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

Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition

生殖系致病性DROSHA变异与松果体母细胞瘤和肾母细胞瘤易感性相关

Fiorica, Peter N; Golmard, Lisa; Kim, Jung; Bao, Riyue; Lin, Frank Y; Roy, Angshumoy; Pribnow, Allison; Perrino, Melissa R; Masliah-Planchon, Julien; Michalak-Provost, Sophie; Wong, Jennifer; Filser, Mathilde; Stoppa-Lyonnet, Dominique; Bourdeaut, Franck; Brahimi, Afane; Ingster, Olivier; Saulnier Sholler, Giselle; Jackson, Sarah A; Sasaki, Mark M; Fowler, Trent; Ng, Anita; Corbett, Ryan J; Kaufman, Rebecca S; Haley, Jeremy S; Carey, David J; Huang, Kuan-Lin; Diskin, Sharon J; Rokita, Jo Lynne; Al-Kateb, Hussam; McGee, Rose B; Schiffman, Joshua D; Chen, Kenneth S; Stewart, Douglas R; Williams Parsons, D; Plon, Sharon E; Schultz, Kris Ann P; Onel, Kenan

ATRX loss in adult gliomas lacking H3 alterations or IDH mutations, an exceptional situation for exceptional diagnoses: the experience of Sainte-Anne hospital

在缺乏H3改变或IDH突变的成人胶质瘤中,ATRX缺失是一种特殊情况,需要进行特殊诊断:圣安妮医院的经验

Tauziède-Espariat, Arnault; Roux, Alexandre; Benzakoun, Joseph; Kauv, Paul; Tazi, Sanaa; Métais, Alice; Suwala, Abigail K; Hinz, Felix; Hasty, Lauren; Filser, Mathilde; Masliah-Planchon, Julien; Saffroy, Raphaël; Bucau, Margot; Pallud, Johan; Varlet, Pascale

SMARCB1-deficient malignant melanocytic uveal tumours: a new neural crest-derived tumour entity with SMARCB1-related germline predisposition

SMARCB1缺陷型恶性黑色素细胞性葡萄膜肿瘤:一种具有SMARCB1相关种系易感性的新型神经嵴来源肿瘤

Cyrta, Joanna; Masliah-Planchon, Julien; Hoare, Owen; Brillet, Riwan; Andrianteranagna, Mamy; Sohier, Pierre; Cardoen, Liesbeth; Bouchoucha, Yassine; Filser, Mathilde; Goncalves, Andreia; Caly, Martial; Fréneaux, Paul; Stefanaki, Kalliopi; Pefkianaki, Maria; Moschovi, Maria; Matet, Alexandre; Cassoux, Nathalie; Lumbroso-Le Rouic, Livia; Gauthier-Villars, Marion; Stern, Marc-Henri; Vincent-Salomon, Anne; Rodrigues, Manuel; Bourdeaut, Franck

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

Postzygotic mosaicism of SMARCB1 variants in patients with rhabdoid tumors: A not-so-rare condition exposing to successive tumors

SMARCB1变异的合子后嵌合现象在横纹肌样瘤患者中的表现:一种并非罕见的、易导致肿瘤连续发生的疾病

Thomson, Grégory; Filser, Mathilde; Guerrini-Rousseau, Léa; Tauziede-Espariat, Arnault; Bourneix, Christine; Gauthier-Villars, Marion; Simaga, Fatoumata; Beccaria, Kévin; Faure-Conter, Cécile; Maureille, Aurélien; Zattara-Cannoni, Hélène; Andre, Nicolas; Entz-Werle, Natacha; Brugieres, Laurence; Mansuy, Ludovic; Denizeau, Philippe; Julia, Sophie; Ingster, Olivier; Lejeune, Sophie; Brahimi, Afane; Coupier, Isabelle; Bonadona, Valérie; Delattre, Olivier; Masliah-Planchon, Julien; Bourdeaut, Franck

Medulloblastomas with ELP1 pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window

髓母细胞瘤伴ELP1致病变异:一种低外显率综合征,其发病年龄范围有限。

Guerrini-Rousseau, Léa; Masliah-Planchon, Julien; Filser, Mathilde; Tauziède-Espariat, Arnault; Entz-Werle, Natacha; Maugard, Christine M; Hopman, Saskia M J; Torrejon, Jacob; Gauthier-Villars, Marion; Simaga, Fatoumata; Blauwblomme, Thomas; Beccaria, Kevin; Rouleau, Etienne; Dimaria, Marina; Grill, Jacques; Abbou, Samuel; Claret, Béatrice; Brugières, Laurence; Doz, François; Bouchoucha, Yassine; Faure-Conter, Cécile; Bonadona, Valerie; Mansuy, Ludovic; de Carli, Emilie; Ingster, Olivier; Legrand, Clémentine; Pagnier, Anne; Berthet, Pascaline; Bodet, Damien; Julia, Sophie; Bertozzi, Anne-Isabelle; Wilems, Marjolaine; Maurage, Claude-Alain; Delattre, Olivier; Ayrault, Olivier; Dufour, Christelle; Bourdeaut, Franck

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

SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

SpliceAI-visual:一款免费的在线工具,用于改进 SpliceAI 剪接变异解读。

de Sainte Agathe, Jean-Madeleine; Filser, Mathilde; Isidor, Bertrand; Besnard, Thomas; Gueguen, Paul; Perrin, Aurélien; Van Goethem, Charles; Verebi, Camille; Masingue, Marion; Rendu, John; Cossée, Mireille; Bergougnoux, Anne; Frobert, Laurent; Buratti, Julien; Lejeune, Élodie; Le Guern, Éric; Pasquier, Florence; Clot, Fabienne; Kalatzis, Vasiliki; Roux, Anne-Françoise; Cogné, Benjamin; Baux, David