Genetics in Medicine, 1098-3600

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  1. 2019
  2. Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition

    Olkinuora, A., Nieminen, T. T., Mårtensson, E., Rohlin, A., Ristimäki, A., Koskenvuo, L., Lepistö, A., Samuel Gebre-Medhin, Nordling, M., Peltomäki, P. & Swedish Extended Genetic Analysis of Colorectal Neoplasia (SWEN) Study Group, 2019, In : Genetics in Medicine. 21, 8, p. 1868-1873

    Research output: Contribution to journalArticle

  3. Sharing data for future research—engaging participants’ views about data governance beyond the original project: a DIRECT Study

    Shah, N., Coathup, V., Teare, H., Forgie, I., Giuseppe Nicola Giordano, Hansen, T. H., Groeneveld, L., Hudson, M., Pearson, E., Ruetten, H. & Kaye, J., 2019, In : Genetics in Medicine. 21, 5, p. 1131-1138

    Research output: Contribution to journalArticle

  4. 2018
  5. Phenocopies in melanoma-prone families with germ-line CDKN2A mutations

    Helgadottir, H., Håkan Olsson, Tucker, M. A., Yang, X. R., Höiom, V. & Goldstein, A. M., 2018 Sep 1, In : Genetics in Medicine. 20, 9, p. 1087-1090 4 p.

    Research output: Contribution to journalArticle

  6. PREPL deficiency: Delineation of the phenotype and development of a functional blood assay

    Régal, L., Mårtensson, E., Maystadt, I., Voermans, N., Lederer, D., Burlina, A., Juan Fita, M. J., Hoogeboom, A. J. M., Olsson Engman, M., Hollemans, T., Schouten, M., Meulemans, S., Tord Jonson, François, I., Gil Ortega, D., Kamsteeg, E. J. & Creemers, J. W. M., 2018 Jan 1, In : Genetics in Medicine. 20, 1, p. 109-118 10 p.

    Research output: Contribution to journalArticle

  7. Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility

    Catucci, I., Osorio, A., Arver, B., Neidhardt, G., Bogliolo, M., Zanardi, F., Riboni, M., Minardi, S., Pujol, R., Azzollini, J., Peissel, B., Manoukian, S., De Vecchi, G., Casola, S., Hauke, J., Richters, L., Rhiem, K., Schmutzler, R. K., Wallander, K., Törngren, T. & 8 others, Åke Borg, Radice, P., Surrallés, J., Hahnen, E., Hans Ehrencrona, Anders Kvist, Benitez, J. & Peterlongo, P., 2018, In : Genetics in Medicine. 20, p. 452–457 6 p.

    Research output: Contribution to journalArticle

  8. 2016
  9. Neonates at risk of medium-chain acyl-CoA dehydrogenase deficiency: A perinatal protocol for use before population neonatal screening test results become available

    Van Rijt, W. J., Jager, E. A., Van Spronsen, F. J., Tom De Koning, Heiner-Fokkema, M. R. & Derks, T. G. J., 2016 Dec 1, In : Genetics in Medicine. 18, 12, p. 1322-1323 2 p.

    Research output: Contribution to journalLetter

  10. 2009
  11. Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project.

    Cotton, R. G. H., Al Aqeel, A. I., Al-Mulla, F., Carrera, P., Claustres, M., Ekong, R., Hyland, V. J., Macrae, F. A., Marafie, M. J., Paalman, M. H., Patrinos, G. P., Qi, M., Ramesar, R. S., Scott, R. J., Sijmons, R. H., Sobrido, M-J. & Mauno Vihinen, 2009, In : Genetics in Medicine. 11, 12, p. 843-849

    Research output: Contribution to journalArticle

  12. 2008
  13. Assessing educational priorities in genetics for general practitioners and specialists in five countries: factor structure of the Genetic-Educational Priorities (Gen-EP) scale

    Calefato, J-M., Nippert, I., Harris, H. J., Ulf Kristoffersson, Schmidtke, J., Ten Kate, L. P., Anionwu, E., Benjamin, C., Challen, K., Plass, A-M., Harris, R. & Julian-Reynier, C., 2008, In : Genetics in Medicine. 10, 2, p. 99-106

    Research output: Contribution to journalArticle

  14. Genetics in clinical practice: general practitioners' educational priorities in European countries

    Julian-Reynier, C., Nippert, I., Calefato, J-M., Harris, H., Ulf Kristoffersson, Schmidtke, J., Ten Kate, L., Anionwu, E., Benjamin, C., Challen, K., Plass, A-M. & Harris, R., 2008, In : Genetics in Medicine. 10, 2, p. 107-113

    Research output: Contribution to journalArticle

  15. 2006
  16. 2005
  17. Genetic education and nongenetic health professionals: Educational providers and curricula in Europe.

    Challen, K., Harris, H., Julian-Reynier, C., Ten Kate, L., Ulf Kristoffersson, Nippert, I., Schmidtke, J., Benjamin, C. & Harris, R., 2005, In : Genetics in Medicine. 7, 5, p. 302-310

    Research output: Contribution to journalArticle

  18. 2001
  19. Issues in Human GenEthics

    Saraiva, J. M., Anionwu, E., Belo, M., Jenkins, T., Ulf Kristoffersson, Marques, I., Santos, H. G., Sequerio, J., Simpson, S. A., Wertz, D. & Montenerio, C., 2001, In : Genetics in Medicine. 3, 3, p. 218

    Research output: Contribution to journalArticle