Published academic articles

Over the years we has published some of the important findings in our research. Click on the links below to access any of our publications currently available:

  • Bharadwaj, T., Acharya, A., Manyisa, N. R., Aboagye, E. T., Peigou Wonkam, R., Xhakaza, L., Popel, K., de Kock, C., Schrauwen, I., Wonkam, A., & Leal, S. M. (2025). The Diverse Genetic Landscape of Hearing Impairment in South African Families. Clinical genetics, 10.1111/cge.14765. Advance online publication. doi.org/10.1111/cge.14765  
  • Esoh, K., Yalcouyé, A., & Wonkam, A. (2025). Parasite-resistant variants in African genomes: implications for global genetic medicine. Trends in parasitology, S1471-4922(25)00139-4. Advance online publication. org/10.1016/j.pt.2025.05.007
  • Munung, N. S. (2025). Science and Society: Pathways to Equitable Access and Delivery of Genomics Medicine in Africa’. Current genetic medicine reports 13 (1):1, doi 10.1007/s40142-024-00211-0.
  • Munung, N. S., & Tangwa, G. B. (2025). ‘Eco-Bio-Communitarianism: Reimagining Bioethics for Sustainable Health’. BMC Global and Public Health 3 (1):13, doi 10.1186/s44263-025-00129-x.
  • Kamga, K. K., Marlyse, P. F., Nguefack, S., & Wonkam, A. (2025). Advancing genetic services in African healthcare: Challenges, opportunities, and strategic insights from a scoping review. HGG advances6(3), 100439. Advance online publication. doi.org/10.1016/j.xhgg.2025.100439
  • Pellen, C., Munung, N. S., Armond, A. C., Kulp, D., Mansmann, U., Siebert, M., and Naudet, F. (2025). ‘Data Management and Sharing’. Journal of Clinical Epidemiology 180:111680, doi.org/10.1016/j.jclinepi.2025.111680.
  • Twumasi Aboagye, E., Adadey, S. M., Alves de Souza Rios, L., Esoh, K. K., Wonkam-Tingang, E., Xhakaza, L., De Kock, C., Schrauwen, I., Amenga-Etego, L., Lang, D., Awandare, G. A., Leal, S. M., Mowla, S., & Wonkam, A. (2025). Bi-Allelic MARVELD2 Variant Identified with Exome Sequencing in a Consanguineous Multiplex Ghanaian Family Segregating Non-Syndromic Hearing Loss. International Journal of Molecular Sciences, 26(7), 3337. org/10.3390/ijms26073337
  • Uwibambe, E., Yalcouyé, A., Aboagye, E.T. et al. (2025) Exome sequencing revealed a novel homozygous variant in TRMT61 Ain a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda. BMC Med Genomics, 18, 85. org/10.1186/s12920-025-02153-0
  • Wonkam, A., Esoh, K., Levine, R. M., Ngo Bitoungui, V. J., Mnika, K., Nimmagadda, N., Dempsey, E. A. D., Nkya, S., Sangeda, R. Z., Nembaware, V., Morrice, J., Osman, F., Beer, M. A., Makani, J., Mulder, N., Lettre, G., Steinberg, M. H., Latanich, R., Casella, J. F., Drehmer, D., … Antonarakis, S. E. (2025). FLT1 and other candidate fetal haemoglobin modifying loci in sickle cell disease in African ancestries. Nature communications, 16(1), 2092. org/10.1038/s41467-025-57413-5
  • Van der Merwe, N., Sima, C. A. A. N., and Munung, N. S. (2025). ‘Clinical Translation of Genomics Research in Africa—Mainstreaming Medical Ethics, Equity, Genetics Education, and public engagement’. in Patrinos, G. P., Möller, M., and Uren, C. (eds.), Population Genomics in the Developing World. Academic Press: Elsevier. pp. 175-90.
  • Munung, N. S., Kamga, K. K., Treadwell, M. J., Dennis-Antwi, J., Anie, K. A., Bukini, D., Makani, J., and Wonkam, A. (2024). ‘Perceptions and preferences for genetic testing for sickle cell disease or trait: a qualitative study in Cameroon, Ghana and Tanzania’. Eur J Hum Genet doi: 10.1038/s41431-024-01553-7,
  • Munung, N. S., Nnodu, O. E., Moru, P. O., Kalu, A. A., Impouma, B., Treadwell, M. J., and Wonkam, A. (2024). ‘Looking ahead: ethical and social challenges of somatic gene therapy for sickle cell disease in Africa’. Gene Ther 31 (5-6):202-08, doi 10.1038/s41434-023-00429-7.
  • Munung, N. S., Royal, C. D., de Kock, C., Awandare, G., Nembaware, V., Nguefack, S., Treadwell, M., & Wonkam, A. (2024). Genomics and Health Data Governance in Africa: Democratize the Use of Big Data and Popularize Public Engagement. The Hastings Center report54 Suppl 2, S84–S92. doi.org/10.1002/hast.4933
  • Munung, N. S., Staunton, C., Mazibuko, O., Wall, P. J., & Wonkam, A. (2024). Data protection legislation in Africa and pathways for enhancing compliance in big data health research. Health research policy and systems, 22(1), 145. doi.org/10.1186/s12961-024-01230-7
  • Munung, N. S., Treadwell, M., Kamga, K. K., Dennis-Antwi, J., Anie, K., Bukini, D., Makani, J., & Wonkam, A. (2024). Caught between pity, explicit bias, and discrimination: a qualitative study on the impact of stigma on the quality of life of persons living with sickle cell disease in three African countries. Quality of life research: an international journal of quality of life aspects of treatment, care and rehabilitation, 33(2), 423–432. doi.org/10.1007/s11136-023-03533-8
  • Wonkam, A., Munung, N. S., Guindo, A., & Nnodu, O. (2024). Priorities for sickle cell disease global research and implementation. Lancet (London, England), 404(10465), 1790–1792. doi.org/10.1016/S0140-6736(24)01400-4
  • Aboagye, E. T., Adadey, S. M., Wonkam-Tingang, E., Amenga-Etego, L., Awandare, G. A., & Wonkam, A. (2023). Global Distribution of Founder Variants Associated with Non-Syndromic Hearing Impairment. Genes, 14(2), 399. org/10.3390/genes14020399
  • Dia, Y., Loum, B., Dieng, Y. J. K. B., Diop, J. P. D., Adadey, S. M., Aboagye, E. T., Ba, S. A., Touré, A. A., Niang, F., Diaga Sarr, P., Tidiane Ly, C. A., Sène, A. R. G., Kock, C., Bassier, R., Popel, K., Ndiaye Diallo, R., Wonkam, A., & Diallo, B. K. (2023). Childhood Hearing Impairment in Senegal. Genes, 14(3), 562. org/10.3390/genes14030562
  • Munung, N. S. (2023). “Ethnicity, Geographical Region and Ancestry as Population Level Descriptors for Genomics Studies in Africa: Public Engagement is Needed”. In Botrugno, C., Raymundo, M. & Re, L. (Eds). Bioethics and Racism: Practices, Conflicts, Negotiations and Struggles (p. 97-106). Berlin, Boston: De Gruyter.
  • 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. doi.org/10.1016/j.tig.2023.06.004
  • Wonkam A. (2023). The future of sickle cell disease therapeutics rests in genomics. Disease models & mechanisms, 16(2), dmm049765. doi.org/10.1242/dmm.049765
  • Adadey, S. M., Aboagye, E. T., Esoh, K., Acharya, A., Bharadwaj, T., Lin, N. S., Amenga-Etego, L., Awandare, G. A., Schrauwen, I., Leal, S. M., & Wonkam, A. (2022). A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana. BMC medical genomics, 15(1), 237. doi.org/10.1186/s12920-022-01391-w
  • Adadey, S. M., Wonkam-Tingang, E., Alves de Souza Rios, L., Aboagye, E. T., Esoh, K., Manyisa, N., De Kock, C., Awandare, G. A., Mowla, S., & Wonkam, A. (2022). Cell-based analysis of CLIC5A and SLC12A2 variants associated with hearing impairment in two African families. Frontiers in genetics, 13, 924904. org/10.3389/fgene.2022.924904
  • Dia, Y., Adadey, S. M., Diop, J. P. D., Aboagye, E. T., Ba, S. A., De Kock, C., Ly, C. A. T., Oluwale, O. G., Sène, A. R. G., Sarr, P. D., Diallo, B. K., Diallo, R. N., & Wonkam, A. (2022). GJB2 Is a Major Cause of Non-Syndromic Hearing Impairment in Senegal. Biology, 11(5), 795. org/10.3390/biology11050795
  • Munung, N.S., Nembaware, V., Osei-Tutu, L. et al. (2022) Assent, parental consent and reconsent for health research in Africa: thematic analysis of national guidelines and lessons from the SickleInAfrica registry. BMC Med Ethics 23, 130. doi.org/10.1186/s12910-022-00843-3
  • Wonkam, A., Adadey, S. M., Schrauwen, I., Aboagye, E. T., Wonkam-Tingang, E., Esoh, K., Popel, K., Manyisa, N., Jonas, M., deKock, C., Nembaware, V., Cornejo Sanchez, D. M., Bharadwaj, T., Nasir, A., Everard, J. L., Kadlubowska, M. K., Nouel-Saied, L. M., Acharya, A., Quaye, O., Amedofu, G. K., … Leal, S. M. (2022). Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes. Communications biology, 5(1), 369. org/10.1038/s42003-022-03326-8
  • Wonkam, A., Munung, N. S., Dandara, C., Esoh, K. K., Hanchard, N. A., & Landoure, G. (2022). Five Priorities of African Genomics Research: The Next Frontier. Annual review of genomics and human genetics, 23, 499–521. doi.org/10.1146/annurev-genom-111521-102452
  • Wonkam, A., Bardien, S., Diallo, R. N., Gaye, A., Alimohamed, M. Z., Kya, S., Makani, J., Landoure, G., Mutesa, L., El-Kamah, G., Mohamed, A., Newport, M., Williams, S. M., Ramsay, M., & Nembaware, V. (2022). “Black Lives Matter and Black Research Matters”: the African Society of Human Genetics’ call to halt racism in science. Molecular biology of the cell, 33(9), vo2. doi.org/10.1091/mbc.E22-04-0122
  • Wonkam, A., Munung, N. S., Dandara, C., Esoh, K. K., Hanchard, N. A., & Landoure, G. (2022). Five Priorities of African Genomics Research: The Next Frontier. Annual review of genomics and human genetics, 23, 499–521. doi.org/10.1146/annurev-genom-111521-102452
  • Yalcouyé, A., Diallo, S. H., Cissé, L., Karembé, M., Diallo, S., Coulibaly, T., Diarra, S., Coulibaly, D., Keita, M., Guinto, C. O., Fischbeck, K. H., Wonkam, A., Landouré, G., & H3Africa Consortium (2022). GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in Mali. Journal of the peripheral nervous system, 27(2), 113–119. org/10.1111/jns.12486
  • Yalcouyé, A., Traoré, O., Diarra, S., Schrauwen, I., Esoh, K., Kadlubowska, M. K., Bharadwaj, T., Adadey, S. M., Kéita, M., Guinto, C. O., Leal, S. M., Landouré, G., & Wonkam, A. (2022). A monoallelic variant in EYA1 is associated with Branchio-Otic syndrome in a Malian family. Molecular genetics & genomic medicine, 10(7), e1995. org/10.1002/mgg3.1995
  • Yalcouyé, A., Esoh, K., Guida, L., & Wonkam, A. (2022). Current profile of Charcot-Marie-Tooth disease in Africa: A systematic review. Journal of the peripheral nervous system: JPNS, 27(2), 100–112. org/10.1111/jns.12489
  • Adadey, S. M., Wonkam-Tingang, E., Aboagye, E. T., Quaye, O., Awandare, G. A., & Wonkam, A. (2022). Hearing loss in Africa: current genetic profile. Human genetics, 141(3-4), 505–517. org/10.1007/s00439-021-02376-y
  • Adadey, S. M., Schrauwen, I., Aboagye, E. T., Bharadwaj, T., Esoh, K. K., Basit, S., Acharya, A., Nouel-Saied, L. M., Liaqat, K., Wonkam-Tingang, E., Mowla, S., Awandare, G. A., Ahmad, W., Leal, S. M., & Wonkam, A. (2021). Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment. Journal of human genetics, 66(12), 1169–1175. org/10.1038/s10038-021-00954-6
  • Kengne Kamga, K., De Vries, J., Nguefack, S., Munung, N. S., & Wonkam, A. (2021). Explanatory models for the cause of Fragile X Syndrome in rural Cameroon. Journal of genetic counseling, 30(6), 1727–1736. org/10.1002/jgc4.1440
  • Kengne Kamga, K., Munung, N. S., Nguefack, S., Wonkam, A., & De Vries, J. (2021). Negotiating political power and stigma around fragile X Syndrome in a rural village in Cameroon: A tale of a royal family and a community. Molecular genetics & genomic medicine, 9(3), e1615. org/10.1002/mgg3.1615
  • Kengne Kamga, K., Nguefack, S., Minka, K., Wonkam Tingang, E., Esterhuizen, A., Nchangwi Munung, S., De Vries, J., & Wonkam, A. (2020). Cascade Testing for Fragile X Syndrome in a Rural Setting in Cameroon (Sub-Saharan Africa). Genes, 11(2), 136. org/10.3390/genes11020136
  • Manyisa, N., Adadey, S. M., Wonkam-Tingang, E., Yalcouye, A., & Wonkam, A. (2022). Hearing Impairment in South Africa and the Lessons Learned for Planetary Health Genomics: A Systematic Review. Omics: a journal of integrative biology, 26(1), 2–18. org/10.1089/omi.2021.0181
  • Manyisa, N., Schrauwen, I., de Souza Rios, L. A., Mowla, S., Tekendo-Ngongang, C., Popel, K., Esoh, K., Bharadwaj, T., Nouel-Saied, L. M., Acharya, A., Nasir, A., Wonkam-Tingang, E., Kock, C., Dandara, C., Leal, S. M., & Wonkam, A. (2021). A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family. Genes, 12(11), 1765. org/10.3390/genes12111765
  • Oluwole, O. G., Esoh, K. K., Wonkam-Tingang, E., Manyisa, N., Noubiap, J. J., Chimusa, E. R., & Wonkam, A. (2021). Whole exome sequencing identifies rare coding variants in novel human-mouse ortholog genes in African individuals diagnosed with non-syndromic hearing impairment. Experimental biology and medicine, 246(2), 197–206. org/10.1177/1535370220960388
  • Oluwole, O. G., James, K., Yalcouye, A., & Wonkam, A. (2021). Hearing loss and brain disorders: A review of multiple pathologies. Open medicine, 17(1), 61–69. org/10.1515/med-2021-0402
  • Wonkam A. (2021). Sequence three million genomes across Africa. Nature, 590(7845), 209–211. org/10.1038/d41586-021-00313-7
  • Wonkam, A., Lebeko, K., Mowla, S., Noubiap, J. J., Chong, M., & Pare, G. (2021). Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon. Molecular genetics & genomic medicine, 9(3), e1609. org/10.1002/mgg3.1609
  • Wonkam, A., Manyisa, N., Bope, C. D., Dandara, C., & Chimusa, E. R. (2021). Whole exome sequencing reveals pathogenic variants in MYO3A, MYO15A and COL9A3 and differential frequencies in ancestral alleles in hearing impairment genes among individuals from Cameroon. Human molecular genetics, 29(23), 3729–3743. org/10.1093/hmg/ddaa225
  • Wonkam-Tingang E, Kengne Kamga K, Adadey SM, Nguefack S, De Kock C, Munung NS and Wonkam A (2021) Knowledge and Challenges Associated With Hearing Impairment in Affected Individuals From Cameroon (Sub-Saharan Africa). Rehabilit. Sci. 2:726761. doi: 10.3389/fresc.2021.726761
  • Wonkam-Tingang, E., Schrauwen, I., Esoh, K. K., Bharadwaj, T., Nouel-Saied, L. M., Acharya, A., Nasir, A., Leal, S. M., & Wonkam, A. (2021). A novel variant in DMXL2 gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family. Experimental biology and medicine, 246(13), 1524–1532. org/10.1177/1535370221999746
  • Yalcouyé, A., Traoré, O., Taméga, A., Maïga, A. B., Kané, F., Oluwole, O. G., Guinto, C. O., Kéita, M., Timbo, S. K., DeKock, C., Landouré, G., & Wonkam, A. (2021). Etiologies of Childhood Hearing Impairment in Schools for the Deaf in Mali. Frontiers in pediatrics, 9, 726776. org/10.3389/fped.2021.726776

2020

  • Adadey, S. M., Esoh, K. K., Quaye, O., Amedofu, G. K., Awandare, G. A., & Wonkam, A. (2020). GJB4 and GJC3 variants in non-syndromic hearing impairment in Ghana. Experimental biology and medicine, 245(15), 1355–1367. org/10.1177/1535370220931035
  • Adadey, S. M., Tingang Wonkam, E., Twumasi Aboagye, E., Quansah, D., Asante-Poku, A., Quaye, O., Amedofu, G. K., Awandare, G. A., & Wonkam, A. (2020). Enhancing Genetic Medicine: Rapid and Cost-Effective Molecular Diagnosis for a GJB2 Founder Mutation for Hearing Impairment in Ghana. Genes, 11(2), 132. org/10.3390/genes11020132
  • Adadey, S. M., Quaye, O., Amedofu, G. K., Awandare, G. A., & Wonkam, A. (2020). Screening for GJB2-R143W-Associated Hearing Impairment: Implications for Health Policy and Practice in Ghana. Public health genomics, 23(5-6), 184–189. org/10.1159/000512121
  • Adadey, S. M., Tingang Wonkam, E., Twumasi Aboagye, E., Quansah, D., Asante-Poku, A., Quaye, O., Amedofu, G. K., Awandare, G. A., & Wonkam, A. (2020). Enhancing Genetic Medicine: Rapid and Cost-Effective Molecular Diagnosis for a GJB2 Founder Mutation for Hearing Impairment in Ghana. Genes, 11(2), 132. org/10.3390/genes11020132
  • Adadey, S. M., Wonkam-Tingang, E., Twumasi Aboagye, E., Nayo-Gyan, D. W., Boatemaa Ansong, M., Quaye, O., Awandare, G. A., & Wonkam, A. (2020). Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden. Life, 10(11), 258. org/10.3390/life10110258
  • Kamga, K. K., De Vries, J., Nguefack, S., Munung, S. N., & Wonkam, A. (2020). Lived Experiences of Fragile X Syndrome Caregivers: A Scoping Review of Qualitative Studies. Frontiers in neurology, 11, 128. org/10.3389/fneur.2020.00128
  • McGuire, A. L., Gabriel, S., Tishkoff, S. A., Wonkam, A., Chakravarti, A., Furlong, E. E. M., Treutlein, B., Meissner, A., Chang, H. Y., López-Bigas, N., Segal, E., & Kim, J. S. (2020). The road ahead in genetics and genomics. Nature reviews. Genetics, 21(10), 581–596. org/10.1038/s41576-020-0272-6
  • Tekendo-Ngongang, C., Dahoun, S., Nguefack, S., Moix, I., Gimelli, S., Zambo, H., Morris, M. A., Sloan-Béna, F., & Wonkam, A. (2020). MECP2 duplication syndrome in a patient from Cameroon. American journal of medical genetics. Part A, 182(4), 619–622. org/10.1002/ajmg.a.61510
  • Wonkam Tingang, E., Noubiap, J. J., F Fokouo, J. V., Oluwole, O. G., Nguefack, S., Chimusa, E. R., & Wonkam, A. (2020). Hearing Impairment Overview in Africa: the Case of Cameroon. Genes, 11(2), 233. org/10.3390/genes11020233
  • Wonkam-Tingang, E., Nguefack, S., Esterhuizen, A. I., Chelo, D., & Wonkam, A. (2020). DMD-related muscular dystrophy in Cameroon: Clinical and genetic profiles. Molecular genetics & genomic medicine, 8(8), e1362. org/10.1002/mgg3.1362
  • Wonkam-Tingang, E., Schrauwen, I., Esoh, K. K., Bharadwaj, T., Nouel-Saied, L. M., Acharya, A., Nasir, A., Adadey, S. M., Mowla, S., Leal, S. M., & Wonkam, A. (2020). Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment. Genes, 11(11), 1249. org/10.3390/genes11111249

2019

  • Adadey, S. M., Manyisa, N., Mnika, K., de Kock, C., Nembaware, V., Quaye, O., Amedofu, G. K., Awandare, G. A., & Wonkam, A. (2019). GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana. Frontiers in genetics, 10, 841. org/10.3389/fgene.2019.00841
  • Gardiner, S. A., Laing, N., Mall, S., & Wonkam, A. (2019). Perceptions of parents of children with hearing loss of genetic origin in South Africa. Journal of community genetics, 10(3), 325–333. org/10.1007/s12687-018-0396-y
  • Hotchkiss, J., Manyisa, N., Adadey, S. M., Oluwole, O. G., Wonkam, E., Mnika, K., Yalcouye, A., Nembaware, V., Haendel, M., Vasilevsky, N., Mulder, N. J., Jupp, S., Wonkam, A., & Mazandu, G. K. (2019). The Hearing Impairment Ontology: A Tool for Unifying Hearing Impairment Knowledge to Enhance Collaborative Research. Genes, 10(12), 960. org/10.3390/genes10120960
  • Tingang Wonkam, E., Chimusa, E., Noubiap, J. J., Adadey, S. M., F Fokouo, J. V., & Wonkam, A. (2019). GJB2 and GJB6 Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon. Genes, 10(11), 844. org/10.3390/genes10110844

2017

  • Adadey, S. M., Awandare, G., Amedofu, G. K., & Wonkam, A. (2017). Public Health Burden of Hearing Impairment and the Promise of Genomics and Environmental Research: A Case Study in Ghana, Africa. Omics: a journal of integrative biology, 21(11), 638–646. org/10.1089/omi.2017.0145
  • Lebeko, K., Manyisa, N., Chimusa, E. R., Mulder, N., Dandara, C., & Wonkam, A. (2017). A Genomic and Protein-Protein Interaction Analyses of Nonsyndromic Hearing Impairment in Cameroon Using Targeted Genomic Enrichment and Massively Parallel Sequencing. Omics: a journal of integrative biology, 21(2), 90–99. org/10.1089/omi.2016.0171