Human Genetics
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Højland, A. T., Tavernier, L. J. M., Schrauwen, I., Sommen, M., Topsakal, V., Schatteman, I., Dhooge, I., Huber, A., Zanetti, D., Kunst, H. P. M., Hoischen, A., Petersen, M. B., Van Camp, G., & Fransen, E. (2021). A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis. Human Genetics, 141(3–4), 951–963. https://doi.org/10.1007/s00439-021-02334-8
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Kreienkamp, H.-J., Wagner, M., Weigand, H., McConkie-Rossell, A., McDonald, M., Keren, B., Mignot, C., Gauthier, J., Soucy, J.-F., Michaud, J. L., Dumas, M., Smith, R., Löbel, U., Hempel, M., Kubisch, C., Denecke, J., Campeau, P. M., Bain, J. M., & Lessel, D. (2021). Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males. Human Genetics, 141(2), 257–272. https://doi.org/10.1007/s00439-021-02412-x
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Longchamps, R. J., Yang, S. Y., Castellani, C. A., Shi, W., Lane, J., Grove, M. L., Bartz, T. M., Sarnowski, C., Liu, C., Burrows, K., Guyatt, A. L., Gaunt, T. R., Kacprowski, T., Yang, J., De Jager, P. L., Yu, L., Bergman, A., Xia, R., Fornage, M., … Arking, D. E. (2021). Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation. Human Genetics, 141(1), 127–146. https://doi.org/10.1007/s00439-021-02394-w
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Coursimault, J., Guerrot, A.-M., Morrow, M. M., Schramm, C., Zamora, F. M., Shanmugham, A., Liu, S., Zou, F., Bilan, F., Le Guyader, G., Bruel, A.-L., Denommé-Pichon, A.-S., Faivre, L., Tran Mau-Them, F., Tessarech, M., Colin, E., El Chehadeh, S., Gérard, B., Schaefer, E., … Lecoquierre, F. (2021). MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects. Human Genetics, 141(1), 65–80. https://doi.org/10.1007/s00439-021-02383-z
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