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

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

Screening Mammography and Breast Cancer: Variation in Risk with Rare Deleterious or Predicted Deleterious Variants in DNA Repair Genes

乳腺癌筛查:DNA修复基因中罕见有害或预测有害变异与风险差异的关系

Ribeiro-Guerra, Maximiliano; Dondon, Marie-Gabrielle; Eon-Marchais, Séverine; Le Gal, Dorothée; Beauvallet, Juana; Mebirouk, Noura; Belotti, Muriel; Cavaciuti, Eve; Adenis-Lavignasse, Claude; Audebert-Bellanger, Séverine; Berthet, Pascaline; Bonadona, Valérie; Buecher, Bruno; Caron, Olivier; Cavaille, Mathias; Chiesa, Jean; Colas, Chrystelle; Coupier, Isabelle; Delnatte, Capucine; Dreyfus, Hélène; Fajac, Anne; Fert-Ferrer, Sandra; Fricker, Jean-Pierre; Gauthier-Villars, Marion; Gesta, Paul; Giraud, Sophie; Gladieff, Laurence; Lasset, Christine; Lejeune-Dumoulin, Sophie; Limacher, Jean-Marc; Longy, Michel; Lortholary, Alain; Luporsi, Elisabeth; Maugard, Christine M; Mortemousque, Isabelle; Nambot, Sophie; Noguès, Catherine; Pujol, Pascal; Venat-Bouvet, Laurence; Soubrier, Florent; Tinat, Julie; Tardivon, Anne; Lesueur, Fabienne; Stoppa-Lyonnet, Dominique; Andrieu, Nadine

SARS-COV-2 Vaccination Response in Non-Domestic Species Housed at the Toronto Zoo

多伦多动物园饲养的非家养动物对SARS-CoV-2疫苗的反应

Pagliarani, Sara; Tuling, Jaime; Pham, Phuc H; Leacy, Alexander; Delnatte, Pauline; Lillie, Brandon N; Masters, Nicholas; Sookhoo, Jamie; Babiuk, Shawn; Wootton, Sarah K; Susta, Leonardo

T- and B-cell lymphomas in 2 captive green tree pythons

两只圈养绿树蟒患有T细胞和B细胞淋巴瘤

Pagliarani, Sara; Haydock, Luke; Susta, Leonardo; Delnatte, Pauline; Larouche, Cédric B; Seguel, Mauricio

Outbreak of Highly Pathogenic Avian Influenza A(H5N1) Virus in Seals, St. Lawrence Estuary, Quebec, Canada(1)

加拿大魁北克省圣劳伦斯河口海豹中爆发高致病性禽流感A(H5N1)病毒(1)

Lair, Stéphane; Quesnel, Louise; Signore, Anthony V; Delnatte, Pauline; Embury-Hyatt, Carissa; Nadeau, Marie-Soleil; Lung, Oliver; Ferrell, Shannon T; Michaud, Robert; Berhane, Yohannes

Experimental pathogenesis of aquatic bird bornavirus 1 in Pekin ducks

北京鸭体内水禽博尔纳病毒1型的实验致病性

Ampuero, Fernanda; Leacy, Alexander; Pham, Phuc H; Che, Sunoh; Jardine, Claire; Nagy, Eva; Delnatte, Pauline; Lillie, Brandon N; Susta, Leonardo

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

BRCA1相关蛋白1(BAP1)中罕见的种系杂合错义变异会导致一种综合征性神经发育障碍。

Küry, Sébastien; Ebstein, Frédéric; Mollé, Alice; Besnard, Thomas; Lee, Ming-Kang; Vignard, Virginie; Hery, Tiphaine; Nizon, Mathilde; Mancini, Grazia M S; Giltay, Jacques C; Cogné, Benjamin; McWalter, Kirsty; Deb, Wallid; Mor-Shaked, Hagar; Li, Hong; Schnur, Rhonda E; Wentzensen, Ingrid M; Denommé-Pichon, Anne-Sophie; Fourgeux, Cynthia; Verheijen, Frans W; Faurie, Eva; Schot, Rachel; Stevens, Cathy A; Smits, Daphne J; Barr, Eileen; Sheffer, Ruth; Bernstein, Jonathan A; Stimach, Chandler L; Kovitch, Eliana; Shashi, Vandana; Schoch, Kelly; Smith, Whitney; van Jaarsveld, Richard H; Hurst, Anna C E; Smith, Kirstin; Baugh, Evan H; Bohm, Suzanne G; Vyhnálková, Emílie; Ryba, Lukáš; Delnatte, Capucine; Neira, Juanita; Bonneau, Dominique; Toutain, Annick; Rosenfeld, Jill A; Audebert-Bellanger, Séverine; Gilbert-Dussardier, Brigitte; Odent, Sylvie; Laumonnier, Frédéric; Berger, Seth I; Smith, Ann C M; Bourdeaut, Franck; Stern, Marc-Henri; Redon, Richard; Krüger, Elke; Margueron, Raphaël; Bézieau, Stéphane; Poschmann, Jeremie; Isidor, Bertrand

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach

通过共分离研究对101个意义未明的BRCA1和BRCA2变异进行分类:一种有效的方法

Caputo, Sandrine M; Golmard, Lisa; Léone, Mélanie; Damiola, Francesca; Guillaud-Bataille, Marine; Revillion, Françoise; Rouleau, Etienne; Derive, Nicolas; Buisson, Adrien; Basset, Noémie; Schwartz, Mathias; Vilquin, Paul; Garrec, Celine; Privat, Maud; Gay-Bellile, Mathilde; Abadie, Caroline; Abidallah, Khadija; Airaud, Fabrice; Allary, Anne-Sophie; Barouk-Simonet, Emmanuelle; Belotti, Muriel; Benigni, Charlotte; Benusiglio, Patrick R; Berthemin, Christelle; Berthet, Pascaline; Bertrand, Ophelie; Bézieau, Stéphane; Bidart, Marie; Bignon, Yves-Jean; Birot, Anne-Marie; Blanluet, Maud; Bloucard, Amelie; Bombled, Johny; Bonadona, Valerie; Bonnet, Françoise; Bonnet-Dupeyron, Marie-Noëlle; Boulaire, Manon; Boulouard, Flavie; Bouras, Ahmed; Bourdon, Violaine; Brahimi, Afane; Brayotel, Fanny; Bressac de Paillerets, Brigitte; Bronnec, Noémie; Bubien, Virginie; Buecher, Bruno; Cabaret, Odile; Carriere, Jennifer; Chiesa, Jean; Chieze-Valéro, Stephanie; Cohen, Camille; Cohen-Haguenauer, Odile; Colas, Chrystelle; Collonge-Rame, Marie-Agnès; Conoy, Anne-Laure; Coulet, Florence; Coupier, Isabelle; Crivelli, Louise; Cusin, Véronica; De Pauw, Antoine; Dehainault, Catherine; Delhomelle, Hélène; Delnatte, Capucine; Demontety, Sophie; Denizeau, Philippe; Devulder, Pierre; Dreyfus, Helene; d'Enghein, Catherine Dubois; Dupré, Anaïs; Durlach, Anne; Dussart, Sophie; Fajac, Anne; Fekairi, Samira; Fert-Ferrer, Sandra; Fiévet, Alice; Fouillet, Robin; Mouret-Fourme, Emmanuelle; Gauthier-Villars, Marion; Gesta, Paul; Giraud, Sophie; Gladieff, Laurence; Goldbarg, Veronica; Goussot, Vincent; Guibert, Virginie; Guillerm, Erell; Guy, Christophe; Hardouin, Agnès; Heude, Céline; Houdayer, Claude; Ingster, Olivier; Jacquot-Sawka, Caroline; Jones, Natalie; Krieger, Sophie; Lacoste, Sofiane; Lallaoui, Hakima; Larbre, Helene; Laugé, Anthony; Le Guyadec, Gabrielle; Le Mentec, Marine; Lecerf, Caroline; Le Gall, Jessica; Legendre, Bérengère; Legrand, Clémentine; Legros, Angélina; Lejeune, Sophie; Lidereau, Rosette; Lignon, Norbert; Limacher, Jean-Marc; Doriane Livon; Lizard, Sarab; Longy, Michel; Lortholary, Alain; Macquere, Pierre; Mailliez, Audrey; Malsa, Sarah; Margot, Henri; Mari, Véronique; Maugard, Christine; Meira, Cindy; Menjard, Julie; Molière, Diane; Moncoutier, Virginie; Moretta-Serra, Jessica; Muller, Etienne; Nevière, Zoe; Nguyen Minh Tuan, Thien-Vu; Noguchi, Tetsuro; Noguès, Catherine; Oca, Florine; Popovici, Cornel; Prieur, Fabienne; Raad, Sabine; Rey, Jean-Marc; Ricou, Agathe; Salle, Lucie; Saule, Claire; Sevenet, Nicolas; Simaga, Fatoumata; Sobol, Hagay; Suybeng, Voreak; Tennevet, Isabelle; Tenreiro, Henrique; Tinat, Julie; Toulas, Christine; Turbiez, Isabelle; Uhrhammer, Nancy; Vande Perre, Pierre; Vaur, Dominique; Venat, Laurence; Viellard, Nicolas; Villy, Marie-Charlotte; Warcoin, Mathilde; Yvard, Alice; Zattara, Helene; Caron, Olivier; Lasset, Christine; Remenieras, Audrey; Boutry-Kryza, Nadia; Castéra, Laurent; Stoppa-Lyonnet, Dominique