Journal of Medical Genetics

Displaying 1 - 10 of 10
Martin, B. E., Sands, T., Bier, L., Bergner, A., Boehme, A. K., & Lippa, N. (2024). Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort. Journal of Medical Genetics, 61(7), 645–651. https://doi.org/10.1136/jmg-2023-109450
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Levi, H., Carmi, S., Rosset, S., Yerushalmi, R., Zick, A., Yablonski-Peretz, T., Wang, Q., Bolla, M. K., Dennis, J., Michailidou, K., Lush, M., Ahearn, T., Andrulis, I. L., Anton-Culver, H., Antoniou, A. C., Arndt, V., Augustinsson, A., Auvinen, P., … Beane Freeman, L. (2023). Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel. Journal of Medical Genetics, 60(12), 1186–1197. https://doi.org/10.1136/jmg-2023-109185
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de Sainte Agathe, J.-M., Pode-Shakked, B., Naudion, S., Michaud, V., Arveiler, B., Fergelot, P., Delmas, J., Keren, B., Poirsier, C., Alkuraya, F. S., Tabarki, B., Bend, E., Davis, K., Bebin, M., Thompson, M. L., Bryant, E. M., Wagner, M., Hannibal, I., Lenberg, J., … Trimouille, A. (2023). ARF1-related disorder: phenotypic and molecular spectrum. Journal of Medical Genetics, 60(10), 999–1005. https://doi.org/10.1136/jmg-2022-108803
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Oyama, N., Vaneynde, P., Reynhout, S., Pao, E. M., Timms, A., Fan, X., Foss, K., Derua, R., Janssens, V., Chung, W., & Mirzaa, G. M. (2022). Clinical, neuroimaging and molecular characteristics ofPPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype–phenotype analysis. Journal of Medical Genetics, 60(5), 511–522. https://doi.org/10.1136/jmg-2022-108713
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Sena, C., Iannello, G., Skowronski, A. A., Dannheim, K., Cheung, L., Agrawal, P. B., Hirschhorn, J. N., Zeitler, P., LeDuc, C. A., Stratigopoulos, G., & Thaker, V. V. (2022). Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms. Journal of Medical Genetics, 59(12), 1171–1178. https://doi.org/10.1136/jmedgenet-2022-108490
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Machado, R. D., Welch, C. L., Haimel, M., Bleda, M., Colglazier, E., Coulson, J. D., Debeljak, M., Ekstein, J., Fineman, J. R., Golden, W. C., Griffin, E. L., Hadinnapola, C., Harris, M. A., Hirsch, Y., Hoover-Fong, J. E., Nogee, L., Romer, L. H., Vesel, S., … Chung, W. K. (2021). Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality. Journal of Medical Genetics, 59(9), 906–911. https://doi.org/10.1136/jmedgenet-2021-107831
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Acharya, A., Kavus, H., Dunn, P., Nasir, A., Folk, L., Withrow, K., Wentzensen, I. M., Ruzhnikov, M. R. Z., Fallot, C., Smol, T., Rama, M., Brown, K., Whalen, S., Ziegler, A., Barth, M., Chassevent, A., Smith-Hicks, C., Afenjar, A., Courtin, T., … Schrauwen, I. (2021). Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders. Journal of Medical Genetics, 59(7), 669–677. https://doi.org/10.1136/jmedgenet-2021-107871
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Kahen, A., Kavus, H., Geltzeiler, A., Kentros, C., Taylor, C., Brooks, E., Green Snyder, L., & Chung, W. (2021). Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1. Journal of Medical Genetics, 59(6), 536–543. https://doi.org/10.1136/jmedgenet-2021-107694
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Xie, Z., Sun, C., Liu, Y., Yu, M., Zheng, Y., Meng, L., Wang, G., Cornejo-Sanchez, D. M., Bharadwaj, T., Yan, J., Zhang, L., Pineda-Trujillo, N., Zhang, W., Leal, S. M., Schrauwen, I., Wang, Z., & Yuan, Y. (2020). Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era. Journal of Medical Genetics, 58(11), 743–751. https://doi.org/10.1136/jmedgenet-2020-107113
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Al-deri, N., Okur, V., Ahimaz, P., Milev, M., Valivullah, Z., Hagen, J., Sheng, Y., Chung, W., Sacher, M., & Ganapathi, M. (2020). A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function. Journal of Medical Genetics, 58(9), 592–601. https://doi.org/10.1136/jmedgenet-2020-107016
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