BMC Medical Genomics
Displaying 1 - 6 of 6
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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Columbia Affiliation
Sattar, S., Bharadwaj, T., Kalsoom, U.-, Acharya, A., Khan, S., Leal, S. M., & Schrauwen, I. (2025). A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa. BMC Medical Genomics, 18(1). https://doi.org/10.1186/s12920-024-02077-1
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Columbia Affiliation
Bharadwaj, T., Acharya, A., Khan, F. U., Khan, S., Ullah, I., Schrauwen, I., Ahmad, W., & Leal, S. M. (2024). THBS1 is a new autosomal recessive non-syndromic hearing impairment gene. BMC Medical Genomics, 17(1). https://doi.org/10.1186/s12920-024-02060-w
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Columbia Affiliation
Wani, A. H., Katrinli, S., Zhao, X., Daskalakis, N. P., Zannas, A. S., Aiello, A. E., Baker, D. G., Boks, M. P., Brick, L. A., Chen, C.-Y., Dalvie, S., Fortier, C., Geuze, E., Hayes, J. P., Kessler, R. C., King, A. P., Koen, N., Liberzon, I., Lori, A., … Uddin, M. (2024). Blood-based DNA methylation and exposure risk scores predict PTSD with high accuracy in military and civilian cohorts. BMC Medical Genomics, 17(1). https://doi.org/10.1186/s12920-024-02002-6
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Wang, E. H.-H., Lin, P.-H., Wu, P.-L., Kang, E. Y.-C., Liu, L., Yeh, L.-K., Chen, K.-J., Hsiao, M.-C., & Wang, N.-K. (2024). Genetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29. BMC Medical Genomics, 17(1). https://doi.org/10.1186/s12920-024-01850-6
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Columbia Affiliation
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). https://doi.org/10.1186/s12920-022-01391-w
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Columbia Affiliation