Human Mutation

Displaying 1 - 6 of 6
Perrier, S., Macintosh, J., Misiaszek, A. D., Lambert, G., Guerrero, K., Tran, L. T., Müller, C. W., Pastinen, T., Maegawa, G. H. B., Thiffault, I., & Bernard, G. (2024). Novel Pathogenic Variants in POLR3K Cause POLR3‐Related Leukodystrophy. Human Mutation, 2024(1). Portico. https://doi.org/10.1155/2024/8807171
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Zanti, M., O’Mahony, D. G., Parsons, M. T., Li, H., Dennis, J., Aittomäkkiki, K., Andrulis, I. L., Anton-Culver, H., Aronson, K. J., Augustinsson, A., Becher, H., Bojesen, S. E., Bolla, M. K., Brenner, H., Brown, M. A., Buys, S. S., Canzian, F., Caputo, S. M., Castelao, J. E., … Michailidou, K. (2023). A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants: Application to BRCA1 and BRCA2. Human Mutation, 2023, 1–17. https://doi.org/10.1155/2023/9961341
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Cornelis, S. S., Bauwens, M., Haer-Wigman, L., De Bruyne, M., Pantrangi, M., De Baere, E., Hufnagel, R. B., Dhaenens, C.-M., & Cremers, F. P. M. (2023). Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework. Human Mutation, 2023, 1–12. https://doi.org/10.1155/2023/6815504
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Solaki, M., Baumann, B., Reuter, P., Andreasson, S., Audo, I., Ayuso, C., Balousha, G., Benedicenti, F., Birch, D., Bitoun, P., Blain, D., Bocquet, B., Branham, K., Català‐Mora, J., De Baere, E., Dollfus, H., Falana, M., Giorda, R., Golovleva, I., … Kohl, S. (2022). Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia. Human Mutation, 43(7), 832–858. Portico. https://doi.org/10.1002/humu.24371
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Waldrop, M. A., Moore, S. A., Mathews, K. D., Darbro, B. W., Medne, L., Finkel, R., Connolly, A. M., Crawford, T. O., Drachman, D., Wein, N., Habib, A. A., Krzesniak‐Swinarska, M. A., Zaidman, C. M., Collins, J. J., Jokela, M., Udd, B., Day, J. W., Ortiz‐Guerrero, G., Statland, J., … Flanigan, K. M. (2022). Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy. Human Mutation, 43(4), 511–528. Portico. https://doi.org/10.1002/humu.24343
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Kumble, S., Levy, A. M., Punetha, J., Gao, H., Ah Mew, N., Anyane‐Yeboa, K., Benke, P. J., Berger, S. M., Bjerglund, L., Campos‐Xavier, B., Ciliberto, M., Cohen, J. S., Comi, A. M., Curry, C., Damaj, L., Denommé‐Pichon, A., Emrick, L., Faivre, L., Fasano, M. B., … Tümer, Z. (2021). The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Human Mutation, 43(2), 266–282. Portico. https://doi.org/10.1002/humu.24308
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