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Publications

List of recent Publications

2023
  1. Graham, S. E., Clarke, S. L., Wu, K. H., Kanoni, S., Zajac, G. J. M., Ramdas, S., Surakka, I., Ntalla, I., Vedantam, S., Winkler, T. W., Locke, A. E., Marouli, E., Hwang, M. Y., Han, S., Narita, A., Choudhury, A., Bentley, A. R., Ekoru, K., Verma, A., Trivedi, B., … Willer, C. J. (2023). Author Correction: The power of genetic diversity in genome-wide association studies of lipids. Nature, 618(7965), E19–E20. https://doi.org/10.1038/s41586-023-06194-2
  2. Sleiman, P. M., Qu, H. Q., Connolly, J. J., Mentch, F., Pereira, A., Lotufo, P. A., Tollman, S., Choudhury, A., Ramsay, M., Kato, N., Ozaki, K., Mitsumori, R., Jeon, J. P., Hong, C. H., Son, S. J., Roh, H. W., Lee, D. G., Mukadam, N., Foote, I. F., Marshall, C. R., … Davos Alzheimer Collaborative and IHCC consortium (2023). Trans-ethnic genomic informed risk assessment for Alzheimer's disease: An International Hundred K+ Cohorts Consortium study. Alzheimer's & dementia : the journal of the Alzheimer's Association,1002/alz.13378. Advance online publication. https://doi.org/10.1002/alz.13378
  3. Sengupta, D., Botha, G., Meintjes, A., Mbiyavanga, M., AWI-Gen Study, H3Africa Consortium, Hazelhurst, S., Mulder, N., Ramsay, M., & Choudhury, A. (2023). Performance and accuracy evaluation of reference panels for genotype imputation in sub-Saharan African populations. Cell genomics, 3(6), 100332. https://doi.org/10.1016/j.xgen.2023.100332
  4. Soo, C. C., Brandenburg, J. T., Nebel, A., Tollman, S., Berkman, L., Ramsay, M., & Choudhury, A. (2023). Genome-wide association study of population-standardised cognitive performance phenotypes in a rural South African community. Communications biology, 6(1), 328. https://doi.org/10.1038/s42003-023-04636-1
  5. Sitabule, B. R., Othman, H., Choudhury, A., Twesigomwe, D., & Hanchard, N. A. (2023). Promoting Pharmacogenomics in Africa: Perspectives From Variation in G6PD and Other Pharmacogenes. Clinical pharmacology and therapeutics, 113(3), 476–479. https://doi.org/10.1002/cpt.2816
  6. Chen, W. C., Brandenburg, J. T., Choudhury, A., Hayat, M., Sengupta, D., Swiel, Y., Babb de Villiers, C., Ferndale, L., Aldous, C., Soo, C., Lee, S., Curtis, C., Newton, R., Waterboer, T., Sitas, F., Bradshaw, D., Abnet, C. C., Ramsay, M., Parker, M. I., Singh, E., … Mathew, C. G. (2023). Genome-wide association study of esophageal squamous cell cancer identifies shared and distinct risk variants in African and Chinese populations. American journal of human genetics, 110(10), 1690–1703. https://doi.org/10.1016/j.ajhg.2023.08.007
  7. Chiwambutsa, S. M., Ayeni, O., Kapungu, N., Kanji, C., Thelingwani, R., Chen, W. C., Mokone, D. H., O'Neil, D. S., Neugut, A. I., Jacobson, J. S., Ruff, P., Cubasch, H., Joffe, M., & Masimirembwa, C. (2023). Effects of Genetic Polymorphisms of Drug Metabolizing Enzymes and co-Medications on Tamoxifen Metabolism in Black South African Women with Breast Cancer. Clinical pharmacology and therapeutics, 114(1), 127–136. https://doi.org/10.1002/cpt.2904
  8. Twesigomwe, D., Drögemöller, B. I., Wright, G. E. B., Adebamowo, C., Agongo, G., Boua, P. R., Matshaba, M., Paximadis, , Ramsay, M., Simo, G., Simuunza, M. C., Tiemessen, C. T., Lombard, Z., & Hazelhurst, S. (2023). Characterization of CYP2D6 Pharmacogenetic Variation in Sub-Saharan African Populations. Clinical pharmacology and therapeutics, 113(3), 643–659. https://doi.org/10.1002/cpt.2749
  9. Singini, M. G., Singh, E., Bradshaw, D., Ramaliba, T., Chen, W. C., Motlhale, M., Kamiza, A. B., Babb de Villiers, C., Muchengeti, M., Mathew, C. G., Newton, R., Bender, N., Waterboer, T., & Sitas, F. (2023). Usefulness of high-risk HPV early oncoprotein (E6 and E7) serological markers in the detection of cervical cancer: A systematic review and meta-analysis. Journal of medical virology, 95(1), e27900. https://doi.org/10.1002/jmv.27900
  10. Sengayi-Muchengeti, M., Singh, E., Chen, W. C., Bradshaw, D., de Villiers, C. B., Newton, R., Waterboer, T., Mathew, C. G., & Sitas, F. (2023). Thirteen cancers associated with HIV infection in a Black South African cancer patient population (1995-2016). International journal of cancer, 152(2), 183–194. https://doi.org/10.1002/ijc.34236
  11. Dix-Peek, T., Dickens, C., Augustine, T. N., Phakathi, B. P., Van Den Berg, E. J., Joffe, M., Ayeni, O. A., Cubasch, H., Nietz, S., Mathew, C. G., Hayat, M., Neugut, A. I., Jacobson, J. S., Ruff, P., & Duarte, R. A. B. (2023). FGFR2 genetic variants in women with breast cancer. Molecular medicine reports, 28(6), 226. https://doi.org/10.3892/mmr.2023.13113
  12. Tsabedze, N., Ramsay, M., Krause, A., Wells, Q., Mpanya, D., & Manga, P. (2023). The genetic basis for adult-onset idiopathic dilated cardiomyopathy in people of African descent. Heart failure reviews, 28(4), 879–892. https://doi.org/10.1007/s10741-023-10302-9
  13. Tsabedze, N., Mpanya, D., Bailly, C., Nel, S., Grinter, S., Ramsay, M., Krause, A., Wells, Q., & Manga, P. (2023). Clinical characteristics and one-year all-cause mortality outcomes in Africans with dilated cardiomyopathy. International journal of cardiology, 387, 131142. https://doi.org/10.1016/j.ijcard.2023.131142
  14. Micklesfield, L. K., Munthali, R., Agongo, G., Asiki, G., Boua, P., Choma, S. S., Crowther, N. J., Fabian, J., Gómez-Olivé, F. X., Kabudula, C., Maimela, E., Mohamed, S. F., Nonterah, E. A., Raal, F. J., Sorgho, H., Tluway, F. D., Wade, A. N., Norris, S. A., Ramsay, M., & as members of AWI-Gen and the H3Africa Consortium (2023). Identifying the prevalence and correlates of multimorbidity in middle-aged men and women: a cross-sectional population-based study in four African countries. BMJ open, 13(3), e067788. https://doi.org/10.1136/bmjopen-2022-067788
  15. Carstens, N., Goolam, S., Hulley, M., Brandenburg, J. T., Ramsay, M., & Williams, S. E. I. (2023). Exome-based mutation screening in South African children with primary congenital glaucoma. Eye (London, England), 37(2), 362–368. https://doi.org/10.1038/s41433-022-01941-7
  16. Wade, A. N., Maposa, I., Agongo, G., Asiki, G., Boua, P., Choma, S. S. R., Gómez-Olivé, F. X., Maimela, E., Micklesfield, L. K., Mohamed, S. F., Nonterah, E. A., Norris, S. A., Sorgho, H., Ramsay, M., Crowther, N. J., & AWIGen and the H3Africa Consortium (2023). Diabetes care cascade and associated factors in 10 700 middle-aged adults in four sub-Saharan African countries: a cross-sectional study. BMJ open, 13(4), e069193. https://doi.org/10.1136/bmjopen-2022-069193
  17. Gao, S., Rohr, J. K., de Vivo, I., Ramsay, M., Krieger, N., Kabudula, C. W., Farrell, M. T., Bassil, D. T., Harriman, N. W., Corona-Perez, D., Pesic, K., & Berkman, L. F. (2023). Telomere length, health, and mortality in a cohort of older Black South African adults. The journals of gerontology. Series A, Biological sciences and medical sciences, glad153. Advance online publication. https://doi.org/10.1093/gerona/glad153
  18. Chikwati, R. P., Mahyoodeen, N. G., Jaff, N. G., Ramsay, M., Micklesfield, L. K., Wade, A. N., Agongo, G., Asiki, G., Choma, S. S. R., Boua, P. R., George, J. A., & Crowther, N. J. (2023). Cardiometabolic disease risk factors in pre- and postmenopausal women from four sub-Saharan African countries: A cross-sectional study. Maturitas, 172, 60–68. https://doi.org/10.1016/j.maturitas.2023.04.005
  19. Muti, M., Ware, L. J., Micklesfield, L. K., Ramsay, M., Agongo, G., Boua, P. R., Kisiangani, I., Cook, I., Gómez-Olivé, F. X., Crowther, N. J., Kabudula, C., Norris, S. A., & Chikowore, T. (2023). Physical Activity and Its Association With Body Mass Index: A Cross-Sectional Analysis in Middle-Aged Adults From 4 Sub-Saharan African Countries. Journal of physical activity & health, 20(3), 217–225. https://doi.org/10.1123/jpah.2022-0539
  20. Kintu, C., Soremekun, O., Kamiza, A. B., Kalungi, A., Mayanja, R., Kalyesubula, R., Bagaya S, B., Jjingo, D., Fabian, J., Gill, D., Nyirenda, M., Nitsch, D., Chikowore, T., & Fatumo, S. (2023). The causal effects of lipid traits on kidney function in Africans: bidirectional and multivariable Mendelian-randomization study. EBioMedicine, 90, 104537. https://doi.org/10.1016/j.ebiom.2023.104537
  21. Mayanja, R., Machipisa, T., Soremekun, O., Kamiza, A. B., Kintu, C., Kalungi, A., Kalyesubula, R., Sande, O. J., Jjingo, D., Fabian, J., Robinson-Cohen, C., Franceschini, N., Nitsch, D., Nyirenda, M., Zeggini, E., Morris, A. P., Chikowore, T., & Fatumo, S. (2023). Genome-wide association analysis of cystatin-C kidney function in continental Africa. EBioMedicine, 95, 104775. https://doi.org/10.1016/j.ebiom.2023.104775
  22. Kamiza, A. B., Touré, S. M., Zhou, F., Soremekun, O., Cissé, C., Wélé, M., Touré, A. M., Nashiru, O., Corpas, M., Nyirenda, M., Crampin, A., Shaffer, J., Doumbia, S., Zeggini, E., Morris, A. P., Asimit, J. L., Chikowore, T., & Fatumo, S. (2023). Multi-trait discovery and fine-mapping of lipid loci in 125,000 individuals of African ancestry. Nature communications, 14(1), 5403. https://doi.org/10.1038/s41467-023-41271-0
  23. Udosen, B., Soremekun, O., Kamiza, A., Machipisa, T., Cheickna, C., Omotuyi, O., Soliman, M., Wélé, M., Nashiru, O., Chikowore, T., & Fatumo, S. (2023). Meta-Analysis and Multivariate GWAS Analyses in 77,850 Individuals of African Ancestry Identify Novel Variants Associated with Blood Pressure Traits. International journal of molecular sciences, 24(3), 2164. https://doi.org/10.3390/ijms24032164
  24. Khoza, N., Twesigomwe, D., & Othman, H. (2023). Characterizing the combined effects of cytochrome P450 missense variation within star allele definitions. Pharmacogenomics, 24(10), 561–578. https://doi.org/10.2217/pgs-2023-0068
  25. Misra, S., Aguilar-Salinas, C. A., Chikowore, T., Konradsen, F., Ma, R. C. W., Mbau, L., Mohan, V., Morton, R. W., Nyirenda, M. J., Tapela, N., & Franks, P. W. (2023). The case for precision medicine in the prevention, diagnosis, and treatment of cardiometabolic diseases in low-income and middle-income countries. The lancet. Diabetes & endocrinology, S2213-8587(23)00164-X. Advance online publication. https://doi.org/10.1016/S2213-8587(23)00164-X
  26. Nembaware, V., Bennett, D., Chimusa, E. R., Chikowore, T., Daodu, R., Bitoungui, V. N., Williams, S. M., Fatumo, S., Healy, S., Seoighe, C., Wonkam, A., & African Society of Human Genetics (2023). The African Society of Human Genetics successfully launches global data science workshops. Trends in genetics : TIG, 39(11), 803–807. https://doi.org/10.1016/j.tig.2023.06.004
  27. Soremekun, C., Machipisa, T., Soremekun, O., Pirie, F., Oyekanmi, N., Motala, A. A., Chikowore, T., & Fatumo, S. (2023). Multivariate GWAS analysis reveals loci associated with liver functions in continental African populations. PloS one, 18(2), e0280344. https://doi.org/10.1371/journal.pone.0280344
  28. Mendham, A. E., Micklesfield, L. K., Karpe, F., Kengne, A. P., Chikowore, T., Kufe, C. N., Masemola, M., Crowther, N. J., Norris, S. A., Olsson, T., Elmståhl, S., Fall, T., Lind, L., & Goedecke, J. H. (2023). Targeted proteomics identifies potential biomarkers of dysglycaemia, beta cell function and insulin sensitivity in Black African men and women. Diabetologia, 66(1), 174–189. https://doi.org/10.1007/s00125-022-05788-1
  29. Motlhale M, Muchengeti M, Bradshaw D, Chen WC, Singini MG, de Villiers CB, Lewis CM, Bender N, Mathew CG, Newton R, Waterboer T, Singh E, Sitas F. (2023). Kaposi sarcoma-associated herpesvirus, HIV-1 and Kaposi sarcoma risk in black South Africans diagnosed with cancer during antiretroviral treatment rollout. Int J Cancer. 2023 May 15;152(10):2081-2089. doi: 10.1002/ijc.34454. Epub 2023 Feb 15. PMID: 36727526
2022
  1. Fatumo S, Chikowore T, Choudhury A, Ayub M, Martin AR, Kuchenbaecker K. (2022). A roadmap to increase diversity in genomic studies. Nat Med. 28(2):243-250. doi: 10.1038/s41591-021-01672-4. Epub 202 Feb 10. PMID:35145307.
  2. Chikowore T, Ekoru K, Vujkovi M, Gill D, Pirie F, Young E, Sandhu MS, McCarthy M, Rotimi C, Adeyemo A, Motala A, Fatumo S. (2022). Polygenic Prediction of Type 2 Diabetes in Africa. Diabetes Care. 45(3):717-723. doi:10.2337/dc21-0365. PMID: 35015074. 
  3. Agalliu I, Lin WJ, Zhang JS, Jacobson JS, Rohan TE, Adusei B, Snyper NYF, Andrews C, Sidahmed E, Mensah JE, Biritwum R, Adjei AA, Okyne V, Ainuson-Quampah J, Fernandez P, Irusen H, Odiaka E, Folasire OF, Ifeoluwa MG, Aisuodionoe-Shadrach OI, Nwegbu MM, Pentz A, Chen WC, Joffe M, Neugut AI, Diallo TA, Jalloh M, Rebbeck TR, Adebiyi AO, Hsing AW. (2022). Overall and central obesity and prostate cancer risk in African men. Cancer Causes Control. 33(2):223-239. doi:10.1007/s10552-021-01515-0.
  4. Fatumo S, Chikowore T, Kuchenbaecker K. (2022). Editorial: Genetics of Complex Traits and Diseases from Under-Represented Populations. Front Genet. 12:817683. doi: 10.3389/fgene.2021.817683. PMID: 35111206; PMCID: PMC8801802.
  5. Ramsay M. (2022). African genomic data sharing and the struggle for equitable benefit. Patterns (N Y). 14;3(1):100412. doi:10.1016/j.patter.2021.100412. PMID: 35079718; PMCID: PMC8767304. Impact Factor: 1.224
  6. Othman H, Zass L, da Rocha JEB, Radouani F, Samtal C, Benamri I, Kumuthini J, Fakim YJ, Hamdi Y, Mezzi N, Boujemaa M, Okeke CJ, Tendwa MB, Sanak K, Chaouch M, Panji S, Kefi R, Sallam RM, Ghoorah AW, Romdhane L, Kiran A, Meintjes AP, Maturure P, Jmel H, Ksouri A, Azzouzi M, Farahat MA, Ahmed S, Sibira R, Turkson MEE, Ssekagiri A, Parker Z, Fadlelmola FM, Ghedira K, Mulder N, Kamal Kassim S. (2022). African Genomic Medicine Portal: A Web Portal for Biomedical Applications. J Pers Med.;12(2):265. doi: 10.3390/jpm12020265.
  7. Carstens, N., Goolam, S., Hulley, M., Brandenburg, J. T., Ramsay, M., & Williams, S. (2022). Exome-based mutation screening in South African children with primary congenital glaucoma. Eye (London, England), 10.1038/s41433-022-01941-7. Advance online publication. https://doi.org/10.1038/s41433-022-01941-7 
  8. Othman H, Jemimah S, da Rocha JEB. (2022). SWAAT Bioinformatics Workflow for Protein Structure-Based Annotation of ADME Gene Variants. J Pers Med. 12(2):263. doi: 10.3390/jpm12020263. PMID: 35207751; PMCID: PMC8875676.
  9. Boua PR, Brandenburg JT, Choudhury A, Sorgho H, Nonterah EA, Agongo G, Asiki G, Micklesfield L, Choma S, Gómez-Olivé FX, Hazelhurst S, Tinto H, Crowther NJ, Mathew CG, Ramsay M; AWI-Gen Study; H3Africa Consortium. (2022). Genetic associations with carotid intima-media thickness link to atherosclerosis with sex-specific effects in sub-Saharan Africans. Nat Commun. 13(1):855. doi:10.1038/s41467-022-28276-x. PMID: 35165267; PMCID: PMC8844072. Impact Factor: 14.92
  10. Ayeni OA, O'Neil DS, Pumpalova YS, Chen WC, Nietz S, Phakathi B, Buccimazza I, Čačala S, Stopforth LW, Farrow HA, Mapanga W, Joffe M, Chirwa T, McCormack V, Jacobson JS, Crew KD, Neugut AI, Ruff P, Cubasch H.(2022). Impact of HIV infection on survival among women with stage I-III breast cancer: Results from the South African breast cancer and HIV outcomes study. Int J Cancer. doi: 10.1002/ijc.33981. Epub ahead of print. PMID: 35218568.
  11. Othman H, Messaoud HB, Khamessi O, Ben-Mabrouk H, Ghedira K, Bharuthram A, Treurnicht F, Achilonu I, Sayed Y, Srairi-Abid N.(2022). SARS-CoV-2 Spike Protein Unlikely to Bind to Integrins the Arg-Gly-Asp (RGD) Motif of the Receptor Binding Domain: Evidence from Structural Analysis and Microscale Accelerated Molecular Dynamics. Front Mol Biosci.;9:834857. doi: 10.3389/fmolb.2022.834857. PMID: 35237662; PMCID: PMC8883519. 
  12. Abnet, C.C….Mathew, C.G……and The African Esophageal Cancer Consortium. (2022). Expanding oesophageal cancer research and care in eastern Africa. Nat Rev Cancer https://doi.org/10.1038/s41568-022-00458-1 
  13. Batista da Rocha, J., Othman, H., & Hazelhurst, S. (2022). Molecular dynamics of G6PD variants from sub-Saharan Africa. Biochemistry and biophysics reports, 30, 101236. https://doi.org/10.1016/j.bbrep.2022.101236 
  14. Adebamowo, C. A., Adeyemo, A., Ashaye, A., Akpa, O. M., Chikowore, T., Choudhury, A., Fakim, Y. J., Fatumo, S., Hanchard, N., Hauser, M., Mitchell, B., Mulder, N., Ofori-Acquah, S. F., Owolabi, M., Ramsay, M., Tayo, B., VasanthKumar, A. B., Zhang, Y., & Adebamowo, S. N. (2022). Polygenic risk scores for CARDINAL study. Nature genetics, 10.1038/s41588-022-01074-3. Advance online publication. https://doi.org/10.1038/s41588-022-01074-3 
  15. Choudhury, A., Brandenburg, JT., Chikowore, T. et al. Meta-analysis of sub-Saharan African studies provides insights into genetic architecture of lipid traits. Nat Commun 13, 2578 (2022). https://doi.org/10.1038/s41467-022-30098-w
  16. Motlhale, M., Sitas, F., Bradshaw, D., Chen, W. C., Singini, M. G., de Villiers, C. B., Lewis, C. M., Muchengeti, M., Waterboer, T., Mathew, C. G., Newton, R., & Singh, E. (2022). Lifestyle factors associated with sex differences in Kaposi sarcoma incidence among adult black South Africans: A case-control study. Cancer epidemiology, 78, 102158. Advance online publication. https://doi.org/10.1016/j.canep.2022.102158 
  17. Kisiangani, I., Mohamed, S. F., Kyobutungi, C., Tindana, P., Ghansah, A., Ramsay, M., & Asiki, G. (2022). Perspectives on returning individual and aggregate genomic research results to study participants and communities in Kenya: a qualitative study. BMC medical ethics, 23(1), 27. https://doi.org/10.1186/s12910-022-00767-y 
  18. Simba, H., Tromp, G., Sewram, V., Mathew, C. G., Chen, W. C., & Kuivaniemi, H. (2022). Esophageal Cancer Genomics in Africa: Recommendations for Future Research. Frontiers in genetics, 13, 864575. https://doi.org/10.3389/fgene.2022.864575
  19. Ramsay M. (2022). African genomic data sharing and the struggle for equitable benefit. Patterns (New York, N.Y.), 3(1), 100412. https://doi.org/10.1016/j.patter.2021.100412 
  20. Nakabuye, M., Kamiza, A. B., Soremekun, O., Machipisa, T., Cohen, E., Pirie, F., Nashiru, O., Young, E., Sandhu, M. S., Motala, A. A., Chikowore, T., & Fatumo, S. (2022). Genetic loci implicated in meta-analysis of body shape in Africans. Nutrition, metabolism, and cardiovascular diseases: NMCD, S0939-4753(22)00127-2. Advance online publication. https://doi.org/10.1016/j.numecd.2022.03.010
  21. Kamiza, A. B., Fatumo, S., Singini, M. G., Yeh, C. C., & Chikowore, T. (2022). Hepatitis B infection is causally associated with extrahepatic cancers: A Mendelian randomization study. EBioMedicine, 79, 104003. Advance online publication. https://doi.org/10.1016/j.ebiom.2022.104003 
  22. Adebamowo, C. A., Adeyemo, A., Ashaye, A., Akpa, O. M., Chikowore, T., Choudhury, A., Fakim, Y. J., Fatumo, S., Hanchard, N., Hauser, M., Mitchell, B., Mulder, N., Ofori-Acquah, S. F., Owolabi, M., Ramsay, M., Tayo, B., VasanthKumar, A. B., Zhang, Y., & Adebamowo, S. N. (2022). Polygenic risk scores for CARDINAL study. Nature genetics, 54(5), 527–530. https://doi.org/10.1038/s41588-022-01074-3
  23. Ramdas, S., Judd, J., Graham, S. E., Kanoni, S., Wang, Y., Surakka, I., Wenz, B., Clarke, S. L., Chesi, A., Wells, A., Bhatti, K. F., Vedantam, S., Winkler, T. W., Locke, A. E., Marouli, E., Zajac, G., Wu, K. H., Ntalla, I., Hui, Q., Klarin, D., … Brown, C. D. (2022). A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids. American journal of human genetics, 109(8), 1366–1387. https://doi.org/10.1016/j.ajhg.2022.06.012 
  24. Ramsay M. (2022). African genomic data sharing and the struggle for equitable benefit. Patterns (New York, N.Y.), 3(1), 100412. https://doi.org/10.1016/j.patter.2021.100412 
  25. Brandenburg, J. T., Govender, M. A., Winkler, C. A., Boua, P. R., Agongo, G., Fabian, J., & Ramsay, M. (2022). Apolipoprotein L1 High-Risk Genotypes and Albuminuria in Sub-Saharan African Populations. Clinical journal of the American Society of Nephrology : CJASN, 17(6), 798–808. https://doi.org/10.2215/CJN.14321121 
  26. Akpa, O. M., Okekunle, A. P., Asowata, O. J., Chikowore, T., Mohamed, S. F., Sarfo, F., Akinyemi, R., Akpalu, A., Wahab, K., Obiako, R., Komolafe, M., Owolabi, L., Osaigbovo, G. O., Ogbole, G., Tiwari, H. K., Akinyemi, J., Fakunle, A., Uvere, E., Adeoye, A., Lackland, D., … Owolabi, M. (2022). Frequent vegetable consumption is inversely associated with Hypertension among indigenous Africans. European journal of preventive cardiology, zwac208. Advance online publication. https://doi.org/10.1093/eurjpc/zwac208 
  27. Twesigomwe, D., Drögemöller, B. I., Wright, G., Adebamowo, C., Agongo, G., Boua, P. R., Matshaba, M., Paximadis, M., Ramsay, M., Simo, G., Simuunza, M. C., Tiemessen, C. T., Lombard, Z., & Hazelhurst, S. (2022). Characterisation of CYP2D6 pharmacogenetic variation in sub-Saharan African populations. Clinical pharmacology and therapeutics, 10.1002/cpt.2749. Advance online publication. https://doi.org/10.1002/cpt.2749 
  28. Choudhury, A., Brandenburg, J. T., Chikowore, T., Sengupta, D., Boua, P. R., Crowther, N. J., Agongo, G., Asiki, G., Gómez-Olivé, F. X., Kisiangani, I., Maimela, E., Masemola-Maphutha, M., Micklesfield, L. K., Nonterah, E. A., Norris, S. A., Sorgho, H., Tinto, H., Tollman, S., Graham, S. E., Willer, C. J., … Ramsay, M. (2022). Meta-analysis of sub-Saharan African studies provides insights into genetic architecture of lipid traits. Nature communications, 13(1), 2578. https://doi.org/10.1038/s41467-022-30098-w 
  29. Nonterah, E. A., Boateng, D., Crowther, N. J., Klipstein-Grobusch, K., Oduro, A. R., Agongo, G., Mohamed, S. F., Boua, P. R., Choma, S., Norris, S. A., Tollman, S. M., Bots, M. L., Ramsay, M., & Grobbee, D. (2022). Carotid Atherosclerosis, Microalbuminuria, and Estimated 10-Year Atherosclerotic Cardiovascular Disease Risk in Sub-Saharan Africa. JAMA network open, 5(4), e227559. https://doi.org/10.1001/jamanetworkopen.2022.7559 
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2021
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  52. Makura-Kankwende, C. B. T., Gradidge, P. J., Crowther, N. J., Norris, S. A., & Chikowore, T. (2021). Nutrient patterns and body composition parameters of black south african women. Nutrients, 13(1), 1-12. https://doi.org/10.3390/nu13010006
  53. Mathew, J. M., Mpangase, P. T., Sengupta, D., Kwenda, S., Mavri-Damelin, D., & Ramsay, M. (2021). UGT1A1 regulatory variant with potential effect on efficacy of HIV and cancer drugs commonly prescribed in South Africa. Pharmacogenomics, 22(15), 963–972. https://doi.org/10.2217/pgs-2021-0062
  54. Mapanga, W., Norris, S. A., Chen, W. C., Blanchard, C., Graham, A., Baldwin-Ragaven, L., . . . Joffe, M. (2021). Consensus study on the health system and patient-related barriers for lung cancer management in South Africa. PLoS ONE, 16(2) https://doi.org/10.1371/journal.pone.0246716
  55. Motsuku, L., Chen, W. C., Muchengeti, M. M., Naidoo, M., Quene, T. M., Kellett, P., . . . Singh, E. (2021). Colorectal cancer incidence and mortality trends by sex and population group in South Africa: 2002–2014. BMC Cancer, 21(1) https://doi.org/10.1186/s12885-021-07853-1
  56. Mulder, N., Zass, L., Hamdi, Y., Othman, H., Panji, S., Allali, I., & Fakim, Y. J. (2021). African Global Representation in Biomedical Sciences. Annual Review of Biomedical Data Science, 4, 57–81. https://doi.org/10.1146/annurev-biodatasci-102920-112550
  57. Nabouli, I., Chikhaoui, A., Othman, H., Elouej, S., Jones, M., Lagarde, A., Rekaya, M. B., Messaoud, O., Zghal, M., Delague, V., Levy, N., De Sandre-Giovannoli, A., Abdelhak, S., & Yacoub-Youssef, H. (2021). Case Report: Identification of Novel Variants in ERCC4 and DDB2 Genes in Two Tunisian Patients with Atypical Xeroderma Pigmentosum Phenotype. Frontiers in Genetics, 12, 650639. https://doi.org/10.3389/fgene.2021.650639
  58. Ndlovu, B.C., Sengayi-Muchengeti, M., Kellett, P., Kuonza, L., Cubasch, H., Singh, E and Chen, W.C. (2021) Completeness of Reporting for Breast Cancer Data in the National Pathology-Based Cancer Registry in South Africa. Journal of Registry Management, 48 (2)
  59. Nonterah, E. A., Bots, M. L., Oduro, A., Agongo, G., Soo, C. C., Micklesfield, L. K., . . . Crowther, N. J. (2021). Adiposity phenotypes and subclinical atherosclerosis in adults from sub-Saharan Africa: An H3Africa AWI-Gen study.Global Heart, 16(1) https://doi.org/10.5334/gh.863
  60. Nonterah, E. A., Crowther, N. J., Oduro, A., Agongo, G., Micklesfield, L. K., Boua, P. R., . . . Ramsay, M, Klipstein-Grobusch, K. (2021). Poor cardiovascular health is associated with subclinical atherosclerosis in apparently healthy sub-saharan african populations: An H3Africa AWI-gen study. BMC Medicine, 19(1 https://doi.org/10.1186/s12916-021-01909-6
  61. Othman, H., da Rocha, J. E. B., & Hazelhurst, S. (2021). Single nucleotide polymorphism induces divergent dynamic patterns in cyp3a5: A microsecond scale biomolecular simulation of variants identified in sub-Saharan African populations.International Journal of Molecular Sciences, 22(15) https://doi.org/10.3390/ijms22157786 
  62. Pantanowitz L, Wu U, Seigh L, LoPresti E, Yeh F-C, Yeh J, Salgia P, Michelow P, Hazelhurst S, Chen W, Hartman D. (2021). Artificial intelligence-based screening for mycobacteria in whole-slide images of tissue samples.American Journal of Clinical Pathology, 156(1), 117-128. https://doi.org/10.1093/ajcp/aqaa215
  63. Paximadis, M., Picton, A. C. P., Sengupta, D., Ramsay, M., Puren, A., & Tiemessen, C. T. (2021). Interleukin-8 genetic diversity, haplotype structure and production differ in two ethnically distinct south african populations.Cytokine, 143 https://doi.org/10.1016/j.cyto.2021.155489
  64. Pereira, L., Mutesa, L., Tindana, P., & Ramsay, M. (2021). African genetic diversity and adaptation inform a precision medicine agenda.Nature Reviews Genetics, 22(5), 284-306. https://doi.org/10.1038/s41576-020-00306-8
  65. Pumpalova, Y. S., Ayeni, O. A., Chen, W. C., O’Neil, D. S., Nietz, S., Phakathi, B., . . . Neugut, A. I. (2021). Impact of HIV infection on overall survival among women with stage IV breast cancer in South Africa. Breast Cancer Research and Treatment, 189(1), 285-296. https://doi.org/10.1007/s10549-021-06265-w
  66. Ramsay, M. (2021). Marianne Alberts (1928-2020): Caring, compassionate and humble biochemist and pioneer.South African Journal of Science, 117(3-4) https://doi.org/10.17159/sajs.2021/9458
  67. Ramsay, M., Schlebusch, C., & Davies, K. (2021). Evolutionary genomics in Africa.Human Molecular Genetics, 30(R1), R1. https://doi.org/10.1093/hmg/ddab030
  68. Ras, V., Botha, G., Aron, S., Lennard, K., Allali, I., Weitz, S. C., . . . Mulder, N. (2021). Using a multiple-delivery-mode training approach to develop local capacity and infrastructure for advanced bioinformatics in Africa. PLoS Computational Biology, 17(2) https://doi.org/10.1371/journal.pcbi.1008640
  69. Scliar, M. O., Sant’Anna, H. P., Santolalla, M. L., Leal, T. P., Araújo, N. M., Alvim, I., . . Choudhury, A., Ramsay, M., et al (2021). Admixture/fine-mapping in Brazilians reveals a west African associated potential regulatory variant (rs114066381) with a strong female-specific effect on body mass and fat mass indexes.International Journal of Obesity, 45(5), 1017-1029. https://doi.org/10.1038/s41366-021-00761-1
  70. Sengupta, D., Choudhury, A., Fortes-Lima, C., Aron, S., Whitelaw, G., Bostoen, K., . . . Ramsay, M. (2021). Genetic substructure and complex demographic history of South African Bantu speakers.Nature Communications, 12(1), 2080. https://doi.org/10.1038/s41467-021-22207-y
  71. Soremekun, O. S., Ezenwa, C., Soliman, M., Chikowore, T., Nashiru, O., & Fatumo, S. (2021). Transcription-translation error: In-silico investigation of the structural and functional impact of deleterious single nucleotide polymorphisms in GULP1 gene. Informatics in Medicine Unlocked, 22 https://doi.org/10.1016/j.imu.2020.100503
  72. Wagner, R. G., Crowther, N. J., Micklesfield, L. K., Boua, P. R., Nonterah, E. A., Mashinya, F., . . . Davies, J. I. (2021). Estimating the burden of cardiovascular risk in community dwellers over 40 years old in South Africa, Kenya, Burkina Faso and Ghana. BMJ Global Health, 6(1) https://doi.org/10.1136/bmjgh-2020-003499
  73. Wernecke, B., Wright, C.Y., Hey, J.V., Piketh, S., Burger, R., Kunene, Z., Panchal, R., Millar, D., Oosthuizen, D.N., Batini, C., John, C., Guyatt, A.L., Packer, R.J., Tobin, M.D., Hansell, A., Gulliver, J., Cordell, R.L., Micklesfield, L.K., RamsayI, I.M., Gayenga, J., Xavier Gómez-Olivé, F., Ngobeni, K., Baloyi, V. and Language, B. (2021). Opportunities for the application of low-cost sensors in epidemiological studies to advance evidence of air pollution impacts on human health. Clean Air J, 31, https://dx.doi.org/10.17159/caj/2021/31/1.11219 (COMMENTARY)
  74. Twesigomwe, D., Drögemöller, B. I., Wright, G. E. B., Siddiqui, A., da Rocha,, Lombard, Z., & Hazelhurst, S. (2021). StellarPGx: A nextflow pipeline for calling star alleles in cytochrome P450 genes.Clinical Pharmacology and Therapeutics, 110(3), 741-749. https://doi.org/10.1002/cpt.2173
  75. Yusuf AA, Govender MA, Brandenburg JT and Winkler CA (2021) Kidney disease and APOL1. Human Molecular Genetics. 30 (R1) R129–R137, https://doi.org/10.1093/hmg/ddab024
  76. Singh S, Brandenburg J-T, Choudhury A, Gómez-Olivé FX and Ramsay M (2021) Systematic Review of Genomic Associations with Blood Pressure and Hypertension in Populations with African-Ancestry. Frontiers in Genetics 12:699445. doi: 10.3389/fgene.2021.699445 https://doi.org/10.3389/fgene.2021.6994
  77. Staunton, C., Adams, R., Botes, M., de Vries, J., Labuschaigne, M., Loots, G., Mahomed, S., Loideain, N., Olckers, A., Pepper, M., Pope, A., & Ramsay, M. (2021). Enabling the use of health data for research: Developing a POPIA code of conduct for research in South Africa. South African Journal Of Bioethics And Law, 14(1), 33. doi:10.7196/SAJBL.2021.v14i1.00740 https://doi.org/10.7196/SAJBL.2021.v14i1.740 
2020
  1. Boua, R., Brandenburg, J-T.,Choudhury, A., Hazelhurst, S., Sengupta, D., Agongo, G., Nonterah, E., Oduro, A., & Tinto, H., & Mathew, C., Sorgho, H., and  Ramsay, M. (2020) Novel and Known Gene-Smoking Interactions With cIMT Identified as Potential Drivers for Atherosclerosis Risk in West-African Populations of the AWI-Gen Study. Frontiers in Genetics. 10:1354. https://doi.org/10.3389/fgene.2019.01354
  2. Agongo, G., Nonterah, E.A., Amenga-Etego, L., Debpuur, C., Kaburise, M.B., Ali, S.A., Crowther, N.J., Ramsay, M., Oduro, A.R. (2020) Blood Pressure Indices and Associated Risk Factors in a Rural West African Adult Population: Insights from an AWI-Gen Sub-study in Ghana. International Journal of Hypertension. 2020:4549031. https://doi.org/10.1155/2020/4549031
  3. Musanabaganwa, C., Mihigo, B., Tumusime, R., Uwanyirigira, M., da Rocha, J., Hayat, M., Govender, M., Buto, P., Nyunga, T., Ramesar, R. S., Rotimi, C., Souopgui, J., Wonkam, A., Williams, S. M., Jansen, S., Ramsay, M., & Mutesa, L. (2020) Building Skills and Resources for Genomics, Epigenetics, and Bioinformatics Research for Africa: Report of the Joint 11th Conference of the African Society of Human Genetics and 12th H3Africa Consortium, 2018. The American Journal of Tropical Medicine and Hygiene, 102(6), 1417–1424. https://doi.org/10.4269/ajtmh.19-0837
  4. Aramburu, O., Ceballos, F., Casanova, A., Le Moan, A., Hemmer-Hansen, J., Bekkevold, D., Bouza, C., & Martínez, P. (2020) Genomic Signatures After Five Generations of Intensive Selective Breeding: Runs of Homozygosity and Genetic Diversity in Representative Domestic and Wild Populations of Turbot (Scophthalmus maximus). Frontiers in Genetics, 11, 296. https://doi.org/10.3389/fgene.2020.00296
  5. Taylor, K. M., Hanscombe, K. B., Prescott, N. J., Iniesta, R., Traylor, M., Taylor, N. S., Fong, S., Powell, N., Irving, P. M., Anderson, S. H., Mathew, C. G., Lewis, C. M., & Sanderson, J. D. (2020) Genetic and Inflammatory Biomarkers Classify Small Intestine Inflammation in Asymptomatic First-degree Relatives of Patients With Crohn's Disease. Clinical Gastroenterology and Hepatology, 18(4), 908–916.e13. https://doi.org/10.1016/j.cgh.2019.05.061 
  6. Mpangase, P.T., Frost, J., Ramsay, M., Hazelhurst, S. (2020) nf-rnaSeqMetagen: A nextflow metagenomics pipeline for identifying and characterizing microbial sequences from RNA-seq data. Medicine in Microecology. 4:100011. https://doi.org/10.1016/j.medmic.2020.100011
  7. Hayat, M., Kerr, R., Bentley, A.R., Rotimi, C.N., Raal, F.J., Ramsay, M. (2020) Genetic associations between serum low LDL-cholesterol levels and variants in LDLR, APOB, PCSK9 and LDLRAP1 in African populations. PLoS ONE 15(2): e0229098. https://doi.org/10.1371/journal.pone.0229098I
  8. Othman, H., Bouslama, Z., Brandenburg, J. T., da Rocha, J., Hamdi, Y., Ghedira, K., Srairi-Abid, N., & Hazelhurst, S. (2020) Interaction of the spike protein RBD from SARS-CoV-2 with ACE2: Similarity with SARS-CoV, hot-spot analysis and effect of the receptor polymorphism. Biochemical and Biophysical Research Communications, 527(3), 702–708. https://doi.org/10.1016/j.bbrc.2020.05.028
  9. Kamiza, A. B., Kamiza, S., Singini, M. G., & Mathew, C. G. (2020) Association of TP53 rs1042522 with cervical cancer in the sub-Saharan African population: a meta-analysis. Tropical Medicine & International Health: TM & IH, 25(6), 666–672. https://doi.org/10.1111/tmi.13397
  10. Chen, W. C., Singh, E., Muchengeti, M., Bradshaw, D., Mathew, C. G., Babb de Villiers, C., Lewis, C. M., Waterboer, T., Newton, R., & Sitas, F. (2020) Johannesburg Cancer Study (JCS): contribution to knowledge and opportunities arising from 20 years of data collection in an African setting. Cancer Epidemiology, 65, 101701. https://doi.org/10.1016/j.canep.2020.101701
  11. Kamiza, A.B., Kamiza, S., and Mathew, C.G. (2020) HLA-DRB1 alleles and cervical cancer: A meta-analysis of 36 case-control studies. Cancer Epidemiology. 67, 101748. https://doi.org/10.1016/j.canep.2020.10174
  12. Tindana, P., Ramsay, M., Klipstein-Grobusch, K., and Amoakoh-Coleman, M. (2020) Advancing non-communicable diseases research in Ghana: key stakeholders’ recommendations from a symposium. Ghana Med J., 54(2): 121-125. http://dx.doi.org/10.4314/gmj.v54i2.11
  13. Twesigomwe, D., Wright, G., Drögemöller, B. I., da Rocha, J., Lombard, Z., & Hazelhurst, S. (2020). A systematic comparison of pharmacogene star allele calling bioinformatics algorithms: a focus on CYP2D6NPJ Genomic Medicine, 5, 30. https://doi.org/10.1038/s41525-020-0135-2
  14. Olago, V.; Muchengeti, M.; Singh, E.; Chen, W.C. Identification of Malignancies from Free-Text Histopathology Reports Using a Multi-Model Supervised Machine Learning Approach. Information2020, 11, 455. https://doi.org/10.3390/info11090455
  15. Nietz, S., O'Neil, D. S., Ayeni, O., Chen, W. C., Joffe, M., Jacobson, J. S., Neugut, A. I., Ruff, P., Mapanga, W., Buccimazza, I., Singh, U., Čačala, S., Stopforth, L., Phakathi, B., Chirwa, T., & Cubasch, H. (2020). A comparison of complete pathologic response rates following neoadjuvant chemotherapy among South African breast cancer patients with and without concurrent HIV infection. Breast cancer research and treatment, 184(3), 861–872. https://doi.org/10.1007/s10549-020-05889-8
  16. Radouani, F., Zass, L., Hamdi, Y., Rocha, J. D., Sallam, R., Abdelhak, S., Ahmed, S., Azzouzi, M., Benamri, I., Benkahla, A., Bouhaouala-Zahar, B., Chaouch, M., Jmel, H., Kefi, R., Ksouri, A., Kumuthini, J., Masilela, P., Masimirembwa, C., Othman, H., Panji, S., … Mulder, N. (2020). A review of clinical pharmacogenetics Studies in African populations. Personalized medicine, 17(2), 155–170. https://doi.org/10.2217/pme-2019-0110
  17. Roberts, L., Julius, S., Dawlat, S., Yildiz, S., Rebello, G., Meldau, S., Pillay, K., Esterhuizen, A., Vorster, A., Benefeld, G., da Rocha, J., Beighton, P., Sellars, S. L., Thandrayen, K., Pettifor, J. M., & Ramesar, R. S. (2020). Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B. Human mutation, 41(11), 1871–1876. https://doi.org/10.1002/humu.24094
  18. Choudhury A, Aron S, Botigué LR, Sengupta D, Botha G, Bensellak T, Wells G, Kumuthini J, Shriner D, Fakim YJ, Ghoorah AW, Dareng E, Odia T, Falola O, Adebiyi E, Hazelhurst S, Mazandu G, Nyangiri OA, Mbiyavanga M, Benkahla A, Kassim SK, Mulder N, Adebamowo SN, Chimusa ER, Muzny D, Metcalf G, Gibbs RA; TrypanoGEN Research Group, Rotimi C, Ramsay M; H3Africa Consortium, Adeyemo AA, Lombard Z, Hanchard NA. (2020). High-depth African genomes inform human migration and health. Nature, 586(7831):741-748. https://doi.org/10.1038/s41586-020-2859-7
  19. Oduaran OH, Tamburini FB, Sahibdeen V, Gómez-Olivé FX, Kahn K, Norris SA, Tollman S, Twine R, Wade AN, Wagner RG, Lombard Z, Bhatt AS, Hazelhurst S. (2020) Gut Microbiome Profiling of a Rural and Urban South African Cohort Reveals Biomarkers of a Population in Lifestyle Transition. BMC Microbiology.
  20. Agongo, G., Amenga-Etego, L., Nonterah, E. A., Debpuur, C., Choudhury, A., Bentley, A. R., Oduro, A. R., Rotimi, C. N., Crowther, N. J., Ramsay, M., AWI-Gen and H3Africa, & H Africa (2020). Candidate Gene Analysis Reveals Strong Association of CETPVariants With High Density Lipoprotein Cholesterol and PCSK9 Variants With Low Density Lipoprotein Cholesterol in Ghanaian Adults: An AWI-Gen Sub-Study. Frontiers in genetics, 11, 456661. https://doi.org/10.3389/fgene.2020.456661
  21. Choudhury, A., Sengupta, D., Ramsay, M., & Schlebusch, C. (2020). Bantu-speaker migration and admixture in southern Africa. Human molecular genetics, ddaa274. Advance online publication. https://doi.org/10.1093/hmg/ddaa274
  22. Ceballos, F. C., Hazelhurst, S., Clark, D. W., Agongo, G., Asiki, G., Boua, P. R., Xavier Gómez-Olivé, F., Mashinya, F., Norris, S., Wilson, J. F., & Ramsay, M. (2020). Autozygosity influences cardiometabolic disease-associated traits in the AWI-Gen sub-Saharan African study. Nature communications, 11(1), 5754. https://doi.org/10.1038/s41467-020-19595-y
  23. Nietz, S., Ruff, P., Chen, W. C., O'Neil, D. S., & Norris, S. A. (2020). Quality indicators for the diagnosis and surgical management of breast cancer in South Africa. Breast (Edinburgh, Scotland), 54, 187–196. https://doi.org/10.1016/j.breast.2020.09.012
  24. El-Kamah, G. Y., Mohamed, A. M., Gad, Y. Z., Abdelhak, S., Hennig, B. J., Ramesar, R. S., Landouré, G., Gaye, A., Newport, M. J., Williams, S. M., & Ramsay, M. (2020). Developing a Road Map to Spread Genomic Knowledge in Africa: 10th Conference of the African Society of Human Genetics, Cairo, Egypt. The American journal of tropical medicine and hygiene, 102(4), 719–723. https://doi.org/10.4269/ajtmh.19-0408
  25. Akpa OM, Made F, Ojo A, Ovbiagele B, Adu D, Motala AA, Mayosi BM, Adebamowo SN, Engel ME, Tayo B, Rotimi C, Salako B, Akinyemi R, Gebregziabher M, Sarfo F, Wahab K, Agongo G, Alberts M, Ali SA, Asiki G, Boua RP, Gómez-Olivé FX, Mashinya F, Micklesfield L, Mohamed SF, Nonterah EA, Norris SA, Sorgho H, Tollman S, Parekh RS, Chishala C, Ekoru K, Waddy SP, Peprah E, Mensah GA, Wiley K, Troyer J, Ramsay M, Owolabi MO; as members of the CVD Working Group of the H3Africa Consortium. (2020). Regional Patterns and Association Between Obesity and Hypertension in Africa: Evidence From the H3Africa CHAIR Study. Hypertension. 75(5):1167-1178. https://doi.org/10.1161/hypertensionaha.119.14147
  26. Sooklal, S. A., Mpangase, P. T., Tomescu, M. S., Aron, S., Hazelhurst, S., Archer, R. H., & Rumbold, K. (2020). Functional characterisation of the transcriptome from leaf tissue of the fluoroacetate-producing plant, Dichapetalum cymosum, in response to mechanical wounding. Scientific reports, 10(1), 20539. https://doi.org/10.1038/s41598-020-77598-7 
  27. Pantanowitz, L., Hartman, D., Qi, Y., Cho, E. Y., Suh, B., Paeng, K., Dhir, R., Michelow, P., Hazelhurst, S., Song, S. Y., & Cho, S. Y. (2020). Accuracy and efficiency of an artificial intelligence tool when counting breast mitoses. Diagnostic Pathology, 15(1), 80. https://doi.org/10.1186/s13000-020-00995-z
  28. Pantanowitz, L., Quiroga-Garza, G. M., Bien, L., Heled, R., Laifenfeld, D., Linhart, C., Sandbank, J., Albrecht Shach, A., Shalev, V., Vecsler, M., Michelow, P., Hazelhurst, S., & Dhir, R. (2020). An artificial intelligence algorithm for prostate cancer diagnosis in whole slide images of core needle biopsies: a blinded clinical validation and deployment study. The Lancet Digital Health, 2(8), e407–e416. https://doi.org/10.1016/S2589-7500(20)30159-X
  29. Nweke, E. E., Naicker, P., Aron, S., Stoychev, S., Devar, J., Tabb, D. L., Omoshoro-Jones, J., Smith, M., & Candy, G. (2020). SWATH-MS based proteomic profiling of pancreatic ductal adenocarcinoma tumours reveals the interplay between the extracellular matrix and related intracellular pathways. PloS one, 15(10), e0240453. https://doi.org/10.1371/journal.pone.0240453
  30. Mighri, N., Hamdi, Y., Boujemaa, M., Othman, H., Ben Nasr, S., El Benna, H., Mejri, N., Labidi, S., Ayari, J., Jaidene, O., Bouaziz, H., Ben Rekaya, M., M'rad, R., Haddaoui, A., Rahal, K., Boussen, H., Boubaker, S., & Abdelhak, S. (2020). Identification of Novel BRCA1 and RAD50 Mutations Associated With Breast Cancer Predisposition in Tunisian Patients. Frontiers in Genetics, 11, 552971. https://doi.org/10.3389/fgene.2020.552971 
  31. Ghedira, K., Kouidhi, S., Hamdi, Y., Othman, H., Kechaou, S., Znaidi, S., Haïtham, S., & Rabhi, I. (2020). Pathway Maps of Orphan and Complex Diseases Using an Integrative Computational Approach. BioMed research international, 2020, 4280467. https://doi.org/10.1155/2020/4280467
  32. Ghedira, K., Hamdi, Y., El Béji, A., & Othman, H. (2020). An Integrative Computational Approach for the Prediction of Human-Plasmodium Protein-Protein Interactions. BioMed research international, 2020, 2082540. https://doi.org/10.1155/2020/2082540
  33. Fatumo, S., Chikowore, T., Kalyesubula, R., Nsubuga, R. N., Asiki, G., Nashiru, O., Seeley, J., Crampin, A. C., Nitsch, D., Smeeth, L., Kaleebu, P., Nyirenda, M., Burgess, S., Franceschini, N., Morris, A. P., Tomlinson, L., & Newton, R. (2020). Discovery and fine-mapping of kidney function loci in first genome-wide association study in Africans. Human Molecular Genetics, ddab088, https://doi.org/10.1093/hmg/ddab088   
2019
  1. Ceballos F.C., Hazelhurst S. and Ramsay M. (2019) Runs of homozygosity in sub-Saharan African populations provide insights into complex demographic histories. Human Genetics; 138(10):1123-1142. doi: 1007/s00439-019-02045-1. Impact factor: 3.930
  2. Nonterah E.A., BouaR., Klipstein-Grobusch K., Asiki G., Micklesfield L.K., Agongo G., Ali S.A., Mashinya F., Sorgho H., Nakanabo-Diallo S., Debpuur C., Kyobutungi C., Alberts M., Norris S., Tollman S., Tinto H., Soo C.C., Mukomana F., Hazelhurst S., Wade A.N., Kahn K., Oduro A.R., Grobbee D.E., Sankoh O., Ramsay M., Bots M.L., Crowther N.J.; as members and collaborators of AWI‐Gen and the H3Africa Consortium. (2019) Classical Cardiovascular Risk Factors and HIV are Associated With Carotid Intima-Media Thickness in Adults From Sub-Saharan Africa: Findings From H3Africa AWI-Gen Study. Journal of the American Heart Association. 16;8(14): e011506. doi: 10.1161/JAHA.118.011506. Impact Factor: 4.45
  3. Tshabalala S., Choudhury A., Beeton-Kempen N., Martinson N., Ramsay M. and Mancama D. (2019) Targeted ultra-deep sequencing of a South African Bantu-speaking cohort to comprehensively map and characterize common and novel variants in 65 pharmacologically-related genes. Pharmacogenetics and Genomics. 29(7):167-178. doi: 1097/FPC.0000000000000380. Impact Factor: 2.693
  4. Owolabi M.O., Akpa O.M., Made F., Adebamowo S.N., Ojo A., Adu D., Motala A.A., Mayosi B.M., Ovbiagele B., Adebamowo C., Tayo B., Rotimi C., Akinyemi R., Gebregziabher M., Sarfo F., Wahab K.W., Parekh R.S., Engel M.E., Chisala C., Peprah E., Mensah G., Wiley K., Troyer J. and Ramsay M.; as members of the CVD Working Group of the H3Africa Consortium. (2019) Data Resource Profile: Cardiovascular H3Africa Innovation Resource (CHAIR). International Journal of Epidemiology. 48(2):366-367g. doi: 1093/ije/dyy261. Impact factor: 7.339
  5. Agongo G., Nonterah E.A., Debpuur C., Amenga-Etego L., Ali S., Oduro A., Crowther N.J. and Ramsay M.; as members of AWI-Gen and the H3Africa Consortium. (2019) Correction: The burden of dyslipidaemia and factors associated with lipid levels among adults in rural northern Ghana: An AWI-Gen sub-study. PLOS One. 27:14(2):e0213233. doi: 1371/journal.pone.0213233. Impact Factor: 2.776
  6. Berner D., Hoja U., Zenkel M., Ross J.J., Uebe S., Paoli D., Frezzotti P., Rautenbach R.M., Ziskind A., Williams S.E., Carmichael T.R., Ramsay M., Topouzis F., Chatzikyriakidou A., Lambropoulos A., Sundaresan P., Ayub H., Akhtar F., Qamar R., Zenteno J.C., Cruz-Aguilar M., Astakhov Y.S., Dubina M., Wiggs J., Ozaki M., Kruse F.E., Aung T., Reis A., Khor C.C., Pasutto F. and Schlötzer-Schrehardt U. (2019) The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome. Human Molecular Genetics. pii: ddz075. doi: 1093/hmg/ddz075. Impact Factor: 4.544
  7. Govind N., Reynolds R.J., Hodkinson B., Ickinger C., Ramsay M., Bridges S.L. Jr and Tikly M. (2019) HLA-DRB1 Amino Acid Positions and Residues Associated with Antibody-positive Rheumatoid Arthritis in Black South Africans. The Journal of Rheumatology. 46(2):138-144. doi: 3899/jrheum.180107. Impact factor: 3.470
  8. Frost J., Estivill X., Ramsay M. and Tikly M. (2019) Dysregulation of the Wnt signaling pathway in South African patients with diffuse systemic sclerosis. Clinical Rheumatology. 38(3):933-938. doi: 10.1007/s10067-018-4298-5. Impact Factor: 47
  9. Matejcic M., Mathew C.G. and Parker M.I. (2019) The Relationship Between Environmental Exposure and Genetic Architecture of the 2q33 Locus With Esophageal Cancer in South Africa. Frontiers in Genetics. 10:406. doi: 10.3389/fgene.2019.00406. eCollection. Impact Factor: 3.464
  10. Chen W.C., Bye H., Matejcic M., Amar A., Govender D., Khew Y.W., Beynon V., Kerr R., Singh E., Prescott N.J., Lewis C.M., Babb de Villiers C., Parker M.I. and Mathew C.G. (2019) Association of genetic variants in CHEK2 with oesophageal squamous cell carcinoma in the South African Black population. Carcinogenesis. 40(4):513-520. doi: 10.1093/carcin/bgz026. Impact Factor: 4.004
  11. Brewster R, Tamburini FB, Asiimwe E, Oduaran O, Hazelhurst S, Bhatt AS. (2019) Surveying Gut Microbiome Research in Africans: Toward Improved Diversity and Representation. Trends in Microbiology. 27 (10): 824-834. pii: S0966-842X(19)30134-9. doi: 10.1016/j.tim.2019.05.006. Review. Impact Factor: 11.974
  12. Zwane A.A., Schnabel R.D., Hoff J., Choudhury A., Makgahlela M.L., Maiwashe A., Van Marle-Koster E. and Taylor J.F. (2019) Genome-Wide SNP Discovery in Indigenous Cattle Breeds of South Africa. Frontiers in Genetics. 10:273. doi: 3389/fgene.2019.00273. eCollection. Impact Factor: 3.464
  13. Loubser S., Kwenda S., Sengupta D. and Tiemessen C.T. (2019) Identification of a novel allele, HLA-DPB1*34:01:01:03, in Black South African individuals. HLA: Immune Response (In Press). DOI: 1111/tan.13681. Impact Factor: 2.137
  14. Loubser S., Kwenda S., Sengupta D. and Tiemessen C.T. (2019) Identification of a novel recombinant allele, HLA-DPB1*835:01:01:02, in Black South African individuals. HLA: Immune Response (In Press). DOI: 1111/tan.13680. Impact Factor: 2.137
  15. Parker Z., Maslamoney S., Meintjes A., Botha G., Panji S., Hazelhurst S. and Mulder N. (2019) Building Infrastructure for African Human Genomic Data Management. Data Science Journal. 18: 47, pp. 1-8. DOI: https://doi.org/10.5334/dsj-2019-047. ISSN: 1683-1470. Impact factor: 85
  16. Steyn A., Crowther N.J., Norris S.A., Rabionet R., Estivill X. and Ramsay M. (2019) Epigenetic modification of the pentose phosphate pathway and the IGF-axis in women with gestational diabetes mellitus. 11(12):1371-1385. doi: 10.2217/epi-2018-0206. Impact factor: 4.404
  17. Pepper S., Dandara C., de Vries J., Dhai A., Labuschaigne M., Mnyongani F., Moodley K., Olckers A., Pope A., Ramesar R., Ramsay M. and Towers W. (2019) An optimistic vision for biosciences in South Africa: Reply to Thaldar et al. South African Journal of Science. 115 (No 7/8): DOI: https://doi.org/10.17159/sajs.2019/a0312. Impact factor: 1.351
  18. Ramsay M. (2019) Sydney Brenner (1927–2019): The opening game. South African Journal of Science: 115 (No 7/8): DOI: https://doi.org/10.17159/sajs.2019/a0311 Impact factor: 1.351
  19. George J.A., Brandenburg J.T., Fabian J., Crowther N.J., Agongo G., Alberts M., Ali S., Asiki G., Boua P.R., Gómez-Olivé F.X., Mashinya F., Micklesfield L., Mohamed S.F., Mukomana F., Norris S.A., Oduro A.R., Soo C., Sorgho H., Wade A., Naicker S. and Ramsay M.; AWI-Gen and the H3Africa Consortium. (2019) Kidney damage and associated risk factors in rural and urban sub-Saharan Africa (AWI-Gen): a cross-sectional population study. The Lancet Global Health. 7(12):e1632-e1643. doi: 1016/S2214-109X(19)30443-7. Impact factor: 15.873
  20. Ramsay M., Ngcungcu T. and Grayson W. (2019) Keratolytic Winter Erythema: An Update. Dermatopathology (Basel). 6(2):126-132. doi: 10.1159/000496338. Review.
  21. Genetics of Glaucoma in People of African Descent (GGLAD) Consortium, Hauser M.A., Allingham R.R., Aung T., Van Der Heide C.J., Taylor K.D., Rotter J.I., Wang S.J., Bonnemaijer P.W.M., Williams S.E., Abdullahi S.M., Abu-Amero K.K., Anderson M.G., Akafo S., Alhassan M.B., Asimadu I., Ayyagari R., Bakayoko S., Nyamsi P.B., Bowden D.W., Bromley W.C., Budenz D.L., Carmichael T.R., Challa P., Chen Y.I., Chuka-Okosa C.M., Cooke Bailey J.N., Costa V.P., Cruz D.A., DuBiner H., Ervin J.F., Feldman R.M., Flamme-Wiese M., Gaasterland D.E., Garnai S.J., Girkin C.A., Guirou N., Guo X., Haines J.L., Hammond C.J., Herndon L., Hoffmann T.J., Hulette C.M., Hydara A., Igo R.P. Jr, Jorgenson E., Kabwe J., Kilangalanga N.J., Kizor-Akaraiwe N., Kuchtey R.W., Lamari H., Li Z., Liebmann J.M., Liu Y., Loos R.J.F., Melo M.B., Moroi S.E., Msosa J.M., Mullins R.F., Nadkarni G., Napo A., Ng M.C.Y., Nunes H.F., Obeng-Nyarkoh E., Okeke A., Okeke S., Olaniyi O., Olawoye O., Oliveira M.B., Pasquale L.R., Perez-Grossmann R.A., Pericak-Vance M.A., Qin X., Ramsay M., Resnikoff S., Richards J.E., Schimiti R.B., Sim K.S., Sponsel W.E., Svidnicki P.V., Thiadens A.A.H.J., Uche N.J., van Duijn C.M., de Vasconcellos J.P.C., Wiggs J.L., Zangwill L.M., Risch N., Milea D., Ashaye A,. Klaver C.C.W., Weinreb R.N., Ashley Koch A.E., Fingert J.H. and Khor CC. (2019) Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry. 5:322(17):1682-1691. doi: 10.1001/jama.2019.16161 Impact factor: 51.3
  22. Govender M.A., Fabian J., Gottlich E., Levy C., Moonsamy G., Maher H., Winkler C.A. and Ramsay M. (2019) The podocin V260E mutation predicts steroid resistant nephrotic syndrome in black South African children with focal segmental glomerulosclerosis. Communications Biology. 2:416. doi: 1038/s42003-019-0658-1.
  23. Ramsay M., Brunner H.G. and Djikeng A. (2019) Leveraging genomic diversity to promote human and animal health. Communications Biology. 2:463. doi: 1038/s42003-019-0708-8.
  24. O'Neil D.S., Chen W.C., Ayeni O., Nietz S., Buccimazza I., Singh U., Čačala S., Stopforth L., Joffe M., Crew K.D., Jacobson J.S., Neugut A.I., Ruff P. and Cubasch H. (2019) Breast Cancer Care Quality in South Africa's Public Health System: An Evaluation Using American Society of Clinical Oncology/National Quality Forum Measures. Journal of Global Oncology., 5:1-16. doi: 1200/JGO.19.00171
  25. Ayeni O.A., Norris S.A., Joffe M., Cubasch H., Nietz S., Buccimazza I., Singh U., Čačala S., Stopforth L., Chen W.C., McCormack V.A., O'Neil D.S., Jacobson J.S., Neugut A.I., Ruff P. and Micklesfield L.K. (2019) The multimorbidity profile of South African women newly diagnosed with breast cancer. International Journal of Cancer. doi: 1002/ijc.32727 Impact factor: 7.360
  26. Harlemon M, Ajayi O, Kachambwa P, Kim MS, Simonti CN, Quiver MH, Petersen DC, Mittal A, Fernandez PW, Hsing AW, Baichoo S, Agalliu I, Jalloh M, Gueye SM, Snyper NYF, Adusei B, Mensah JE, Abrahams AOD, Adebiyi AO, Orunmuyi AT, Aisuodionoe-Shadrach OI, Nwegbu MM, Joffe M, Chen WC, Irusen H, Neugut AI, Quintana Y, Seutloali M, Fadipe MB, Warren C, Woehrmann MH, Zhang P, Ongaco CM, Mawhinney M, McBride J, Andrews CV, Adams M, Pugh E, Rebbeck TR, Petersen LN and Lachance J. (2019) A custom genotyping array reveals population-level heterogeneity for the genetic risks of prostate cancer and other cancers in Africa. CR. DOI: 10.1158/0008-5472.CAN-19-2165 (IF: 8.378, 2018)
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