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

CNV-Hub: an integrated web-based platform for CNV classification and interpretation using multi-algorithm consensus

CNV-Hub:一个基于多算法共识的集成式网络平台,用于CNV分类和解释。

Pillay, Vignesh Guru Victor; Mosca, Anne-Laure; Callegarin, Davide; Marle, Nathalie; Moro, Tristan; Opale, Mélodie; Maaziz, Nada; Egea, Gregory; Payet, Muriel; Ragon, Clémence; Mosnier, Julia; Bouzenard, Alison; Aho, Ludwig Serge; Faivre, Laurence; Callier, Patrick

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

12p13.33 微缺失,包括 ELKS/ERC1 基因,这是一个与儿童言语失用症相关的新基因位点。

Thevenon, Julien; Callier, Patrick; Andrieux, Joris; Delobel, Bruno; David, Albert; Sukno, Sylvie; Minot, Delphine; Mosca Anne, Laure; Marle, Nathalie; Sanlaville, Damien; Bonnet, Marlène; Masurel-Paulet, Alice; Levy, Fabienne; Gaunt, Lorraine; Farrell, Sandra; Le Caignec, Cédric; Toutain, Annick; Carmignac, Virginie; Mugneret, Francine; Clayton-Smith, Jill; Thauvin-Robinet, Christel; Faivre, Laurence

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation

精神分裂症、自闭症和智力障碍中突触和神经发育基因的反复重排以及共同的生物学通路

Guilmatre, Audrey; Dubourg, Christèle; Mosca, Anne-Laure; Legallic, Solenn; Goldenberg, Alice; Drouin-Garraud, Valérie; Layet, Valérie; Rosier, Antoine; Briault, Sylvain; Bonnet-Brilhault, Frédérique; Laumonnier, Frédéric; Odent, Sylvie; Le Vacon, Gael; Joly-Helas, Géraldine; David, Véronique; Bendavid, Claude; Pinoit, Jean-Michel; Henry, Céline; Impallomeni, Caterina; Germano, Eva; Tortorella, Gaetano; Di Rosa, Gabriella; Barthelemy, Catherine; Andres, Christian; Faivre, Laurence; Frébourg, Thierry; Saugier Veber, Pascale; Campion, Dominique