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

Childhood-onset hypocomplementaemic urticarial vasculitis in France: phenotypic and genotypic diversity in 10 children

法国儿童期发病的低补体血症性荨麻疹性血管炎:10例儿童的表型和基因型多样性

Bianchi, Chloe; Melki, Isabelle; Sisirak, Vanja; Loizon, Severine; Broly, Martin; Boursier, Guilaine; Tusseau, Maud; Laurent, Audrey; Belot, Alexandre; Eitenschenck, Laurence; Guigonis, Vincent; Jeziorski, Eric; Leguevaques, Damia; Richer, Olivier; Pillet, Pascal; Granel, Jérôme

A WAS promoter variant underlying Wiskott-Aldrich syndrome in two kindreds

两个家族中威斯科特-奥尔德里奇综合征的病因是WAS启动子变异

Ober, Pauline; Lenoir, Christelle; Maillard, Arnaud; Vigue, Marie-Gabrielle; Willems, Marjolaine; Baron-Joly, Sandrine; Aubert, Carole E; Tinner, Eva Maria; Lambert, Nathalie; El Missaoui, Iben; Parisot, Frédéric; Fayand, Antoine; Seeleuthner, Yoann; Hanein, Sylvain; Le Voyer, Tom; Broly, Martin; Boursier, Guilaine; Casanova, Jean-Laurent; Zhang, Peng; Schmid, Jana Pachlopnik; Latour, Sylvain; Rosain, Jérémie

Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up

FAM111B相关皮肤异色症及表型谱扩展中的泛素-蛋白酶体系统失调:新病例报告和长期随访

Virginie Vignard,Mike Maillasson,Anne Bigot,Sébastien Küry,Thomas Besnard,Martin Broly,Aurélie Guého,Emmanuelle Com,Erica Davis,Wallid Deb,Laëtitia Florenceau,Karen Sobriel,Grégoire Ménard,Betty Gardie,Alice Goldenberg,Joseph Porrmann,Randal Richardson,Léa Ruffier,Smail Hadj-Rabia,Stéphane Bézieau,Sébastien Barbarot,Frédéric Ebstein,Sandra Mercier

Progressive familial intrahepatic cholestasis type 5 due to a novel mutation in the NR1H4 gene

由NR1H4基因新突变引起的进行性家族性肝内胆汁淤积症5型

Belhadj, Rim; Maaloul, Ines; Besghaier, Wissem; Kolsi, Roeya; Sabaouni, Naoual; Broly, Frank; Kamoun, Thouraya

Improved Identification of Large-effect Rare Genetic Variants using Haplotype Aggregated Allele-specific Expression Data

利用单倍型聚合等位基因特异性表达数据改进对大效应罕见遗传变异的识别

Ganapathy, Kaushik Ram; Broly, Martin; Silverstein, Sarah; Mendoza, Marcela; Song, Eric; Kotis, Bence; Hoffman, Paul; Torkamani, Ali; Adams, David R; Bonnemann, Carsten; Lappalainen, Tuuli; Mohammadi, Pejman

Comparison of the ABC and ACMG systems for variant classification

ABC系统与ACMG系统在变异分类中的比较

Houge, Gunnar; Bratland, Eirik; Aukrust, Ingvild; Tveten, Kristian; Žukauskaitė, Gabrielė; Sansovic, Ivona; Brea-Fernández, Alejandro J; Mayer, Karin; Paakkola, Teija; McKenna, Caoimhe; Wright, William; Markovic, Milica Keckarevic; Lildballe, Dorte L; Konecny, Michal; Smol, Thomas; Alhopuro, Pia; Gouttenoire, Estelle Arnaud; Obeid, Katharina; Todorova, Albena; Jankovic, Milena; Lubieniecka, Joanna M; Stojiljkovic, Maja; Buisine, Marie-Pierre; Haukanes, Bjørn Ivar; Lorans, Marie; Roomere, Hanno; Petit, François M; Haanpää, Maria K; Beneteau, Claire; Pérez, Belén; Plaseska-Karanfilska, Dijana; Rath, Matthias; Fuhrmann, Nico; Ferreira, Bibiana I; Stephanou, Coralea; Sjursen, Wenche; Maver, Aleš; Rouzier, Cécile; Chirita-Emandi, Adela; Gonçalves, João; Kuek, Wei Cheng David; Broly, Martin; Haer-Wigman, Lonneke; Thong, Meow-Keong; Tae, Sok-Kun; Hyblova, Michaela; den Dunnen, Johan T; Laner, Andreas

Effects of the COVID-19 pandemic: new approaches for accelerated delivery of gene to first-in-human CMC data for recombinant proteins

新冠疫情的影响:加速将基因递送至重组蛋白首次人体CMC数据的新方法

Broly, Hervé; Souquet, Jonathan; Beck, Alain

GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndrome

GenIDA是一个参与式患者登记系统,用于收集遗传性智力障碍患者的信息,该系统提供了237名库伦-德弗里斯综合征患者的详细照护者报告信息。

Colin, Florent; Burger, Pauline; Mazzucotelli, Timothée; Strehle, Axelle; Kummeling, Joost; Collot, Nicole; Broly, Elyette; Morgan, Angela T; Myers, Kenneth A; Bloch-Zupan, Agnès; Ockeloen, Charlotte W; de Vries, Bert B A; Kleefstra, Tjitske; Parrend, Pierre; Koolen, David A; Mandel, Jean-Louis

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

THUMPD1 双等位基因变异导致 tRNA 乙酰化丧失和综合征性神经发育障碍

Martin Broly, Bogdan V Polevoda, Kamel M Awayda, Ning Tong, Jenna Lentini, Thomas Besnard, Wallid Deb, Declan O'Rourke, Julia Baptista, Sian Ellard, Mohammed Almannai, Mais Hashem, Ferdous Abdulwahab, Hanan Shamseldin, Saeed Al-Tala, Fowzan S Alkuraya, Alberta Leon, Rosa L E van Loon, Alessandra Fer

Rapid cGMP manufacturing of COVID-19 monoclonal antibody using stable CHO cell pools

利用稳定的CHO细胞库快速生产符合cGMP标准的COVID-19单克隆抗体

Agostinetto, Rita; Rossi, Mara; Dawson, Jessica; Lim, Angela; Simoneau, Mirva H; Boucher, Cyril; Valldorf, Bernhard; Ross-Gillespie, Adin; Jardine, Joseph G; Sok, Devin; Burton, Dennis R; Hassell, Thomas; Broly, Hervé; Palinsky, Wolf; Dupraz, Philippe; Feinberg, Mark; Dey, Antu K