Uwibambe, E., Yalcouyé, A., Aboagye, E. T., Xhakaza, L., Popel, K., Dukuze, N., Bharadwaj, T., de Kock, C., Schrauwen, I., Leal, S. M., Mutesa, L., & Wonkam, A. (2025). Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda. BMC Medical Genomics, 18(1). https://doi.org/10.1186/s12920-025-02153-0
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