Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Bryony Thompson Amanda Spurdle 1 John-Paul Plazzer Marc Greenblatt Kiwamu Akagi Fahd Al-Mulla 2 Bharati Bapat Inge Bernstein 3 Gabriel Capellà 4 Johan den Dunnen 5 Desiree Du Sart Aurélie Fabre 6 Michael Farrell Susan Farrington Ian Frayling 7 Thierry Frebourg 8, 9 David Goldgar 10 Christopher Heinen Elke Holinski-Feder 11 Maija Kohonen-Corish Kristina Lagerstedt Robinson Suet Yi Leung Alexandra Martins 9, 12 Pal Moller Monika Morak 13 Minna Nystrom 14 Paivi Peltomaki Marta Pineda Ming Qi 15 Rajkumar Ramesar Lene Juel Rasmussen 16 Brigitte Royer-Pokora Rodney Scott 17 Rolf Sijmons Sean Tavtigian 18 Carli Tops Thomas Weber 19 Juul Wijnen 20 Michael Woods 21 Finlay Macrae 22 Maurizio Genuardi 23
1 Queensland Institute of Medical Research
2 sans affiliation
3 HNPCC-register, Hvidovre Hospital
4 Programa de Diagnòstic Molecular de Càncer Hereditari, Laboratori de Recerca Translacional, Institut Català d'Oncologia-IDIBELL, Hospital Duran i Reynals
5 Human Genetics
6 CPTP - Centre de Physiopathologie Toulouse Purpan (ex IFR 30 et IFR 150)
7 Institute of Medical Genetics
8 Génétique médicale et fonctionnelle du cancer et des maladies neuropsychiatriques
9 GPMCND - Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques
10 IACR - International Agency for Cancer Research
11 University Hospital of the Ludwig-Maximilians University
12 Normandie Univ, UNIROUEN, Inserm U1079 and Rouen University Hospital, Department of Genetics, Normandy Center for Genomic and Personalized Medicine, Rouen, France
13 University Hospital of the Ludwig-Maximilian-University Munich
14 Department of Biosciences
15 School of Materials and Metallurgy
16 Department of Science
17 Discipline of Medical Genetic, Faculty of Health
18 Department of Oncological Sciences
19 Department of Earth and Environmental Sciences [Rochester]
20 Department of Clinical Genetics and GROM
21 UNC - University of North Carolina [Chapel Hill]
22 Department of Colorectal Medicine and Genetics
23 Medical Genetics Unit, Department of Clinical Physiopathology
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https://hal-normandie-univ.archives-ouvertes.fr/hal-02336401
Contributeur : Alexandra Martins <>
Soumis le : lundi 28 octobre 2019 - 18:06:41
Dernière modification le : mercredi 20 novembre 2019 - 10:40:04

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COMUE-NORMANDIE | UNIV-TLSE3 | UNIROUEN | CNRS

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Bryony Thompson, Amanda Spurdle, John-Paul Plazzer, Marc Greenblatt, Kiwamu Akagi, et al.. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nature Genetics, Nature Publishing Group, 2014, 46 (2), pp.107-115. ⟨10.1038/ng.2854⟩. ⟨hal-02336401⟩

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