Genetics in Medicine, 1098-3600

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  1. 2021
  2. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

    Chiara Klöckner, Johan Lundgren, Konrad Platzer & et al. et al., 2021, In: Genetics in Medicine. 23, 4, p. 653-660

    Research output: Contribution to journalArticle

  3. Treatment of ARS deficiencies with specific amino acids

    Gautam Kok, Laura Tseng, Imre F. Schene, Monique E. Dijsselhof, Gajja Salomons, Marisa I. Mendes, Desiree E.C. Smith, Arnaud Wiedemann, Marie Canton, François Feillet, Tom J. de Koning, Megan Boothe, Joy Dean, Rachel Kassel, Elise A. Ferreira, Margreet van den Born, Edward E.S. Nieuwenhuis, Holger Rehmann, Suzanne W.J. Terheggen-Lagro, Clara D.M. van Karnebeek & 1 others, Sabine A. Fuchs, 2021, (Accepted/In press) In: Genetics in Medicine.

    Research output: Contribution to journalArticle

  4. 2020
  5. Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

    Roddy Walsh, Najim Lahrouchi, Rafik Tadros, Florence Kyndt, Charlotte Glinge, Pieter G. Postema, Ahmad S. Amin, Eline A. Nannenberg, James S. Ware, Nicola Whiffin, Francesco Mazzarotto, Doris Škorić-Milosavljević, Christian Krijger, Elena Arbelo, Dominique Babuty, Hector Barajas-Martinez, Britt M. Beckmann, Stéphane Bézieau, J. Martijn Bos, Jeroen Breckpot & 31 others, Oscar Campuzano, Silvia Castelletti, Candan Celen, Sebastian Clauss, Anniek Corveleyn, Lia Crotti, Federica Dagradi, Carlo de Asmundis, Isabelle Denjoy, Sven Dittmann, Patrick T. Ellinor, Cristina Gil Ortuño, Carla Giustetto, Jean Baptiste Gourraud, Daisuke Hazeki, Minoru Horie, Taisuke Ishikawa, Hideki Itoh, Yoshiaki Kaneko, Jørgen K. Kanters, Hiroki Kimoto, Maria Christina Kotta, Ingrid P.C. Krapels, Masahiko Kurabayashi, Julieta Lazarte, Antoine Leenhardt, Bart L. Loeys, Catarina Lundin, Takeru Makiyama, Pyotr G. Platonov & Nantes Referral Center for inherited cardiac arrhythmia Nantes Referral Center for inherited cardiac arrhythmia, 2020 Sep 7, In: Genetics in Medicine.

    Research output: Contribution to journalArticle

  6. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

    Andrew D. Barnes, Åke Borg, A.C. Antoniou, GEMO Study Collaborators GEMO Study Collaborators, EMBRACE Collaborators EMBRACE Collaborators, KConFab Investigators KConFab Investigators, HEBON Investigators HEBON Investigators, GENEPSO Investigators GENEPSO Investigators & Consortium of Investigators of Modifiers of BRCA and BRCA2 Consortium of Investigators of Modifiers of BRCA and BRCA2, 2020, In: Genetics in Medicine. 22, 10, p. 1653-1666 14 p.

    Research output: Contribution to journalArticle

  7. 2019
  8. Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition

    Alisa Olkinuora, Taina T. Nieminen, Emma Mårtensson, Anna Rohlin, Ari Ristimäki, Laura Koskenvuo, Anna Lepistö, Samuel Gebre-Medhin, Margareta Nordling, Päivi Peltomäki & Swedish Extended Genetic Analysis of Colorectal Neoplasia (SWEN) Study Group 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

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

    Nisha Shah, Victoria Coathup, Harriet Teare, Ian Forgie, Giuseppe Nicola Giordano, Tue Haldor Hansen, Lenka Groeneveld, Michelle Hudson, Ewan Pearson, Hartmut Ruetten & Jane Kaye, 2019, In: Genetics in Medicine. 21, 5, p. 1131-1138

    Research output: Contribution to journalArticle

  10. 2018
  11. Phenocopies in melanoma-prone families with germ-line CDKN2A mutations

    Hildur Helgadottir, Håkan Olsson, Margaret A. Tucker, Xiaohong R. Yang, Veronica Höiom & Alisa M. Goldstein, 2018 Sep 1, In: Genetics in Medicine. 20, 9, p. 1087-1090 4 p.

    Research output: Contribution to journalArticle

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

    Luc Régal, Emma Mårtensson, Isabelle Maystadt, Nicol Voermans, Damien Lederer, Alberto Burlina, María Jesús Juan Fita, A. Jeannette M. Hoogeboom, Mia Olsson Engman, Tess Hollemans, Meyke Schouten, Sandra Meulemans, Tord Jonson, Inge François, David Gil Ortega, Erik Jan Kamsteeg & John W.M. Creemers, 2018 Jan 1, In: Genetics in Medicine. 20, 1, p. 109-118 10 p.

    Research output: Contribution to journalArticle

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

    Irene Catucci, Ana Osorio, Brita Arver, Guido Neidhardt, Massimo Bogliolo, Federica Zanardi, Mirko Riboni, Simone Minardi, Roser Pujol, Jacopo Azzollini, Bernard Peissel, Siranoush Manoukian, Giovanna De Vecchi, Stefano Casola, Jan Hauke, Lisa Richters, Kerstin Rhiem, Rita K Schmutzler, Karin Wallander, Therese Törngren & 8 others, Åke Borg, Paolo Radice, Jordi Surrallés, Eric Hahnen, Hans Ehrencrona, Anders Kvist, Javier Benitez & Paolo Peterlongo, 2018, In: Genetics in Medicine. 20, p. 452–457 6 p.

    Research output: Contribution to journalArticle

  14. 2016
  15. Neonates at risk of medium-chain acyl-CoA dehydrogenase deficiency: A perinatal protocol for use before population neonatal screening test results become available

    Willemijn J. Van Rijt, Emmalie A. Jager, Francjan J. Van Spronsen, Tom De Koning, M. Rebecca Heiner-Fokkema & Terry G.J. Derks, 2016 Dec 1, In: Genetics in Medicine. 18, 12, p. 1322-1323 2 p.

    Research output: Contribution to journalLetter

  16. 2009
  17. Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project.

    Richard G H Cotton, Aida I Al Aqeel, Fahd Al-Mulla, Paola Carrera, Mireille Claustres, Rosemary Ekong, Valentine J Hyland, Finlay A Macrae, Makia J Marafie, Mark H Paalman, George P Patrinos, Ming Qi, Rajkumar S Ramesar, Rodney J Scott, Rolf H Sijmons, María-Jesús Sobrido & Mauno Vihinen, 2009, In: Genetics in Medicine. 11, 12, p. 843-849

    Research output: Contribution to journalArticle

  18. 2008
  19. Assessing educational priorities in genetics for general practitioners and specialists in five countries: factor structure of the Genetic-Educational Priorities (Gen-EP) scale

    Jean-Marc Calefato, Irma Nippert, Hilary J. Harris, Ulf Kristoffersson, Jorg Schmidtke, Leo P. Ten Kate, Elizabeth Anionwu, Caroline Benjamin, Kirsty Challen, Anne-Marie Plass, Rodney Harris & Claire Julian-Reynier, 2008, In: Genetics in Medicine. 10, 2, p. 99-106

    Research output: Contribution to journalArticle

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

    Claire Julian-Reynier, Irma Nippert, Jean-Marc Calefato, Hilary Harris, Ulf Kristoffersson, Joerg Schmidtke, Leo Ten Kate, Elizabeth Anionwu, Caroline Benjamin, Kirsty Challen, Anne-Marie Plass & Rodney Harris, 2008, In: Genetics in Medicine. 10, 2, p. 107-113

    Research output: Contribution to journalArticle

  21. 2006
  22. 2005
  23. Genetic education and nongenetic health professionals: Educational providers and curricula in Europe.

    Kirsty Challen, Hilary Harris, Claire Julian-Reynier, Leo Ten Kate, Ulf Kristoffersson, Irmgard Nippert, Jörg Schmidtke, Caroline Benjamin & Rodney Harris, 2005, In: Genetics in Medicine. 7, 5, p. 302-310

    Research output: Contribution to journalArticle

  24. 2001
  25. Issues in Human GenEthics

    Jorge M. Saraiva, Elizabeth Anionwu, Maria Belo, Trefor Jenkins, Ulf Kristoffersson, Isabel Marques, Heloisa G. Santos, Jorge Sequerio, Sheila A. Simpson, Dorothy Wertz & Carolino Montenerio, 2001, In: Genetics in Medicine. 3, 3, p. 218

    Research output: Contribution to journalArticle