Genetics in Medicine, 1098-3600

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Related Publications
  1. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

    Undiagnosed Diseases Network, Care4Rare Canada Consortium, Castilla-Vallmanya, L., Selmer, K. K., Dimartino, C., Rabionet, R., Blanco-Sánchez, B., Yang, S., Reijnders, M. R. F., van Essen, A. J., Oufadem, M., Vigeland, M. D., Stadheim, B., Houge, G., Cox, H., Kingston, H., Clayton-Smith, J., Innis, J. W., Iascone, M., Cereda, A., Gabbiadini, S., Chung, W. K., Sanders, V., Charrow, J., Bryant, E., Millichap, J., Vitobello, A., Thauvin, C., Mau-Them, F. T., Faivre, L., Lesca, G., Labalme, A., Rougeot, C., Chatron, N., Sanlaville, D., Christensen, K. M., Kirby, A., Lewandowski, R., Gannaway, R., Aly, M., Lehman, A., Clarke, L., Graul-Neumann, L., Zweier, C., Lessel, D., Lozic, B., Aukrust, I., Peretz, R., Stratton, R., Smol, T., Dieux-Coëslier, A., Meira, J., Wohler, E., Sobreira, N. L., Beaver, E. M., Heeley, J. M., Briere, L. C., High, F. A., Sweetser, D. A., Walker, M. A., Keegan, C. E., Jayaker, P., Shinawi, M., Kerstjens, M., Earl, D. L., Siu, V. M., Reesor, E., Yao, T., Hegele, R. A., Vaske, O. M., Rego, S., Shapiro, K. A., Wong, B., Gambello, M. J., McDonald, M. T., Karlowicz, D., Colombo, R., Serretti, A., Pais, L., O’Donnell-Luria, A., Wray, A., Sadedin, S., Chong, B., Tan, T. Y., Christodoulou, J., White, S. M., Slavotinek, A., Barbouth, D., Morel Swols, D., Parisot, M., Bole-Feysot, C., Nitschke, P., Pingault, V., Munnich, A., Cho, M. T., Cormier-Daire, V., Balcells, S., Lyonnet, S., Grinberg, D., Amiel, J., Urreizti, R. & Gordon, C. T., 2020, In : Genetics in Medicine. 12 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

    Dominguez-Valentin, M., Sampson, J. R., Seppala, T. T., ten Broeke, S. W., Plazzer, J-P., Nakken, S., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., Hovig, E., de Vos Tot Nederveen Cappel, W. H., Sijmons, R. H., Bertario, L., Tibiletti, M. G., Cavestro, G. M., Lindblom, A., Della Valle, A., Lopez-Kostner, F., Gluck, N., Katz, L. H., Heinimann, K., Vaccaro, C. A., Buettner, R., Goergens, H., Holinski-Feder, E., Morak, M., Holzapfel, S., Hueneburg, R., von Knebel Doeberitz, M., Loeffler, M., Rahner, N., Schackert, H. K., Steinke-Lange, V., Schmiegel, W., Vangala, D., Pylvanainen, K., Renkonen-Sinisalo, L., Hopper, J. L., Win, A. K., Haile, R. W., Lindor, N. M. & Gallinger, S., Jan-2020, In : Genetics in Medicine. 22, 1, p. 15-25 11 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. A clinical scoring system for congenital contractural arachnodactyly

    Meerschaut, I., De Coninck, S., Steyaert, W., Barnicoat, A., Bayat, A., Benedicenti, F., Berland, S., Blair, E. M., Breckpot, J., De Burca, A., Destree, A., Garcia-Minaur, S., Green, A. J., Hanna, B. C., Keymolen, K., Koopmans, M., Lederer, D., Lees, M., Longman, C., Lynch, S. A., Male, A. M., McKenzie, F., Migeotte, I., Mihci, E., Nur, B., Petit, F., Piard, J., Plasschaert, F. S., Rauch, A., Ribai, P., Pacheco, I. S., Stanzial, F., Stolte-Dijkstra, I., Valenzuela, I., Varghese, V., Vasudevan, P. C., Wakeling, E., Wallgren-Pettersson, C., Coucke, P., De Paepe, A., De Wolf, D., Symoens, S. & Callewaert, B., Jan-2020, In : Genetics in Medicine. 22, 1, p. 124-131 8 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

    van Rijt, W. J., Jager, E. A., Allersma, D. P., Aktuğlu Zeybek, A. Ç., Bhattacharya, K., Debray, F-G., Ellaway, C. J., Gautschi, M., Geraghty, M. T., Gil-Ortega, D., Larson, A. A., Moore, F., Morava, E., Morris, A. A., Oishi, K., Schiff, M., Scholl-Bürgi, S., Tchan, M. C., Vockley, J., Witters, P., Wortmann, S. B., van Spronsen, F., Van Hove, J. L. K. & Derks, T. G. J., 6-Jan-2020, In : Genetics in Medicine. 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

    DDD Study, Dec-2019, In : Genetics in Medicine. 21, 12, p. 2723-2733 11 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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