日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Nanopore sequencing as a cutting-edge technology for medulloblastoma classification.

纳米孔测序作为髓母细胞瘤分类的前沿技术

Filser Mathilde, Torrejon Jacob, Merchadou Kevin, Dufour Christelle, Girard Elodie, Bourneix Christine, Lemaître Elisa, Gharsalli Tarek, Brillet Riwan, Wong Jennifer, Gentien David, Rapinat Audrey, Servant Nicolas, Vasiljevic Alexandre, Bertozzi Anne Isabelle, Raimbault Sandra, Tauziede Espariat Arnault, Lhermitte Benoit, Faure-Conter Cécile, Icher Céline, Berger Claire, Maurage Claude Alain, Bodet Damien, Meyronet David, Uro-Coste Emmanuelle, De Carli Emilie, Forest Fabien, Palenzuela Gilles, Chotard Guillaume, Gauchotte Guillaume, Sudour Helene, Mansuy Ludovic, Deparis Marianna, Tallegas Matthias, Faisant Maxime, Entz-Werle Natacha, Varlet Pascale, Leblond Pierre, Michalak-Provost Sophie, Proust Houdemont Stéphanie, Rigau Valérie, Doz François, Delattre Olivier, Bourdeaut Franck, Ayrault Olivier, Masliah-Planchon Julien

Uveal Melanoma and the Lynch Syndrome Tumor Spectrum

葡萄膜黑色素瘤和林奇综合征肿瘤谱

Le Ven, Anaïs; Villy, Marie-Charlotte; Silveira, André Bortolini; Houy, Alexandre; Masliah-Planchon, Julien; Warcoin, Mathilde; Le Mentec, Marine; Simaga, Fatoumata; De Pauw, Antoine; Buecher, Bruno; Gauthier-Villars, Marion; Verrier, Thibault; Merchadou, Kevin; Renault, Victor; Vincent-Salomon, Anne; Sauge, Juliette; El Zein, Sophie; Dubois d'Enghien, Catherine; Piperno-Neumann, Sophie; Matet, Alexandre; Malaise, Denis; Cassoux, Nathalie; Lumbroso-Le Rouic, Livia; Stoppa-Lyonnet, Dominique; Stern, Marc-Henri; Rodrigues, Manuel; Golmard, Lisa; Colas, Chrystelle

A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript

BRCA1 基因的创始外显子重复,其断点位于 T2T 参考基因组特异性区域,导致产生构成性融合转录本。

Schwartz, Mathias; Filser, Mathilde; Merchadou, Kevin; Lemaitre, Elisa; Abidallah, Khadija; Tenreiro, Henrique; Dubois D'enghien, Catherine; Rapinat, Audrey; Pierre-Noel, Elise; Suybeng, Voreak; Espenel, Marion; Baulande, Sylvain; Adams, Séverine; Remenieras, Audrey; Renaud, Crystal; Aucouturier, Camille; Delnatte, Capucine; Garrec, Céline; Renault, Victor; Golmard, Lisa; Fourme, Emmanuelle; Masliah-Planchon, Julien; Caputo, Sandrine M

Author Correction: A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript

作者更正:BRCA1 基因创始人外显子重复导致 T2T 参考基因组特异性区域断点,从而产生构成性融合转录本。

Schwartz, Mathias; Filser, Mathilde; Merchadou, Kevin; Lemaitre, Elisa; Abidallah, Khadija; Tenreiro, Henrique; Dubois D'enghien, Catherine; Rapinat, Audrey; Pierre-Noel, Elise; Suybeng, Voreak; Espenel, Marion; Baulande, Sylvain; Adams, Séverine; Remenieras, Audrey; Renaud, Crystal; Aucouturier, Camille; Delnatte, Capucine; Garrec, Céline; Renault, Victor; Golmard, Lisa; Fourme, Emmanuelle; Masliah-Planchon, Julien; Caputo, Sandrine M

MDB-12. NANOPORE SEQUENCING AS A CUTTING-EDGE TECHNOLOGY FOR MEDULLOBLASTOMA CLASSIFICATION

MDB-12.纳米孔测序作为髓母细胞瘤分类的前沿技术

Zhou, Xiaoyu; Zhang, Jianli; Xu, Liwei; Jin, Aiyun; Filser, Mathilde; Torrejon, Jacob; Merchadou, Kevin; Girard, Elodie; Bourneix, Christine; Lemaître, Elisa; Brillet, Riwan; Wong, Jennifer; Gentien, David; Rapinat, Audrey; Servant, Nicolas; Vasiljevic, Alexandre; Bertozzi, Anne-Isabelle; Raimbault, Sandra; Tauziède-Espariat, Arnault; Lhermitte, Benoit; Faure-Conter, Cécile; Icher, Céline; Berger, Claire; Maurage, Claude-Alain; Bodet, Damien; Meyronet, David; Uro-Coste, Emmanuelle; De Carli, Emilie; Forest, Fabien; Palenzuela, Gilles; Chotard, Guillaume; Gauchotte, Guillaume; Sudour, Hélène; Mansuy, Ludovic; Deparis, Mariana; Machet, Marie-Christine; Faisant, Maxime; Entz-Werle, Natacha; Varlet, Pascale; Leblond, Pierre; Michalak-Provost, Sophie; Houdemont, Stéphanie Proust; Rigau, Valérie; Doz, François; Bourdeaut, Franck; Delattre, Olivier; Ayrault, Olivier; Masliah-Planchon, Julien

Adaptive nanopore sequencing to determine pathogenicity of BRCA1 exonic duplication

利用自适应纳米孔测序技术确定BRCA1外显子重复的致病性

Filser, Mathilde; Schwartz, Mathias; Merchadou, Kevin; Hamza, Abderaouf; Villy, Marie-Charlotte; Decees, Antoine; Frouin, Eléonore; Girard, Elodie; Caputo, Sandrine M; Renault, Victor; Becette, Véronique; Golmard, Lisa; Servant, Nicolas; Stoppa-Lyonnet, Dominique; Delattre, Olivier; Colas, Chrystelle; Masliah-Planchon, Julien