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Journal articles
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 C.S. Fabre 6 Michael Farrell Susan Farrington Ian Frayling 7 Thierry Frebourg 8, 9 David E. Goldgar 10 Christopher Heinen Elke Holinski-Feder 11 Maija Kohonen-Corish Kristina Lagerstedt Robinson Suet Yi Leung Alexandra Martins 9, 8 Pal Moller Monika Morak 12 Minna Nystrom 13 Paivi Peltomaki Marta Pineda Ming Qi 14 Rajkumar Ramesar Lene Juel Rasmussen 15 Brigitte Royer-Pokora Rodney Scott 16 Rolf Sijmons Sean Tavtigian 17 Carli Tops Thomas Weber 18 Juul Wijnen 19 Michael Woods 20 Finlay Macrae 21 Maurizio Genuardi 22
David E. Goldgar 10
Author
Christopher Heinen
Author
Elke Holinski-Feder 11
Author
Maija Kohonen-Corish
Author
Suet Yi Leung
Author
Alexandra Martins 9, 8
Author
IdHAL : alexandra-martinsORCID : 0000-0003-4322-8497IdRef : 193598175
Pal Moller
Author
Maurizio Genuardi 22
Author
1
Queensland Institute of Medical Research (Queensland Institute of Medical Research Locked Bag 2000 Royal Brisbane Hospital Herston, Qld 4029 Australia - Australia)
2
sans affiliation (France)
3
HNPCC-register, Hvidovre Hospital (Hvidovre - Denmark)
- UCPH - University of Copenhagen = Københavns Universitet (Nørregade 10, 1165 København, Danemark - Denmark)
4
Programa de Diagnòstic Molecular de Càncer Hereditari, Laboratori de Recerca Translacional, Institut Català d'Oncologia-IDIBELL, Hospital Duran i Reynals (Gran Via s/n, km 2.7, L'Hospitalet de Llobregat;08907;Barcelona - Spain)
- Hospitalet de Llobregat (France)
6
CPTP - Centre de Physiopathologie Toulouse Purpan (Hôpital de Purpan Place du Docteur Baylac 31024 TOULOUSE CEDEX 3 - France)
- UT3 - Université Toulouse III - Paul Sabatier (118 route de Narbonne - 31062 Toulouse - France)
- Université Fédérale Toulouse Midi-Pyrénées (41 Allée Jules Guesde, 31000 Toulouse - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U1043 (101, rue de Tolbiac, 75013 Paris - France)
- CNRS - Centre National de la Recherche Scientifique : UMR5282 (France)
7
Institute of Medical Genetics (Cardiff - United Kingdom)
- UHW - University Hospital of Wales (Cardiff - United Kingdom)
8
GMFC - Génétique du cancer et des maladies neuropsychiatriques (22 Boulevard Gambetta 76183 Rouen Cedex - France)
- UNIROUEN - Université de Rouen Normandie (1, rue Thomas Becket 76821 Mont-Saint-Aignan Cedex - France)
- NU - Normandie Université (Esplanade de la Paix - CS 14032 - 14032 Caen Cedex 5 - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U1079 (101, rue de Tolbiac, 75013 Paris - France)
9
GPMCND - Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (22, Boulevard Gambetta 76183 Rouen Cedex - France)
- UNIROUEN - Université de Rouen Normandie (1, rue Thomas Becket 76821 Mont-Saint-Aignan Cedex - France)
- NU - Normandie Université (Esplanade de la Paix - CS 14032 - 14032 Caen Cedex 5 - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U1245 (101, rue de Tolbiac, 75013 Paris - France)
10
IACR - International Agency for Cancer Research (150 Cours Albert Thomas, 69372 Lyon CEDEX 08 - France)
11
University Hospital of the Ludwig-Maximilians University (Munich - Germany)
12
University Hospital of the Ludwig-Maximilian-University Munich (80336;Munich - Germany)
13
Department of Biosciences (Helsinki - Finland)
14
School of Materials and Metallurgy (110004 Shenyang - China)
- Northeastern University [Boston] (360 Huntington Ave., Boston, Massachusetts 02115 - United States)
16
Discipline of Medical Genetic, Faculty of Health (Newcastle - Poland)
17
Department of Oncological Sciences (Salt Lake City, UT 84112, USA - United States)
- University of Utah (201 Presidents Cir, Salt Lake City, UT 84112 - United States)
- Huntsman Cancer Institute (Salk Lake City - United States)
18
Department of Earth and Environmental Sciences [Rochester] (P.O. Box 270221 , Rochester, NY 14627 - United States)
- University of Rochester [USA] (Rochester, NY - United States)
19
Department of Clinical Genetics and GROM (MUMC, Maastricht - Netherlands)
20
UNC - University of North Carolina [Chapel Hill] (250 East Franklin Street, Chapel Hill, NC, - United States)
- UNC - University of North Carolina System (United States)
21
Department of Colorectal Medicine and Genetics (Melbourne - Australia)
- The Royal Melbourne Hospital (300 Grattan St, Parkville VIC 3050 - Australia)
22
Medical Genetics Unit, Department of Clinical Physiopathology (Viale Pieraccini, 6;50139;Florence - Italy)
- UniFI - Università degli Studi di Firenze = University of Florence (Piazza di San Marco, 4, 50121 Firenze FI, Italie - Italy)
Document type :
Journal articles
Domain :
Complete list of metadata
https://hal-normandie-univ.archives-ouvertes.fr/hal-02336401
Contributor : Alexandra Martins Connect in order to contact the contributor
Submitted on : Monday, October 28, 2019 - 6:06:41 PM
Last modification on : Friday, November 25, 2022 - 6:54:49 PM
Contributor : Alexandra Martins Connect in order to contact the contributor
Submitted on : Monday, October 28, 2019 - 6:06:41 PM
Last modification on : Friday, November 25, 2022 - 6:54:49 PM
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Identifiers
- HAL Id : hal-02336401, version 1
- DOI : 10.1038/ng.2854
- PUBMEDCENTRAL : PMC4294709
Collections
CNRS | COMUE-NORMANDIE | UNIROUEN | GPMCND | INFINITY | UNIV-UT3 | UT3-TOULOUSEINP
Citation
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, 2014, 46 (2), pp.107-115. ⟨10.1038/ng.2854⟩. ⟨hal-02336401⟩
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