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

Correction: DYRK1A roles in human neural progenitors

更正:DYRK1A 在人类神经祖细胞中的作用

Courraud, Jeremie; Quartier, Angélique; Drouot, Nathalie; Zapata-Bodalo, Irene; Gilet, Johan; Benchoua, Alexandra; Mandel, Jean-Louis; Piton, Amélie

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

主要剪接体U4和U5小核RNA基因的显性变异通过破坏剪接过程导致神经发育障碍。

Nava, Caroline; Cogne, Benjamin; Santini, Amandine; Leitão, Elsa; Lecoquierre, François; Chen, Yuyang; Stenton, Sarah L; Besnard, Thomas; Heide, Solveig; Baer, Sarah; Jakhar, Abhilasha; Neuser, Sonja; Keren, Boris; Faudet, Anne; Forlani, Sylvie; Faoucher, Marie; Uguen, Kevin; Platzer, Konrad; Afenjar, Alexandra; Alessandri, Jean-Luc; Andres, Stephanie; Angelini, Chloé; Aral, Bernard; Arveiler, Benoit; Attie-Bitach, Tania; Aubert Mucca, Marion; Banneau, Guillaume; Barakat, Tahsin Stefan; Barcia, Giulia; Baulac, Stéphanie; Beneteau, Claire; Benkerdou, Fouzia; Bernard, Virginie; Bézieau, Stéphane; Bonneau, Dominique; Bonnet-Dupeyron, Marie-Noelle; Boussion, Simon; Boute, Odile; Brischoux-Boucher, Elise; Bryen, Samantha J; Buratti, Julien; Busa, Tiffany; Caliebe, Almuth; Capri, Yline; Cassinari, Kévin; Caumes, Roseline; Cenni, Camille; Chambon, Pascal; Charles, Perrine; Christodoulou, John; Colson, Cindy; Conrad, Solène; Cospain, Auriane; Coursimault, Juliette; Courtin, Thomas; Couse, Madeline; Coutton, Charles; Creveaux, Isabelle; D'Gama, Alissa M; Dauriat, Benjamin; de Sainte Agathe, Jean-Madeleine; Del Gobbo, Giulia; Delahaye-Duriez, Andrée; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Dieux-Coeslier, Anne; Do Souto Ferreira, Laura; Doco-Fenzy, Martine; Drukewitz, Stephan; Duboc, Véronique; Dubourg, Christèle; Duffourd, Yannis; Dyment, David; El Chehadeh, Salima; Elmaleh, Monique; Faivre, Laurence; Fennelly, Samuel; Fischer, Hanna; Fradin, Mélanie; Galludec Vaillant, Camille; Ganne, Benjamin; Ghoumid, Jamal; Goel, Himanshu; Gokce-Samar, Zeynep; Goldenberg, Alice; Gonfreville Robert, Romain; Gorokhova, Svetlana; Goujon, Louise; Granier, Victoria; Gras, Mathilde; Greally, John M; Greiten, Bianca; Gueguen, Paul; Guerrot, Anne-Marie; Guha, Saurav; Guimier, Anne; Haack, Tobias B; Hadj Abdallah, Hamza; Halleb, Yosra; Harbuz, Radu; Harris, Madeleine; Hentschel, Julia; Héron, Bénédicte; Hitz, Marc-Phillip; Innes, A Micheil; Jadas, Vincent; Januel, Louis; Jean-Marçais, Nolwenn; Jobanputra, Vaidehi; Jobic, Florence; Jornea, Ludmila; Jost, Céline; Julia, Sophie; Kaiser, Frank J; Kaschta, Daniel; Kaya, Sabine; Ketteler, Petra; Khadija, Bochra; Kilpert, Fabian; Knopp, Cordula; Kraft, Florian; Krey, Ilona; Lackmy, Marilyn; Laffargue, Fanny; Lambert, Laetitia; Lamont, Ryan; Laugel, Vincent; Laurie, Steven; Lauzon, Julie L; Lebreton, Louis; Lebrun, Marine; Legendre, Marine; Leguern, Eric; Lehalle, Daphné; Lejeune, Elodie; Lesca, Gaetan; Lesieur-Sebellin, Marion; Levy, Jonathan; Linglart, Agnès; Lyonnet, Stanislas; Lüthy, Kevin; Ma, Alan S; Mach, Corinne; Mandel, Jean-Louis; Mansour-Hendili, Lamisse; Marcadier, Julien; Marin, Victor; Margot, Henri; Marquet, Valentine; May, Angèle; Mayr, Johannes A; Meridda, Catherine; Michaud, Vincent; Michot, Caroline; Nadeau, Gwenael; Naudion, Sophie; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; Odent, Sylvie; Olin, Valerie; Osei-Owusu, Ikeoluwa A; Osmond, Matthew; Õunap, Katrin; Pasquier, Laurent; Passemard, Sandrine; Pauly, Melissa; Patat, Olivier; Pensec, Marine; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Planes, Marc; Poduri, Annapurna; Poirsier, Céline; Pouzet, Antoine; Prince, Bradley; Prouteau, Clément; Pujol, Aurora; Racine, Caroline; Rama, Mélanie; Ramond, Francis; Ranguin, Kara; Raway, Margaux; Reis, André; Renaud, Mathilde; Revencu, Nicole; Richard, Anne-Claire; Riera-Navarro, Lucile; Rius, Rocio; Rodriguez, Diana; Rodriguez-Palmero, Agustí; Rondeau, Sophie; Roser-Unruh, Annika; Rougeot Jung, Christelle; Safraou, Hana; Satre, Véronique; Saugier-Veber, Pascale; Sauvestre, Clément; Schaefer, Elise; Shao, Wanqing; Schanze, Ina; Schlump, Jan-Ulrich; Schlüter Martin, Agatha; Schluth-Bolard, Caroline; Schuhmann, Sarah; Schröder, Christopher; Sebastin, Monisha; Sigaudy, Sabine; Spielmann, Malte; Spodenkiewicz, Marta; St Clair, Laura; Steffann, Julie; Stoeva, Radka; Surowy, Harald; Tarnopolsky, Mark A; Todosi, Calina; Toutain, Annick; Tran Mau-Them, Frédéric; Unterlauft, Astrid; Van-Gils, Julien; Vanlerberghe, Clémence; Vasileiou, Georgia; Vera, Gabriella; Verdel, André; Verloes, Alain; Vial, Yoann; Vignal, Cédric; Vincent, Marie; Vincent-Delorme, Catherine; Vincent-Devulder, Aline; Vitobello, Antonio; Weber, Sacha; Willems, Marjolaine; Zaafrane-Khachnaoui, Khaoula; Zacher, Pia; Zeltner, Lena; Ziegler, Alban; Galej, Wojciech P; Dollfus, Hélène; Thauvin, Christel; Boycott, Kym M; Marijon, Pierre; Lermine, Alban; Malan, Valérie; Rio, Marlène; Kuechler, Alma; Isidor, Bertrand; Drunat, Séverine; Smol, Thomas; Chatron, Nicolas; Piton, Amélie; Nicolas, Gael; Wagner, Matias; Abou Jamra, Rami; Héron, Delphine; Mignot, Cyril; Blanc, Pierre; O'Donnell-Luria, Anne; Whiffin, Nicola; Charbonnier, Camille; Charenton, Clément; Thevenon, Julien; Depienne, Christel

Contribution of families using the GenIDA database to the description of MED13L syndrome and literature review

利用 GenIDA 数据库的家庭对 MED13L 综合征的描述和文献综述的贡献

Caumes, Roseline; Burger, Pauline; Mandel, Jean-Louis; Béhal, Hélène; Ghoumid, Jamal; Smol, Thomas

DYRK1A roles in human neural progenitors.

DYRK1A 在人类神经祖细胞中的作用

Courraud Jeremie, Quartier Angélique, Drouot Nathalie, Zapata-Bodalo Irene, Gilet Johan, Benchoua Alexandra, Mandel Jean-Louis, Piton Amélie

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders

从医生和护理人员自我报告的两组DDX3X相关疾病数据中汲取的经验教训

Ruault, Valentin; Burger, Pauline; Gradels-Hauguel, Johanna; Ruiz, Nathalie; Jamra, Rami Abou; Afenjar, Alexandra; Alembik, Yves; Alessandri, Jean-Luc; Arpin, Stéphanie; Barcia, Giulia; Bendová, Šárka; Bruel, Ange-Line; Charles, Perrine; Chatron, Nicolas; Chopra, Maya; Conrad, Solène; Daire, Valérie Cormier; Cospain, Auriane; Coubes, Christine; Coursimault, Juliette; Delahaye-Duriez, Andrée; Doco, Martine; Dufour, William; Durand, Benjamin; Engel, Camille; Faivre, Laurence; Ferroul, Fanny; Fradin, Mélanie; Frenkiel, Hélène; Fusco, Carlo; Garavelli, Livia; Garde, Aurore; Gerard, Bénédicte; Germanaud, David; Goujon, Louise; Gouronc, Aurélie; Ginglinger, Emmanuelle; Goldenberg, Alice; Hancarova, Miroslava; Havlovicová, Markéta; Heron, Delphine; Isidor, Bertrand; Marçais, Nolwenn Jean; Keren, Boris; Koch-Hogrebe, Margarete; Kuentz, Paul; Lamure, Victoria; Lebre, Anne-Sophie; Lecoquierre, François; Lehman, Natacha; Lesca, Gaetan; Lyonnet, Stanislas; Martin, Delphine; Mignot, Cyril; Neuhann, Teresa M; Nicolas, Gaël; Nizon, Mathilde; Petit, Florence; Philippe, Christophe; Piton, Amélie; Pollazzon, Marzia; Prchalová, Darina; Putoux, Audrey; Rio, Marlène; Rondeau, Sophie; Rossi, Massimiliano; Sabbagh, Quentin; Saugier-Veber, Pascale; Schmetz, Ariane; Steffann, Julie; Thauvin-Robinet, Christel; Toutain, Annick; Them, Frederic Tran Mau; Trimarchi, Gabriele; Vincent, Marie; Vlčková, Markéta; Wieczorek, Dagmar; Willems, Marjolaine; Yauy, Kevin; Zelinová, Michaela; Ziegler, Alban; Chaumette, Boris; Sadikovic, Bekim; Mandel, Jean-Louis; Geneviève, David

GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders

GenIDA:一个国际参与式数据库,旨在获取与遗传性神经发育障碍相关的健康问题知识

Burger, Pauline; Colin, Florent; Strehle, Axelle; Mazzucotelli, Timothée; Collot, Nicole; Coutelle, Romain; Durand, Benjamin; Bouman, Arianne; Landau Prat, Daphna; Kleefstra, Tjitske; Parrend, Pierre; Piton, Amélie; Koolen, David A; Mandel, Jean-Louis

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

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

对人类X染色体上与单基因疾病相关的基因进行系统分析和预测

Leitão, Elsa; Schröder, Christopher; Parenti, Ilaria; Dalle, Carine; Rastetter, Agnès; Kühnel, Theresa; Kuechler, Alma; Kaya, Sabine; Gérard, Bénédicte; Schaefer, Elise; Nava, Caroline; Drouot, Nathalie; Engel, Camille; Piard, Juliette; Duban-Bedu, Bénédicte; Villard, Laurent; Stegmann, Alexander P A; Vanhoutte, Els K; Verdonschot, Job A J; Kaiser, Frank J; Tran Mau-Them, Frédéric; Scala, Marcello; Striano, Pasquale; Frints, Suzanna G M; Argilli, Emanuela; Sherr, Elliott H; Elder, Fikret; Buratti, Julien; Keren, Boris; Mignot, Cyril; Héron, Delphine; Mandel, Jean-Louis; Gecz, Jozef; Kalscheuer, Vera M; Horsthemke, Bernhard; Piton, Amélie; Depienne, Christel

Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

利用基于互作组驱动的优先排序方法,通过单例全外显子组和全基因组测序诊断遗传性白质疾病

Schlüter, Agatha; Rodríguez-Palmero, Agustí; Verdura, Edgard; Vélez-Santamaría, Valentina; Ruiz, Montserrat; Fourcade, Stéphane; Planas-Serra, Laura; Martínez, Juan José; Guilera, Cristina; Girós, Marisa; Artuch, Rafael; Yoldi, María Eugenia; O'Callaghan, Mar; García-Cazorla, Angels; Armstrong, Judith; Marti, Itxaso; Mondragón Rezola, Elisabet; Redin, Claire; Mandel, Jean Louis; Conejo, David; Sierra-Córcoles, Concepción; Beltrán, Sergi; Gut, Marta; Vázquez, Elida; Del Toro, Mireia; Troncoso, Mónica; Pérez-Jurado, Luis A; Gutiérrez-Solana, Luis G; López de Munain, Adolfo; Casasnovas, Carlos; Aguilera-Albesa, Sergio; Macaya, Alfons; Pujol, Aurora

AAV-delivered diacylglycerol kinase DGKk achieves long-term rescue of fragile X syndrome mouse model

AAV递送的二酰甘油激酶DGKk可长期挽救脆性X综合征小鼠模型

Habbas, Karima; Cakil, Oktay; Zámbó, Boglárka; Tabet, Ricardos; Riet, Fabrice; Dembele, Doulaye; Mandel, Jean-Louis; Hocquemiller, Michaël; Laufer, Ralph; Piguet, Françoise; Moine, Hervé