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

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

Use of Prenatal Exome Sequencing: Opinion Statement of the French Federation of Human Genetics Working Group

产前外显子组测序的应用:法国人类遗传学联合会工作组意见声明

Cogan, Guillaume; Troadec, Marie-Bérengère; Devillard, Françoise; Saint-Frison, Marie-Hélène; Geneviève, David; Vialard, François; Rial-Sebbag, Emmanuelle; Héron, Delphine; Attie-Bitach, Tania; Benachi, Alexandra; Saugier-Veber, Pascale

De novo MAP2K4 variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons

新发的MAP2K4变异会导致一种新的神经发育综合征,其特征是iPSC衍生神经元中的JNK信号传导受损。

Nomakuchi, Tomoki T; Rippert, Alyssa L; De León, Sabrina A Santos; Gonzalez, Elizabeth M; Li, Dong; Angireddy, Rajesh; Finoti, Livia Sertori; Faletra, Flavio; Musante, Luciana; Tuula, Rinne; Amor, David J; von Wintzingerode, Lydia; Jamra, Rami Abou; Stover, Samantha R; Buchan, Jillian G; Hayek, Jennifer; Leon, Eyby; Attie-Bitach, Tania; Rio, Marlene; Baujat, Genevieve; Wallach, Elisabeth; Smail, Amandine; Dias, Kerith-Rae; Pfeifer, Ulrich; Peterson, Amanda; Ahrens-Nicklas, Rebecca C; Bhoj, Elizabeth J K

A cell fate decision map reveals abundant direct neurogenesis bypassing intermediate progenitors in the human developing neocortex

细胞命运决策图揭示了人类发育新皮层中大量绕过中间祖细胞的直接神经发生

Laure Coquand #, Clarisse Brunet Avalos #, Anne-Sophie Macé, Sarah Farcy, Amandine Di Cicco, Marusa Lampic, Ryszard Wimmer, Betina Bessières, Tania Attie-Bitach, Vincent Fraisier, Pierre Sens, Fabien Guimiot, Jean-Baptiste Brault, Alexandre D Baffet

The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients

通过对八名新患者的鉴定,MEGF8相关卡彭特综合征(CRPT2)的表型得到了完善。

Watts, Laura M; Bertoli, Marta; Attie-Bitach, Tania; Roux, Natalie; Rausell, Antonio; Paschal, Cate R; Zambonin, Jessica L; Curry, Cynthia J; Martin, Blanche; Tooze, Rebecca S; Hawkes, Lara; Kini, Usha; Twigg, Stephen R F; Wilkie, Andrew O M

Inferring disease course from differential exon usage in the wide titinopathy spectrum

通过肌联蛋白病谱系中外显子的差异使用来推断疾病进程

Di Feo, Maria Francesca; Oghabian, Ali; Nippala, Ella; Gautel, Mathias; Jungbluth, Heinz; Forzano, Francesca; Malfatti, Edoardo; Castiglioni, Claudia; Krey, Ilona; Gomez Andres, David; Brady, Angela F; Iascone, Maria; Cereda, Anna; Pezzani, Lidia; Natera De Benito, Daniel; Nascimiento Osorio, Andres; Estévez Arias, Berta; Kurbatov, Sergei A; Attie-Bitach, Tania; Nampoothiri, Sheela; Ryan, Erin; Morrow, Michelle; Gorokhova, Svetlana; Chabrol, Brigitte; Sinisalo, Juha; Tolppanen, Heli; Tolva, Johanna; Munell, Francina; Camacho Soriano, Jessica; Sanchez Duran, Maria Angeles; Johari, Mridul; Tajsharghi, Homa; Hackman, Peter; Udd, Bjarne; Savarese, Marco

Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome

下一代表型分析技术在歌舞伎综合征诊断及表型-基因型相关性研究中的应用

Hennocq, Quentin; Willems, Marjolaine; Amiel, Jeanne; Arpin, Stéphanie; Attie-Bitach, Tania; Bongibault, Thomas; Bouygues, Thomas; Cormier-Daire, Valérie; Corre, Pierre; Dieterich, Klaus; Douillet, Maxime; Feydy, Jean; Galliani, Eva; Giuliano, Fabienne; Lyonnet, Stanislas; Picard, Arnaud; Porntaveetus, Thantrira; Rio, Marlène; Rouxel, Flavien; Shotelersuk, Vorasuk; Toutain, Annick; Yauy, Kevin; Geneviève, David; Khonsari, Roman H; Garcelon, Nicolas

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta

视黄酸受体β亚基功能紊乱相关的临床和功能异质性

Caron, Véronique; Chassaing, Nicolas; Ragge, Nicola; Boschann, Felix; Ngu, Angelina My-Hoa; Meloche, Elisabeth; Chorfi, Sarah; Lakhani, Saquib A; Ji, Weizhen; Steiner, Laurie; Marcadier, Julien; Jansen, Philip R; van de Pol, Laura A; van Hagen, Johanna M; Russi, Alvaro Serrano; Le Guyader, Gwenaël; Nordenskjöld, Magnus; Nordgren, Ann; Anderlid, Britt-Marie; Plaisancié, Julie; Stoltenburg, Corinna; Horn, Denise; Drenckhahn, Anne; Hamdan, Fadi F; Lefebvre, Mathilde; Attie-Bitach, Tania; Forey, Peggy; Smirnov, Vasily; Ernould, Françoise; Jacquemont, Marie-Line; Grotto, Sarah; Alcantud, Alberto; Coret, Alicia; Ferrer-Avargues, Rosario; Srivastava, Siddharth; Vincent-Delorme, Catherine; Romoser, Shelby; Safina, Nicole; Saade, Dimah; Lupski, James R; Calame, Daniel G; Geneviève, David; Chatron, Nicolas; Schluth-Bolard, Caroline; Myers, Kenneth A; Dobyns, William B; Calvas, Patrick; Salmon, Caroline; Holt, Richard; Elmslie, Frances; Allaire, Marc; Prigozhin, Daniil M; Tremblay, André; Michaud, Jacques L

AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes

利用外耳形状对伴有小头畸形的下颌面骨发育不全进行人工智能诊断

Hennocq, Quentin; Bongibault, Thomas; Marlin, Sandrine; Amiel, Jeanne; Attie-Bitach, Tania; Baujat, Geneviève; Boutaud, Lucile; Carpentier, Georges; Corre, Pierre; Denoyelle, Françoise; Djate Delbrah, François; Douillet, Maxime; Galliani, Eva; Kamolvisit, Wuttichart; Lyonnet, Stanislas; Milea, Dan; Pingault, Véronique; Porntaveetus, Thantrira; Touzet-Roumazeille, Sandrine; Willems, Marjolaine; Picard, Arnaud; Rio, Marlène; Garcelon, Nicolas; Khonsari, Roman H

Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs

通过产前全外显子组测序和产前体征回顾诊断门克-亨内卡姆综合征

Cogan, Guillaume; Bourgon, Nicolas; Borghese, Roxana; Julien, Emmanuel; Jaquette, Aurélia; Stos, Bertrand; Achaiaa, Amale; Chuon, Sophie; Nitschke, Patrick; Fourrage, Cécile; Stirnemann, Julien; Boutaud, Lucile; Attie-Bitach, Tania