.; Kinnear, C.; Kinsley, N.; September, A.; Urban, M.; Soodyall, H.; Pepper, M.; and Ramsay, M. Implications of direct-to-consumer whole-exome sequencing in South Africa. South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde, 106(2): 139–140. January 2016. 00001
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Mouton, J. M.; van der Merwe, L.; Goosen, A.; Revera, M.; Brink, P. A.; Moolman-Smook, J. C.; and Kinnear, C. MYBPH acts as modifier of cardiac hypertrophy in hypertrophic cardiomyopathy (HCM) patients. Human Genetics, 135(5): 477–483. May 2016. 00001
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Haylett, W.; Swart, C.; van der Westhuizen, F.; van Dyk, H.; van der Merwe, L.; van der Merwe, C.; Loos, B.; Carr, J.; Kinnear, C.; and Bardien, S. Altered Mitochondrial Respiration and Other Features of Mitochondrial Function in Parkin-Mutant Fibroblasts from Parkinson's Disease Patients. Parkinson's Disease, 2016: 1819209. 2016. 00002
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Glanzmann, B.; Herbst, H.; Kinnear, C. J.; Möller, M.; Gamieldien, J.; and Bardien, S. A new tool for prioritization of sequence variants from whole exome sequencing data. Source Code for Biology and Medicine, 11: 10. 2016. 00000
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Jabot-Hanin, F.; Cobat, A.; Feinberg, J.; Grange, G.; Remus, N.; Poirier, C.; Boland-Auge, A.; Besse, C.; Bustamante, J.; Boisson-Dupuis, S.; Casanova, J.; Schurr, E.; Alcaïs, A.; Hoal, E. G.; Delacourt, C.; and Abel, L. Major Loci on Chromosomes 8q and 3q Control Interferon γ Production Triggered by Bacillus Calmette-Guerin and 6-kDa Early Secretory Antigen Target, Respectively, in Various Populations. The Journal of Infectious Diseases, 213(7): 1173–1179. April 2016. 00002
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Bowker, N.; Salie, M.; Schurz, H.; van Helden, P. D.; Kinnear, C. J.; Hoal, E. G.; and Möller, M. Polymorphisms in the Pattern Recognition Receptor Mincle Gene (CLEC4E) and Association with Tuberculosis. Lung, 194(5): 763–767. October 2016. 00001
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Uren, C.; Kim, M.; Martin, A. R.; Bobo, D.; Gignoux, C. R.; van Helden, P. D.; Möller, M.; Hoal, E. G.; and Henn, B. M. Fine-Scale Human Population Structure in Southern Africa Reflects Ecogeographic Boundaries. Genetics, 204(1): 303–314. September 2016. 00003
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Glanzmann, B.; Möller, M.; le Roex, N.; Tromp, G.; Hoal, E. G.; and van Helden, P. D. The complete genome sequence of the African buffalo (Syncerus caffer). BMC genomics, 17(1): 1001. December 2016. 00000
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  2015 (9)
Uys, P.; Brand, H.; Warren, R.; van der Spuy, G.; Hoal, E. G.; and van Helden, P. D. The Risk of Tuberculosis Reinfection Soon after Cure of a First Disease Episode Is Extremely High in a Hyperendemic Community. PloS One, 10(12): e0144487. 2015. 00001
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Schurz, H.; Daya, M.; Möller, M.; Hoal, E. G.; and Salie, M. TLR1, 2, 4, 6 and 9 Variants Associated with Tuberculosis Susceptibility: A Systematic Review and Meta-Analysis. PloS One, 10(10): e0139711. 2015. 00000
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Salie, M.; Daya, M.; Möller, M.; and Hoal, E. G. Activating KIRs alter susceptibility to pulmonary tuberculosis in a South African population. Tuberculosis (Edinburgh, Scotland). October 2015. 00000
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Mouton, J.; Loos, B.; Moolman-Smook, J. C.; and Kinnear, C. J. Ascribing novel functions to the sarcomeric protein, myosin binding protein H (MyBPH) in cardiac sarcomere contraction. Experimental Cell Research, 331(2): 338–351. February 2015. 00000
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Mouton, J. M.; Pellizzon, A. S.; Goosen, A.; Kinnear, C. J.; Herbst, P. G.; Brink, P. A.; and Moolman-Smook, J. C. Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de novo, in South African patients with restrictive cardiomyopathy and focal ventricular hypertrophy. Cardiovascular Journal of Africa, 26(2): 63–69. April 2015. 00000
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Salie, M.; Daya, M.; Lucas, L. A.; Warren, R. M.; van der Spuy, G. D.; van Helden, P. D.; Hoal, E. G.; and Möller, M. Association of toll-like receptors with susceptibility to tuberculosis suggests sex-specific effects of TLR8 polymorphisms. Infection, Genetics and Evolution: Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 34: 221–229. August 2015.
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Daya, M.; van der Merwe, L.; van Helden, P. D.; Möller, M.; and Hoal, E. G. Investigating the Role of Gene-Gene Interactions in TB Susceptibility. PloS One, 10(4): e0123970. 2015. 00000
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le Roex, N.; Cooper, D.; van Helden, P. D.; Hoal, E. G.; and Jolles, A. E. Disease Control in Wildlife: Evaluating a Test and Cull Programme for Bovine Tuberculosis in African Buffalo. Transboundary and Emerging Diseases. January 2015. 00000
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le Roex, N.; Berrington, C. M.; Hoal, E. G.; and van Helden, P. D. Selective breeding: The future of TB management in African buffalo?. Acta Tropica, 149: 38–44. May 2015. 00000
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  2014 (5)
Daya, M.; van der Merwe, L.; Gignoux, C. R.; van Helden, P. D.; Möller, M.; and Hoal, E. G. Using multi-way admixture mapping to elucidate TB susceptibility in the South African Coloured population. BMC genomics, 15: 1021. 2014. 00000
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Salie, M.; van der Merwe, L.; Möller, M.; Daya, M.; van der Spuy, G. D.; van Helden, P. D.; Martin, M. P.; Gao, X.; Warren, R. M.; Carrington, M.; and Hoal, E. G. Associations between human leukocyte antigen class I variants and the Mycobacterium tuberculosis subtypes causing disease. The Journal of Infectious Diseases, 209(2): 216–223. January 2014. 00006
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Chimusa, E. R.; Zaitlen, N.; Daya, M.; Möller, M.; van Helden, P. D.; Mulder, N. J.; Price, A. L.; and Hoal, E. G. Genome-wide association study of ancestry-specific TB risk in the South African Coloured population. Human Molecular Genetics, 23(3): 796–809. February 2014. 00020
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Kidd, J. M.; Sharpton, T. J.; Bobo, D.; Norman, P. J.; Martin, A. R.; Carpenter, M. L.; Sikora, M.; Gignoux, C. R.; Nemat-Gorgani, N.; Adams, A.; Guadalupe, M.; Guo, X.; Feng, Q.; Li, Y.; Liu, X.; Parham, P.; Hoal, E. G.; Feldman, M. W.; Pollard, K. S.; Wall, J. D.; Bustamante, C. D.; and Henn, B. M. Exome capture from saliva produces high quality genomic and metagenomic data. BMC genomics, 15: 262. 2014. 00004
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Daya, M.; van der Merwe, L.; van Helden, P. D.; Möller, M.; and Hoal, E. G. The role of ancestry in TB susceptibility of an admixed South African population. Tuberculosis (Edinburgh, Scotland), 94(4): 413–420. July 2014. 00002
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  2013 (8)
Daya, M.; van der Merwe, L.; Galal, U.; Möller, M.; Salie, M.; Chimusa, E. R.; Galanter, J. M.; van Helden, P. D.; Henn, B. M.; Gignoux, C. R.; and Hoal, E. A panel of ancestry informative markers for the complex five-way admixed South African coloured population. PloS One, 8(12): e82224. 2013.
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van Helden, P. D.; and Hoal, E. G. A new TB vaccine: fact or fiction?. Comparative Immunology, Microbiology and Infectious Diseases, 36(3): 287–294. May 2013. 00004
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Hemmings, S. M. J.; Martin, L. I.; Klopper, M.; van der Merwe, L.; Aitken, L.; de Wit, E.; Black, G. F.; Hoal, E. G.; Walzl, G.; and Seedat, S. BDNF Val66Met and DRD2 Taq1A polymorphisms interact to influence PTSD symptom severity: a preliminary investigation in a South African population. Progress in Neuro-Psychopharmacology & Biological Psychiatry, 40: 273–280. January 2013. 00012
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van Helden, P. D.; van Helden, L. S.; and Hoal, E. G. One world, one health. Humans, animals and the environment are inextricably linked–a fact that needs to be remembered and exploited in our modern approach to health. EMBO reports, 14(6): 497–501. June 2013. 00000
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le Roex, N.; Koets, A. P.; van Helden, P. D.; and Hoal, E. G. Gene polymorphisms in African buffalo associated with susceptibility to bovine tuberculosis infection. PloS One, 8(5): e64494. 2013. 00004
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le Roex, N.; van Helden, P. D.; Koets, A. P.; and Hoal, E. G. Bovine TB in livestock and wildlife: what's in the genes?. Physiological Genomics, 45(15): 631–637. August 2013. 00007
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Cobat, A.; Hoal, E. G.; Gallant, C. J.; Simkin, L.; Black, G. F.; Stanley, K.; Jaïs, J.; Yu, T.; Boland-Auge, A.; Grange, G.; Delacourt, C.; van Helden, P.; Casanova, J.; Abel, L.; Alcaïs, A.; and Schurr, E. Identification of a major locus, TNF1, that controls BCG-triggered tumor necrosis factor production by leukocytes in an area hyperendemic for tuberculosis. Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America, 57(7): 963–970. October 2013. 00006
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Chimusa, E. R.; Daya, M.; Möller, M.; Ramesar, R.; Henn, B. M.; van Helden, P. D.; Mulder, N. J.; and Hoal, E. G. Determining ancestry proportions in complex admixture scenarios in South Africa using a novel proxy ancestry selection method. PloS One, 8(9): e73971. 2013. 00005
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  2012 (3)
Wright, G. E. B.; Niehaus, D. J. H.; van der Merwe, L.; Koen, L.; Korkie, L. J.; Kinnear, C. J.; Drögemöller, B. I.; and Warnich, L. Association of MB-COMT polymorphisms with schizophrenia-susceptibility and symptom severity in an African cohort. Progress in Neuro-Psychopharmacology & Biological Psychiatry, 39(1): 163–169. October 2012. 00006
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Müller, A.; Möller, M.; Adams, L. A.; Warren, R. M.; Hoal, E. G.; and van Helden, P. D. Comparative analysis of a putative tuberculosis-susceptibility gene, MC3R, and pseudogene sequences in cattle, African buffalo, hyena, rhinoceros and other African bovids and ruminants. Cytogenetic and Genome Research, 136(2): 117–122. 2012. 00001
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le Roex, N.; Noyes, H.; Brass, A.; Bradley, D. G.; Kemp, S. J.; Kay, S.; van Helden, P. D.; and Hoal, E. G. Novel SNP Discovery in African Buffalo, Syncerus caffer, using high-throughput Sequencing. PloS One, 7(11): e48792. 2012. 00008
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  2011 (5)
Boardman, L.; van der Merwe, L.; Lochner, C.; Kinnear, C. J.; Seedat, S.; Stein, D. J.; Moolman-Smook, J. C.; and Hemmings, S. M. J. Investigating SAPAP3 variants in the etiology of obsessive-compulsive disorder and trichotillomania in the South African white population. Comprehensive Psychiatry, 52(2): 181–187. April 2011. 00037
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Uys, G. M.; Ramburan, A.; Loos, B.; Kinnear, C. J.; Korkie, L. J.; Mouton, J.; Riedemann, J.; and Moolman-Smook, J. C. Myomegalin is a novel A-kinase anchoring protein involved in the phosphorylation of cardiac myosin binding protein C. BMC cell biology, 12: 18. 2011. 00023
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de Wit, E.; van der Merwe, L.; van Helden, P. D.; and Hoal, E. G. Gene-gene interaction between tuberculosis candidate genes in a South African population. Mammalian Genome: Official Journal of the International Mammalian Genome Society, 22(1-2): 100–110. February 2011. 00030
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Adams, L. A.; Möller, M.; Nebel, A.; Schreiber, S.; van der Merwe, L.; van Helden, P. D.; and Hoal, E. G. Polymorphisms in MC3R promoter and CTSZ 3'UTR are associated with tuberculosis susceptibility. European journal of human genetics: EJHG, 19(6): 676–681. June 2011. 00013
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Carugati, M.; Zanini, F.; Schiroli, C.; Gori, A.; Franzetti, F.; Hanekom, M.; van der Spuy, G. D.; Gey van Pittius, N. C.; McEvoy, C. R. E.; Ndabambi, S. L.; Victor, T. C.; Hoal, E. G.; van Helden, P. D.; and Warren, R. M. Mycobacterial interspersed repetitive-unit-variable-number tandem-repeat analysis and Beijing/W family of Mycobacterium tuberculosis. Journal of Clinical Microbiology, 49(7): 2780; author reply 2781. July 2011. 00000
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  2010 (9)
Möller, M.; de Wit, E.; and Hoal, E. G. Past, present and future directions in human genetic susceptibility to tuberculosis. FEMS immunology and medical microbiology, 58(1): 3–26. February 2010. 00090
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Cobat, A.; Gallant, C. J.; Simkin, L.; Black, G. F.; Stanley, K.; Hughes, J.; Doherty, T. M.; Hanekom, W. A.; Eley, B.; Beyers, N.; Jaïs, J.; van Helden, P.; Abel, L.; Hoal, E. G.; Alcaïs, A.; and Schurr, E. High heritability of antimycobacterial immunity in an area of hyperendemicity for tuberculosis disease. The Journal of Infectious Diseases, 201(1): 15–19. January 2010. 00030
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Möller, M.; Flachsbart, F.; Till, A.; Thye, T.; Horstmann, R. D.; Meyer, C. G.; Osei, I.; van Helden, P. D.; Hoal, E. G.; Schreiber, S.; Nebel, A.; and Franke, A. A functional haplotype in the 3'untranslated region of TNFRSF1B is associated with tuberculosis in two African populations. American Journal of Respiratory and Critical Care Medicine, 181(4): 388–393. February 2010. 00022
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Gallant, C. J.; Cobat, A.; Simkin, L.; Black, G. F.; Stanley, K.; Hughes, J.; Doherty, T. M.; Hanekom, W. A.; Eley, B.; Beyers, N.; Jaïs, J.; van Helden, P.; Abel, L.; Alcaïs, A.; Hoal, E. G.; and Schurr, E. Tuberculin skin test and in vitro assays provide complementary measures of antimycobacterial immunity in children and adolescents. Chest, 137(5): 1071–1077. May 2010. 00021
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Möller, M.; and Hoal, E. G. Current findings, challenges and novel approaches in human genetic susceptibility to tuberculosis. Tuberculosis (Edinburgh, Scotland), 90(2): 71–83. March 2010. 00130
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Quintana-Murci, L.; Harmant, C.; Quach, H.; Balanovsky, O.; Zaporozhchenko, V.; Bormans, C.; van Helden, P. D.; Hoal, E. G.; and Behar, D. M. Strong maternal Khoisan contribution to the South African coloured population: a case of gender-biased admixture. American Journal of Human Genetics, 86(4): 611–620. April 2010. 00056
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de Wit, E.; Delport, W.; Rugamika, C. E.; Meintjes, A.; Möller, M.; van Helden, P. D.; Seoighe, C.; and Hoal, E. G. Genome-wide analysis of the structure of the South African Coloured Population in the Western Cape. Human Genetics, 128(2): 145–153. August 2010. 00061
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Möller, M.; Nebel, A.; van Helden, P. D.; Schreiber, S.; and Hoal, E. G. Analysis of eight genes modulating interferon gamma and human genetic susceptibility to tuberculosis: a case-control association study. BMC infectious diseases, 10: 154. 2010. 00022
doi   link   bibtex   abstract  
Gallant, C. J.; Cobat, A.; Simkin, L.; Black, G. F.; Stanley, K.; Hughes, J.; Doherty, T. M.; Hanekom, W. A.; Eley, B.; Beyers, N.; Jaïs, J.; van Helden, P.; Abel, L.; Alcaïs, A.; Hoal, E. G.; and Schurr, E. Impact of age and sex on mycobacterial immunity in an area of high tuberculosis incidence. The International Journal of Tuberculosis and Lung Disease: The Official Journal of the International Union Against Tuberculosis and Lung Disease, 14(8): 952–959. August 2010. 00012
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  2009 (2)
Möller, M.; Nebel, A.; Valentonyte, R.; van Helden, P. D.; Schreiber, S.; and Hoal, E. G. Investigation of chromosome 17 candidate genes in susceptibility to TB in a South African population. Tuberculosis (Edinburgh, Scotland), 89(2): 189–194. March 2009. 00041
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Cobat, A.; Gallant, C. J.; Simkin, L.; Black, G. F.; Stanley, K.; Hughes, J.; Doherty, T. M.; Hanekom, W. A.; Eley, B.; Jaïs, J.; Boland-Auge, A.; van Helden, P.; Casanova, J.; Abel, L.; Hoal, E. G.; Schurr, E.; and Alcaïs, A. Two loci control tuberculin skin test reactivity in an area hyperendemic for tuberculosis. The Journal of Experimental Medicine, 206(12): 2583–2591. November 2009. 00063
doi   link   bibtex   abstract  
  2008 (3)
Hemmings, S. M. J.; Kinnear, C. J.; Van der Merwe, L.; Lochner, C.; Corfield, V. A.; Moolman-Smook, J. C.; and Stein, D. J. Investigating the role of the brain-derived neurotrophic factor (BDNF) val66met variant in obsessive-compulsive disorder (OCD). The World Journal of Biological Psychiatry: The Official Journal of the World Federation of Societies of Biological Psychiatry, 9(2): 126–134. 2008. 00061
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Lochner, C.; Hemmings, S. M. J.; Kinnear, C. J.; Nel, D.; Hemmings, S. M. J.; Seedat, S.; Moolman-Smook, J. C.; and Stein, D. J. Cluster analysis of obsessive-compulsive symptomatology: identifying obsessive-compulsive disorder subtypes. The Israel Journal of Psychiatry and Related Sciences, 45(3): 164–176. 2008. 00025
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Cooke, G. S.; Campbell, S. J.; Bennett, S.; Lienhardt, C.; McAdam, K. P. W. J.; Sirugo, G.; Sow, O.; Gustafson, P.; Mwangulu, F.; van Helden, P.; Fine, P.; Hoal, E. G.; and Hill, A. V. S. Mapping of a novel susceptibility locus suggests a role for MC3R and CTSZ in human tuberculosis. American Journal of Respiratory and Critical Care Medicine, 178(2): 203–207. July 2008. 00050
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  2007 (6)
Möller, M.; Nebel, A.; Kwiatkowski, R.; van Helden, P. D.; Hoal, E. G.; and Schreiber, S. Host susceptibility to tuberculosis: CARD15 polymorphisms in a South African population. Molecular and Cellular Probes, 21(2): 148–151. April 2007. 00022
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Babb, C.; Keet, E. H.; van Helden, P. D.; and Hoal, E. G. SP110 polymorphisms are not associated with pulmonary tuberculosis in a South African population. Human Genetics, 121(3-4): 521–522. May 2007. 00037
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Barreiro, L. B.; Neyrolles, O.; Babb, C. L.; van Helden, P. D.; Gicquel, B.; Hoal, E. G.; and Quintana-Murci, L. Length variation of DC-SIGN and L-SIGN neck-region has no impact on tuberculosis susceptibility. Human Immunology, 68(2): 106–112. February 2007. 00025
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Möller, M.; Kwiatkowski, R.; Nebel, A.; van Helden, P. D.; Hoal, E. G.; and Schreiber, S. Allelic variation in BTNL2 and susceptibility to tuberculosis in a South African population. Microbes and Infection / Institut Pasteur, 9(4): 522–528. April 2007. 00015
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Babb, C.; van der Merwe, L.; Beyers, N.; Pheiffer, C.; Walzl, G.; Duncan, K.; van Helden, P.; and Hoal, E. G. Vitamin D receptor gene polymorphisms and sputum conversion time in pulmonary tuberculosis patients. Tuberculosis (Edinburgh, Scotland), 87(4): 295–302. July 2007. 00076
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Hanekom, M.; van der Spuy, G. D.; Gey van Pittius, N. C.; McEvoy, C. R. E.; Ndabambi, S. L.; Victor, T. C.; Hoal, E. G.; van Helden, P. D.; and Warren, R. M. Evidence that the spread of Mycobacterium tuberculosis strains with the Beijing genotype is human population dependent. Journal of Clinical Microbiology, 45(7): 2263–2266. July 2007. 00057
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  2006 (5)
Hemmings, S. M. J.; Kinnear, C. J.; Lochner, C.; Seedat, S.; Corfield, V. A.; Moolman-Smook, J. C.; and Stein, D. J. Genetic correlates in trichotillomania–A case-control association study in the South African Caucasian population. The Israel Journal of Psychiatry and Related Sciences, 43(2): 93–101. 2006. 00040
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Barreiro, L. B.; Neyrolles, O.; Babb, C. L.; Tailleux, L.; Quach, H.; McElreavey, K.; Helden, P. D. v.; Hoal, E. G.; Gicquel, B.; and Quintana-Murci, L. Promoter variation in the DC-SIGN-encoding gene CD209 is associated with tuberculosis. PLoS medicine, 3(2): e20. February 2006. 00192
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Lombard, Z.; Brune, A. E.; Hoal, E. G.; Babb, C.; Van Helden, P. D.; Epplen, J. T.; and Bornman, L. HLA class II disease associations in southern Africa. Tissue Antigens, 67(2): 97–110. February 2006. 00031
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Warren, R. M.; Gey van Pittius, N. C.; Barnard, M.; Hesseling, A.; Engelke, E.; de Kock, M.; Gutierrez, M. C.; Chege, G. K.; Victor, T. C.; Hoal, E. G.; and van Helden, P. D. Differentiation of Mycobacterium tuberculosis complex by PCR amplification of genomic regions of difference. The International Journal of Tuberculosis and Lung Disease: The Official Journal of the International Union Against Tuberculosis and Lung Disease, 10(7): 818–822. July 2006. 00118
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van Helden, P. D.; Donald, P. R.; Victor, T. C.; Schaaf, H. S.; Hoal, E. G.; Walzl, G.; and Warren, R. M. Antimicrobial resistance in tuberculosis: an international perspective. Expert Review of Anti-Infective Therapy, 4(5): 759–766. October 2006. 00029
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  2005 (2)
Lochner, C.; Hemmings, S. M. J.; Kinnear, C. J.; Niehaus, D. J. H.; Nel, D. G.; Corfield, V. A.; Moolman-Smook, J. C.; Seedat, S.; and Stein, D. J. Cluster analysis of obsessive-compulsive spectrum disorders in patients with obsessive-compulsive disorder: clinical and genetic correlates. Comprehensive Psychiatry, 46(1): 14–19. February 2005. 00101
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Lochner, C.; Kinnear, C. J.; Hemmings, S. M. J.; Seller, C.; Niehaus, D. J. H.; Knowles, J. A.; Daniels, W.; Moolman-Smook, J. C.; Seedat, S.; and Stein, D. J. Hoarding in obsessive-compulsive disorder: clinical and genetic correlates. The Journal of Clinical Psychiatry, 66(9): 1155–1160. September 2005. 00108
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  2004 (7)
Lochner, C.; Hemmings, S. M. J.; Kinnear, C. J.; Moolman-Smook, J. C.; Corfield, V. A.; Knowles, J. A.; Niehaus, D. J. H.; and Stein, D. J. Gender in obsessive-compulsive disorder: clinical and genetic findings. European Neuropsychopharmacology: The Journal of the European College of Neuropsychopharmacology, 14(2): 105–113. March 2004. 00137
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Koen, L.; Kinnear, C. J.; Corfield, V. A.; Emsley, R. A.; Jordaan, E.; Keyter, N.; Moolman-Smook, J. C.; Stein, D. J.; and Niehaus, D. J. H. Violence in male patients with schizophrenia: risk markers in a South African population. The Australian and New Zealand Journal of Psychiatry, 38(4): 254–259. April 2004. 00040
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Lochner, C.; Seedat, S.; Hemmings, S. M. J.; Kinnear, C. J.; Corfield, V. A.; Niehaus, D. J. H.; Moolman-Smook, J. C.; and Stein, D. J. Dissociative experiences in obsessive-compulsive disorder and trichotillomania: clinical and genetic findings. Comprehensive Psychiatry, 45(5): 384–391. October 2004. 00074
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Lochner, C.; Hemmings, S. M. J.; Kinnear, C. J.; Moolman-Smook, J. C.; Corfield, V. A.; Knowles, J. A.; Niehaus, D. J. H.; and Stein, D. J. Corrigendum to "gender in obsessive-compulsive disorder: clinical and genetic findings" [Eur. Neuropsychopharmacol. 14 (2004) 105-113]. European Neuropsychopharmacology: The Journal of the European College of Neuropsychopharmacology, 14(5): 437–445. October 2004. 00000
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Hemmings, S. M. J.; Kinnear, C. J.; Lochner, C.; Niehaus, D. J. H.; Knowles, J. A.; Moolman-Smook, J. C.; Corfield, V. A.; and Stein, D. J. Early- versus late-onset obsessive-compulsive disorder: investigating genetic and clinical correlates. Psychiatry Research, 128(2): 175–182. September 2004. 00110
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Wiid, I.; Seaman, T.; Hoal, E. G.; Benade, A. J. S.; and Van Helden, P. D. Total antioxidant levels are low during active TB and rise with anti-tuberculosis therapy. IUBMB life, 56(2): 101–106. February 2004. 00034
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Hoal, E. G.; Lewis, L. A.; Jamieson, S. E.; Tanzer, F.; Rossouw, M.; Victor, T.; Hillerman, R.; Beyers, N.; Blackwell, J. M.; and Van Helden, P. D. SLC11A1 (NRAMP1) but not SLC11A2 (NRAMP2) polymorphisms are associated with susceptibility to tuberculosis in a high-incidence community in South Africa. The International Journal of Tuberculosis and Lung Disease: The Official Journal of the International Union Against Tuberculosis and Lung Disease, 8(12): 1464–1471. December 2004. 00070
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  2003 (4)
Hemmings, S. M. J.; Kinnear, C. J.; Niehaus, D. J. H.; Moolman-Smook, J. C.; Lochner, C.; Knowles, J. A.; Corfield, V. A.; and Stein, D. J. Investigating the role of dopaminergic and serotonergic candidate genes in obsessive-compulsive disorder. European Neuropsychopharmacology: The Journal of the European College of Neuropsychopharmacology, 13(2): 93–98. March 2003. 00000
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Adams, C. H.; Werely, C. J.; Victor, T. C.; Hoal, E. G.; Rossouw, G.; and van Helden, P. D. Allele frequencies for glutathione S-transferase and N-acetyltransferase 2 differ in African population groups and may be associated with oesophageal cancer or tuberculosis incidence. Clinical chemistry and laboratory medicine: CCLM / FESCC, 41(4): 600–605. April 2003. 00039
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Rossouw, M.; Nel, H. J.; Cooke, G. S.; van Helden, P. D.; and Hoal, E. G. Association between tuberculosis and a polymorphic NFkappaB binding site in the interferon gamma gene. Lancet (London, England), 361(9372): 1871–1872. May 2003. 00000
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Barnard, D.; Lehmann, K.; Hoal, E. G.; van Helden, P. D.; and Victor, T. C. The spectrum of mutations in TP53 in laryngeal cancer patients from a high-incidence population shows similarities to many of the known mutational hotspots. Cancer Genetics and Cytogenetics, 145(2): 126–132. September 2003. 00006
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  2002 (3)
Wiid, I.; Grundlingh, R.; Bourn, W.; Bradley, G.; Harington, A.; Hoal-van Helden, E. G.; and van Helden, P. O(6)-alkylguanine-DNA alkyltransferase DNA repair in mycobacteria: pathogenic and non-pathogenic species differ. Tuberculosis (Edinburgh, Scotland), 82(2-3): 45–53. 2002.
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Hoal, E. G. Human genetic susceptibility to tuberculosis and other mycobacterial diseases. IUBMB life, 53(4-5): 225–229. May 2002. 00000
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Rossouw, M.; Warren, R.; and Hoal, E. G. Accurate microsatellite typing and inter-study comparison: pitfalls and solutions using interferon-gamma (IFNG) and natural resistance-associated macrophage protein 2 (NRAMP2) genes as examples. Clinical chemistry and laboratory medicine: CCLM / FESCC, 40(9): 926–929. September 2002. 00000
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