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

Epilepsia Open—August 2025 Announcements

癫痫公开赛——2025年8月公告

Barcia, Giulia; Chemaly, Nicole; Gobin-Limballe, Stéphanie; Losito, Emma; Aubart, Mélodie; Sarda, Eugénie; Assouline, Zahra; Plante-Bordeneuve, Pauline; Hully, Marie; Barrois, Remi; Barnerias, Christine; Sareidaki, Doxa; Zeitoun, Delphine Coste; Eisermann, Monika; Fourrage, Cécile; Hanein, Sylvain; Rio, Marlène; Boddaert, Nathalie; Desguerre, Isabelle; Kaminska, Anna; Steffann, Julie; Nabbout, Rima

COG6-related prenatal phenotype (CDG2L): Clinico-pathological report and review of the literature

COG6相关产前表型(CDG2L):临床病理报告及文献综述

Guterman, Sarah; Feresin, Agnese; Boutaud, Lucile; Jacquin, Clémence; Lyonnet, Stanislas; Bernard, Jean-Pierre; Colmant, Claire; Roth, Philippe; Bourgon, Nicolas; Mace, Pierre; Thoreau, Alice; Ville, Yves; Bengoa, Joana; Ait Arkoub, Zaina; Fourrage, Cécile; Encha-Razavi, Ferechté; Bessières, Bettina; Attié-Bitach, Tania

Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs

通过产前全外显子组测序和产前体征回顾诊断门克-亨内卡姆综合征

Cogan, Guillaume; Bourgon, Nicolas; Borghese, Roxana; Julien, Emmanuel; Jaquette, Aurélia; Stos, Bertrand; Achaiaa, Amale; Chuon, Sophie; Nitschke, Patrick; Fourrage, Cécile; Stirnemann, Julien; Boutaud, Lucile; Attie-Bitach, Tania

Corrigendum to: Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study

更正:下一代测序在极早期发病炎症性肠病诊断中的应用:一项多中心研究

Charbit-Henrion, Fabienne; Parlato, Marianna; Hanein, Sylvain; Duclaux-Loras, Rémi; Nowak, Jan; Begue, Bernadette; Rakotobe, Sabine; Bruneau, Julie; Fourrage, Cécile; Alibeu, Olivier; Rieux-Laucat, Frédéric; Lévy, Eva; Stolzenberg, Marie-Claude; Mazerolles, Fabienne; Latour, Sylvain; Lenoir, Christelle; Fischer, Alain; Picard, Capucine; Aloi, Marina; Dias, Jorge Amil; Hariz, Mongi Ben; Bourrier, Anne; Breuer, Christian; Breton, Anne; Bronsky, Jiri; Buderus, Stephan; Cananzi, Mara; Coopman, Stéphanie; Crémilleux, Clara; Dabadie, Alain; Dumant-Forest, Clémentine; Gurkan, Odul Egritas; Fabre, Alexandre; Fischer, Aude; Diaz, Marta German; Gonzalez-Lama, Yago; Goulet, Olivier; Guariso, Graziella; Gurcan, Neslihan; Homan, Matjaz; Hugot, Jean-Pierre; Jeziorski, Eric; Karanika, Evi; Lachaux, Alain; Lewindon, Peter; Lima, Rosa; Magro, Fernando; Major, Janos; Malamut, Georgia; Mas, Emmanuel; Mattyus, Istvan; Mearin, Luisa M; Melek, Jan; Navas-Lopez, Victor Manuel; Paerregaard, Anders; Pelatan, Cecile; Pigneur, Bénédicte; Pais, Isabel Pinto; Rebeuh, Julie; Romano, Claudio; Siala, Nadia; Strisciuglio, Caterina; Tempia-Caliera, Michela; Tounian, Patrick; Turner, Dan; Urbonas, Vaidotas; Willot, Stéphanie; Ruemmele, Frank M; Cerf-Bensussan, Nadine

Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort

全基因座测序鉴定出法国莱伯先天性黑蒙患者群中常见的创始深部内含子 RPGRIP1 病理变异

Isabelle Perrault, Sylvain Hanein, Xavier Gérard, Nelson Mounguengue, Ryme Bouyakoub, Mohammed Zarhrate, Cécile Fourrage, Fabienne Jabot-Hanin, Béatrice Bocquet, Isabelle Meunier, Xavier Zanlonghi, Josseline Kaplan, Jean-Michel Rozet

High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis

针对先天性甲状腺激素合成障碍所致甲状腺功能减退症患者队列的靶向二代测序具有较高的诊断率

Stoupa, Athanasia; Al Hage Chehade, Ghada; Chaabane, Rim; Kariyawasam, Dulanjalee; Szinnai, Gabor; Hanein, Sylvain; Bole-Feysot, Christine; Fourrage, Cécile; Nitschke, Patrick; Thalassinos, Caroline; Pinto, Graziella; Mnif, Mouna; Baron, Sabine; De Kerdanet, Marc; Reynaud, Rachel; Barat, Pascal; Hachicha, Mongia; Belguith, Neila; Polak, Michel; Carré, Aurore

NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome

NHP2 缺乏会损害 rRNA 生物合成并导致肺纤维化和 Høyeraal-Hreidarsson 综合征

Maname Benyelles, Marie-Françoise O'Donohue, Laëtitia Kermasson, Elodie Lainey, Raphael Borie, Chantal Lagresle-Peyrou, Hilario Nunes, Clarisse Cazelles, Cécile Fourrage, Emmanuelle Ollivier, Ambroise Marcais, Anne-Sophie Gamez, Fanny Morice-Picard, Denis Caillaud, Nicolas Pottier, Christelle Ménard

Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2

STAT2基因纯合种系突变导致严重的I型干扰素病和不受控制的干扰素信号传导。

Duncan, Christopher J A; Thompson, Benjamin J; Chen, Rui; Rice, Gillian I; Gothe, Florian; Young, Dan F; Lovell, Simon C; Shuttleworth, Victoria G; Brocklebank, Vicky; Corner, Bronte; Skelton, Andrew J; Bondet, Vincent; Coxhead, Jonathan; Duffy, Darragh; Fourrage, Cecile; Livingston, John H; Pavaine, Julija; Cheesman, Edmund; Bitetti, Stephania; Grainger, Angela; Acres, Meghan; Innes, Barbara A; Mikulasova, Aneta; Sun, Ruyue; Hussain, Rafiqul; Wright, Ronnie; Wynn, Robert; Zarhrate, Mohammed; Zeef, Leo A H; Wood, Katrina; Hughes, Stephen M; Harris, Claire L; Engelhardt, Karin R; Crow, Yanick J; Randall, Richard E; Kavanagh, David; Hambleton, Sophie; Briggs, Tracy A

Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders

针对运动障碍相关基因的靶向基因检测评估

Montaut, Solveig; Tranchant, Christine; Drouot, Nathalie; Rudolf, Gabrielle; Guissart, Claire; Tarabeux, Julien; Stemmelen, Tristan; Velt, Amandine; Fourrage, Cécile; Nitschké, Patrick; Gerard, Bénédicte; Mandel, Jean-Louis; Koenig, Michel; Chelly, Jamel; Anheim, Mathieu

Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study

下一代测序对极早发性炎症性肠病的诊断效果:一项多中心研究

Fabienne Charbit-Henrion, Marianna Parlato, Sylvain Hanein, Rémi Duclaux-Loras, Jan Nowak, Bernadette Begue, Sabine Rakotobe, Julie Bruneau, Cécile Fourrage, Olivier Alibeu, Frédéric Rieux-Laucat, Eva Lévy, Marie-Claude Stolzenberg, Fabienne Mazerolles, Sylvain Latour, Christelle Lenoir, Alain Fisch