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

WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects

WGS 揭示 WES 未发现的新型 BBS5 致病变异,可导致纤毛结构和功能缺陷

Adella Karam, Clarisse Delvallée, Alejandro Estrada-Cuzcano, Véronique Geoffroy, Jean-Baptiste Lamouche, Anne-Sophie Leuvrey, Elsa Nourisson, Julien Tarabeux, Corinne Stoetzel, Sophie Scheidecker, Louise Frances Porter, Emmanuelle Génin, Richard Redon, Florian Sandron, Anne Boland, Jean-François Del

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

Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers

RAD51旁系同源基因的种系有害变异对乳腺癌和卵巢癌的贡献

Golmard, Lisa; Castéra, Laurent; Krieger, Sophie; Moncoutier, Virginie; Abidallah, Khadija; Tenreiro, Henrique; Laugé, Anthony; Tarabeux, Julien; Millot, Gael A; Nicolas, André; Laé, Marick; Abadie, Caroline; Berthet, Pascaline; Polycarpe, Florence; Frébourg, Thierry; Elan, Camille; de Pauw, Antoine; Gauthier-Villars, Marion; Buecher, Bruno; Stern, Marc-Henri; Stoppa-Lyonnet, Dominique; Vaur, Dominique; Houdayer, Claude

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

靶向高通量测序揭示罕见的核苷酸切除修复表型

Calmels, Nadège; Greff, Géraldine; Obringer, Cathy; Kempf, Nadine; Gasnier, Claire; Tarabeux, Julien; Miguet, Marguerite; Baujat, Geneviève; Bessis, Didier; Bretones, Patricia; Cavau, Anne; Digeon, Béatrice; Doco-Fenzy, Martine; Doray, Bérénice; Feillet, François; Gardeazabal, Jesus; Gener, Blanca; Julia, Sophie; Llano-Rivas, Isabel; Mazur, Artur; Michot, Caroline; Renaldo-Robin, Florence; Rossi, Massimiliano; Sabouraud, Pascal; Keren, Boris; Depienne, Christel; Muller, Jean; Mandel, Jean-Louis; Laugel, Vincent

Direct measure of the de novo mutation rate in autism and schizophrenia cohorts

直接测量自闭症和精神分裂症患者群体中的新生突变率

Awadalla, Philip; Gauthier, Julie; Myers, Rachel A; Casals, Ferran; Hamdan, Fadi F; Griffing, Alexander R; Côté, Mélanie; Henrion, Edouard; Spiegelman, Dan; Tarabeux, Julien; Piton, Amélie; Yang, Yan; Boyko, Adam; Bustamante, Carlos; Xiong, Lan; Rapoport, Judith L; Addington, Anjené M; DeLisi, J Lynn E; Krebs, Marie-Odile; Joober, Ridha; Millet, Bruno; Fombonne, Eric; Mottron, Laurent; Zilversmit, Martine; Keebler, Jon; Daoud, Hussein; Marineau, Claude; Roy-Gagnon, Marie-Hélène; Dubé, Marie-Pierre; Eyre-Walker, Adam; Drapeau, Pierre; Stone, Eric A; Lafrenière, Ronald G; Rouleau, Guy A