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Leman R, Gaildrat P, Le Gac G, et al. Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort. Nucleic Acids Res. 2020;48(3):1600-1601doi: 10.1093/nar/gkz1212.
Leman, R., Gaildrat, P., Le Gac, G., Ka, C., Fichou, Y., Audrezet, M. P., Caux-Moncoutier, V., Caputo, S. M., Boutry-Kryza, N., Léone, M., Mazoyer, S., Bonnet-Dorion, F., Sevenet, N., Guillaud-Bataille, M., Rouleau, E., Bressac-de Paillerets, B., Wappenschmidt, B., Rossing, M., Muller, D., Bourdon, V., Revillon, F., Parsons, M. T., Rousselin, A., Davy, G., Castelain, G., Castéra, L., Sokolowska, J., Coulet, F., Delnatte, C., Férec, C., Spurdle, A. B., Martins, A., Krieger, S., & Houdayer, C. (2020). Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort. Nucleic acids research, 48(3), 1600-1601. https://doi.org/10.1093/nar/gkz1212
Leman, Raphaël, et al. "Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort." Nucleic acids research vol. 48,3 (2020): 1600-1601. doi: https://doi.org/10.1093/nar/gkz1212
Leman R, Gaildrat P, Le Gac G, Ka C, Fichou Y, Audrezet MP, Caux-Moncoutier V, Caputo SM, Boutry-Kryza N, Léone M, Mazoyer S, Bonnet-Dorion F, Sevenet N, Guillaud-Bataille M, Rouleau E, Bressac-de Paillerets B, Wappenschmidt B, Rossing M, Muller D, Bourdon V, Revillon F, Parsons MT, Rousselin A, Davy G, Castelain G, Castéra L, Sokolowska J, Coulet F, Delnatte C, Férec C, Spurdle AB, Martins A, Krieger S, Houdayer C. Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort. Nucleic Acids Res. 2020 Feb 20;48(3):1600-1601. doi: 10.1093/nar/gkz1212. PMID: 31863589; PMCID: PMC7026662.
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Nucleic Acids Res. 2020 Feb 20;48(3):1600-1601. doi: 10.1093/nar/gkz1212.

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

Nucleic acids research

Raphaël Leman, Pascaline Gaildrat, Gérald Le Gac, Chandran Ka, Yann Fichou, Marie-Pierre Audrezet, Virginie Caux-Moncoutier, Sandrine M Caputo, Nadia Boutry-Kryza, Mélanie Léone, Sylvie Mazoyer, Françoise Bonnet-Dorion, Nicolas Sevenet, Marine Guillaud-Bataille, Etienne Rouleau, Brigitte Bressac-de Paillerets, Barbara Wappenschmidt, Maria Rossing, Danielle Muller, Violaine Bourdon, Françoise Revillon, Michael T Parsons, Antoine Rousselin, Grégoire Davy, Gaia Castelain, Laurent Castéra, Joanna Sokolowska, Florence Coulet, Capucine Delnatte, Claude Férec, Amanda B Spurdle, Alexandra Martins, Sophie Krieger, Claude Houdayer

Affiliations

  1. Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.
  2. Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
  3. Normandie Univ, UNICAEN, 14000 Caen, France.
  4. Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, 29200 Brest, France.
  5. Inserm U830, Institut Curie Centre de Recherches, 75005 Paris, France.
  6. Université Paris Descartes, Sorbonne Paris Cité, 75005 Paris, France.
  7. Service de Génétique, Institut Curie, 75005 Paris, France.
  8. Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon, 69000 Lyon, France.
  9. Lyon Neuroscience Research Center-CRNL, Inserm U1028, CNRS UMR 5292, University of Lyon, 69008 Lyon, France.
  10. Inserm U916, Département de Pathologie, Laboratoire de Génétique Constitutionnelle, Institut Bergonié, 33000 Bordeaux, France.
  11. Gustave Roussy, Université Paris-Saclay, Département de Biopathologie, 94805 Villejuif, France.
  12. Division of Molecular Gynaeco-Oncology, Department of Gynaecology and Obstetrics, University Hospital of Cologne, 50937 Cologne, Germany.
  13. Centre for Genomic Medicine, Rigshospitalet, University of Copenhagen, 1017 Copenhagen, Denmark.
  14. Laboratoire d'Oncogénétique, Centre Paul Strauss, 67000 Strasbourg, France.
  15. Laboratoire d'Oncogénétique Moléculaire, Institut Paoli-Calmettes, 13009 Marseille, France.
  16. Laboratoire d'Oncogénétique Moléculaire Humaine, Centre Oscar Lambret, 59000 Lille, France.
  17. Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, 4006 Herston, Queensland, Australia.
  18. Service de Génétique, CHU Nancy, 54035 Nancy, France.
  19. Service de génétique, Hôpital Pitié Salpétrière, AP-HP, 75013 Paris, France.
  20. Laboratoire de génétique moléculaire, CHU Nantes, 44000 Nantes, France.

PMID: 31863589 PMCID: PMC7026662 DOI: 10.1093/nar/gkz1212

[No abstract available.]

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