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

Mitotic chromosome condensation resets chromatin to safeguard transcriptional homeostasis during interphase

有丝分裂染色体凝聚重置染色质,以保障间期转录稳态。

Ramos-Alonso, Lucía; Holland, Petter; Le Gras, Stéphanie; Zhao, Xu; Jost, Bernard; Bjørås, Magnar; Barral, Yves; Enserink, Jorrit M; Chymkowitch, Pierre

Extensive NEUROG3 occupancy in the human pancreatic endocrine gene regulatory network

人类胰腺内分泌基因调控网络中广泛的NEUROG3占位

Schreiber, Valérie; Mercier, Reuben; Jiménez, Sara; Ye, Tao; García-Sánchez, Emmanuel; Klein, Annabelle; Meunier, Aline; Ghimire, Sabitri; Birck, Catherine; Jost, Bernard; de Lichtenberg, Kristian Honnens; Honoré, Christian; Serup, Palle; Gradwohl, Gérard

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

FMR1基因内致病变异:导致脆性X综合征的重要突变机制

Quartier, Angélique; Poquet, Hélène; Gilbert-Dussardier, Brigitte; Rossi, Massimiliano; Casteleyn, Anne-Sophie; Portes, Vincent des; Feger, Claire; Nourisson, Elsa; Kuentz, Paul; Redin, Claire; Thevenon, Julien; Mosca-Boidron, Anne-Laure; Callier, Patrick; Muller, Jean; Lesca, Gaetan; Huet, Frédéric; Geoffroy, Véronique; El Chehadeh, Salima; Jung, Matthieu; Trojak, Benoit; Le Gras, Stéphanie; Lehalle, Daphné; Jost, Bernard; Maury, Stéphanie; Masurel, Alice; Edery, Patrick; Thauvin-Robinet, Christel; Gérard, Bénédicte; Mandel, Jean-Louis; Faivre, Laurence; Piton, Amélie

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

一种针对口腔遗传疾病分子诊断的靶向二代测序检测方法

Prasad, Megana K; Geoffroy, Véronique; Vicaire, Serge; Jost, Bernard; Dumas, Michael; Le Gras, Stéphanie; Switala, Marzena; Gasse, Barbara; Laugel-Haushalter, Virginie; Paschaki, Marie; Leheup, Bruno; Droz, Dominique; Dalstein, Amelie; Loing, Adeline; Grollemund, Bruno; Muller-Bolla, Michèle; Lopez-Cazaux, Séréna; Minoux, Maryline; Jung, Sophie; Obry, Frédéric; Vogt, Vincent; Davideau, Jean-Luc; Davit-Beal, Tiphaine; Kaiser, Anne-Sophie; Moog, Ute; Richard, Béatrice; Morrier, Jean-Jacques; Duprez, Jean-Pierre; Odent, Sylvie; Bailleul-Forestier, Isabelle; Rousset, Monique Marie; Merametdijan, Laure; Toutain, Annick; Joseph, Clara; Giuliano, Fabienne; Dahlet, Jean-Christophe; Courval, Aymeric; El Alloussi, Mustapha; Laouina, Samir; Soskin, Sylvie; Guffon, Nathalie; Dieux, Anne; Doray, Bérénice; Feierabend, Stephanie; Ginglinger, Emmanuelle; Fournier, Benjamin; de la Dure Molla, Muriel; Alembik, Yves; Tardieu, Corinne; Clauss, François; Berdal, Ariane; Stoetzel, Corinne; Manière, Marie Cécile; Dollfus, Hélène; Bloch-Zupan, Agnès

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

20年后:通过靶向高通量测序,在一个行为和认知能力改变的家族中发现了MAOA基因的第二个突变

Piton, Amélie; Poquet, Hélène; Redin, Claire; Masurel, Alice; Lauer, Julia; Muller, Jean; Thevenon, Julien; Herenger, Yvan; Chancenotte, Sophie; Bonnet, Marlène; Pinoit, Jean-Michel; Huet, Frédéric; Thauvin-Robinet, Christel; Jaeger, Anne-Sophie; Le Gras, Stéphanie; Jost, Bernard; Gérard, Bénédicte; Peoc'h, Katell; Launay, Jean-Marie; Faivre, Laurence; Mandel, Jean-Louis

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

利用靶向高通量测序进行智力障碍分子诊断的有效策略

Redin, Claire; Gérard, Bénédicte; Lauer, Julia; Herenger, Yvan; Muller, Jean; Quartier, Angélique; Masurel-Paulet, Alice; Willems, Marjolaine; Lesca, Gaétan; El-Chehadeh, Salima; Le Gras, Stéphanie; Vicaire, Serge; Philipps, Muriel; Dumas, Michaël; Geoffroy, Véronique; Feger, Claire; Haumesser, Nicolas; Alembik, Yves; Barth, Magalie; Bonneau, Dominique; Colin, Estelle; Dollfus, Hélène; Doray, Bérénice; Delrue, Marie-Ange; Drouin-Garraud, Valérie; Flori, Elisabeth; Fradin, Mélanie; Francannet, Christine; Goldenberg, Alice; Lumbroso, Serge; Mathieu-Dramard, Michèle; Martin-Coignard, Dominique; Lacombe, Didier; Morin, Gilles; Polge, Anne; Sukno, Sylvie; Thauvin-Robinet, Christel; Thevenon, Julien; Doco-Fenzy, Martine; Genevieve, David; Sarda, Pierre; Edery, Patrick; Isidor, Bertrand; Jost, Bernard; Olivier-Faivre, Laurence; Mandel, Jean-Louis; Piton, Amélie

Genome Sequence of Halomonas sp. Strain A3H3, Isolated from Arsenic-Rich Marine Sediments

从富含砷的海洋沉积物中分离得到的Halomonas sp.菌株A3H3的基因组序列

Koechler, Sandrine; Plewniak, Frédéric; Barbe, Valérie; Battaglia-Brunet, Fabienne; Jost, Bernard; Joulian, Catherine; Philipps, Muriel; Vicaire, Serge; Vincent, Stéphanie; Ye, Tao; Bertin, Philippe N

Next generation sequencing for molecular diagnosis of neuromuscular diseases

用于神经肌肉疾病分子诊断的下一代测序技术

Vasli, Nasim; Böhm, Johann; Le Gras, Stéphanie; Muller, Jean; Pizot, Cécile; Jost, Bernard; Echaniz-Laguna, Andoni; Laugel, Vincent; Tranchant, Christine; Bernard, Rafaelle; Plewniak, Frédéric; Vicaire, Serge; Levy, Nicolas; Chelly, Jamel; Mandel, Jean-Louis; Biancalana, Valérie; Laporte, Jocelyn

Abnormal Wnt and PI3Kinase signaling in the malformed intestine of lama5 deficient mice

羊驼5缺陷小鼠畸形肠道中Wnt和PI3激酶信号异常

Ritié, Léa; Spenlé, Caroline; Lacroute, Joël; Bolcato-Bellemin, Anne-Laure; Lefebvre, Olivier; Bole-Feysot, Christine; Jost, Bernard; Klein, Annick; Arnold, Christiane; Kedinger, Michèle; Bagnard, Dominique; Orend, Gertraud; Simon-Assmann, Patricia

Bcl11b represses a mature T-cell gene expression program in immature CD4(+)CD8(+) thymocytes

Bcl11b抑制未成熟CD4(+)CD8(+)胸腺细胞中成熟T细胞基因表达程序

Kastner, Philippe; Chan, Susan; Vogel, Walter K; Zhang, Ling-Juan; Topark-Ngarm, Acharawan; Golonzhka, Olga; Jost, Bernard; Le Gras, Stéphanie; Gross, Michael K; Leid, Mark