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

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

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

Development and validation of a new mpox virus sequencing and bioinformatic analysis pipeline

开发和验证一种新的痘病毒测序和生物信息学分析流程

Ochwoto, Missiani; Kuhn, Skyler; Schaughency, Paul; Greene, Ben; Hawes, Kailin; Koukouikila-Koussounda, Felix; Elenga, Reiche Golmard; Boussam, Dachel Aymard Eyenet; Mayangue, Pembe Issamou; Schulz, Jonathan; Martens, Craig; Niama, Fabien Roch; Lack, Justin; Relich, Ryan F; Munster, Vincent J; Yinda, Claude Kwe

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

Deciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratories

解读与TP53致病变异相关的双重临床实体:来自法国实验室53085例HBOC基因检测的启示

Kasper, Edwige; Boulouard, Flavie; Basset, Noémie; Golmard, Lisa; Sassi, Hela; Bouvignies, Emilie; Branchaud, Maud; Charbonnier, Camille; Parodi, Nathalie; Rolain, Marion; Albuisson, Juliette; Al Saati, Ayman; Benusiglio, Patrick; Berthet, Pascaline; Bidart, Marie; Bonnet, Céline; Bouras, Ahmed; Boutry-Kryza, Nadia; Brayotel, Fanny; Bubien, Virginie; Buisson, Adrien; Castéra, Laurent; Caron, Olivier; Colas, Chrystelle; Coulet, Florence; Delnatte, Capucine; Derangère, Valentin; Fievet, Alice; Garrec, Céline; Gauthier-Villars, Marion; Gay-Bellile, Mathilde; Goussot, Vincent; le Gall, Jessica; Lepage, Mathis; Lokchine, Anna; Perrier, Alexandre; Rouleau, Etienne; Sevenet, Nicolas; Stoppa-Lyonnet, Dominique; Ravel, Jean-Marie; Perre, Pierre Vande; Vaur, Dominique; Vilquin, Paul; Bougeard, Gaëlle; Baert-Desurmont, Stéphanie; Thery, Jean-Christophe; Houdayer, Claude

High prevalence of constitutional BRCA1 epimutation in patients with early-onset triple-negative breast cancer

早期发病的三阴性乳腺癌患者中,BRCA1 表观遗传突变的患病率很高

Schwartz, Mathias; Ibadioune, Sabrina; Delhomelle, Hélène; Barraud, Solenn; Caputo, Sandrine M; Trabelsi-Grati, Olfa; Villy, Marie-Charlotte; Laugé, Anthony; Tang, Roseline; Rouleau, Etienne; Mouret-Fourme, Emmanuelle; Stoppa-Lyonnet, Dominique; Pasmant, Éric; Golmard, Lisa; Colas, Chrystelle; Bièche, Ivan

Methylation-sensitive high-resolution melting technology is a simple and sensitive method to detect germline epimutation of the MLH1 gene promoter

甲基化敏感高分辨率熔解技术是一种简单灵敏的检测MLH1基因启动子种系表观突变的方法。

Delhomelle, Hélène; Trabelsi-Grati, Olfa; Villy, Marie-Charlotte; Ibadioune, Sabrina; Maraone, Frederic; Séné, Mathieu; Buecher, Bruno; Mouret-Fourme, Emmanuelle; Gauthier-Villars, Marion; Johannes, Faustine; Golmard, Lisa; Vincent-Salomon, Anne; Pasmant, Eric; Leclerc, Julie; Bahuau, Michel; Bièche, Ivan; Colas, Chrystelle

Clinical implications of incorporating genetic and non-genetic risk factors in CanRisk-based breast cancer risk prediction

将遗传和非遗传风险因素纳入基于CanRisk的乳腺癌风险预测的临床意义

Tüchler, Anja; De Pauw, Antoine; Ernst, Corinna; Anota, Amélie; Lakeman, Inge M M; Dick, Julia; van der Stoep, Nienke; van Asperen, Christi J; Maringa, Monika; Herold, Natalie; Blümcke, Britta; Remy, Robert; Westerhoff, Anke; Stommel-Jenner, Denise J; Frouin, Eléonore; Richters, Lisa; Golmard, Lisa; Kütting, Nadine; Colas, Chrystelle; Wappenschmidt, Barbara; Rhiem, Kerstin; Devilee, Peter; Stoppa-Lyonnet, Dominique; Schmutzler, Rita K; Hahnen, Eric

Major response of a peritoneal mesothelioma to nivolumab and ipilimumab: a case report, molecular analysis and review of literature

腹膜间皮瘤对纳武利尤单抗和伊匹木单抗的显著疗效:病例报告、分子分析及文献综述

Reveneau, Marie-Florence; Masliah-Planchon, Julien; Fernandez, Manuel; Ouikene, Abdenour; Dron, Bernard; Dadamessi, Innocenti; Dayen, Charles; Golmard, Lisa; Chauffert, Bruno