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

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

KDM2A基因的新生变异会导致综合征性神经发育障碍。

Anderson Eric N, Drukewitz Stephan, Kour Sukhleen, Chimata Anuradha V, Rajan Deepa S, Schönnagel Senta, Stals Karen L, Donnelly Deirdre, O'Sullivan Siobhan, Mantovani John F, Tan Tiong Y, Stark Zornitza, Zacher Pia, Chatron Nicolas, Monin Pauline, Drunat Severine, Vial Yoann, Latypova Xenia, Levy Jonathan, Verloes Alain, Carter Jennefer N, Bonner Devon E, Shankar Suma P, Bernstein Jonathan A, Cohen Julie S, Comi Anne, Carere Deanna Alexis, Dyer Lisa M, Mullegama Sureni V, Sanchez-Lara Pedro A, Grand Katheryn, Kim Hyung-Goo, Ben-Mahmoud Afif, Gospe Sidney M Jr, Belles Rebecca S, Bellus Gary, Lichtenbelt Klaske D, Oegema Renske, Rauch Anita, Ivanovski Ivan, Mau-Them Frederic Tran, Garde Aurore, Rabin Rachel, Pappas John, Bley Annette E, Bredow Janna, Wagner Timo, Decker Eva, Bergmann Carsten, Domenach Louis, Margot Henri, Lemke Johannes R, Abou Jamra Rami, Hentschel Julia, Mefford Heather, Singh Amit, Pandey Udai Bhan, Platzer Konrad

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

Spectrum of Phenotypes in SMA Patients With 4 SMN2 Copies in the French Population: Registre SMA France

法国人群中携带4个SMN2基因拷贝的SMA患者的表型谱:法国SMA登记研究

Gerin, Lorène; Ropars, Juliette; Garcia-Uzquiano, Rocío; Gómez-García De la Banda, Marta; Saugier-Veber, Pascale; Desguerre, Isabelle; Salort-Campana, Emmanuelle; Espil, Caroline; Barnerias, Christine; Laugel, Vincent; Cances, Claude; Audic, Frederique; Cintas, Pascal; Le Goff, Laure; Mallaret, Martial; Nouguès, Marie-Christine; Drunat, Séverine; Tard, Céline; Grimaldi, Lamiae; Quijano-Roy, Susana

Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the RTTN Gene

放射状小脑畸形(小脑畸形)是由RTTN基因的复发性变异引起的。

Gins, Clarisse; Guimiot, Fabien; Drunat, Séverine; Prévost, Clemence; Rosenblatt, Jonathan; Capri, Yline; Letard, Pascaline; Khung-Savatovsky, Suonavy; Mahi Henni, Mohamed Amine; Elalaoui, Siham Chafai; Alison, Marianne; Guilmin Crepon, Sophie; Gressens, Pierre; Verloes, Alain; Basto, Renata; El Ghouzzi, Vincent; Passemard, Sandrine

A biallelic variant in GORASP1 causes a novel Golgipathy with glycosylation and mitotic defects

GORASP1 中的双等位基因变异导致一种新的高尔基体病,伴有糖基化和有丝分裂缺陷

Sophie Lebon, Arnaud Bruneel, Séverine Drunat, Alexandra Albert, Zsolt Csaba, Monique Elmaleh, Alexandra Ntorkou, Yann Ténier, François Fenaille, Pierre Gressens, Sandrine Passemard, Odile Boespflug-Tanguy, Imen Dorboz, Vincent El Ghouzzi

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

KDM2A基因的新生变异会导致综合征性神经发育障碍

Anderson Eric N, Drukewitz Stephan, Kour Sukhleen, Chimata Anuradha V, Rajan Deepa S, Schönnagel Senta, Stals Karen L, Donnelly Deirdre, O'Sullivan Siobhan, Mantovani John F, Tan Tiong Y, Stark Zornitza, Zacher Pia, Chatron Nicolas, Monin Pauline, Drunat Severine, Vial Yoann, Latypova Xenia, Levy Jonathan, Verloes Alain, Carter Jennefer N, Bonner Devon E, Shankar Suma P, Bernstein Jonathan A, Cohen Julie S, Comi Anne, Carere Deanna Alexis, Dyer Lisa M, Mullegama Sureni V, Sanchez-Lara Pedro A, Grand Katheryn, Kim Hyung-Goo, Ben-Mahmoud Afif, Gospe Sidney M Jr, Belles Rebecca S, Bellus Gary, Lichtenbelt Klaske D, Oegema Renske, Rauch Anita, Ivanovski Ivan, Mau-Them Frederic Tran, Garde Aurore, Rabin Rachel, Pappas John, Bley Annette E, Bredow Janna, Wagner Timo, Decker Eva, Bergmann Carsten, Domenach Louis, Margot Henri, Lemke Johannes R, Jamra Rami Abou, Hentschel Julia, Mefford Heather, Singh Amit, Pandey Udai Bhan, Platzer Konrad

Germline bi-allelic SH2B3/LNK alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder

生殖系双等位基因SH2B3/LNK改变易导致新生儿幼年型骨髓单核细胞白血病样疾病

Arfeuille, Chloé; Vial, Yoann; Cadenet, Margaux; Caye-Eude, Aurélie; Fenneteau, Odile; Neven, Quentin; Bonnard, Adeline A; Pizzi, Simone; Carpentieri, Giovanna; Capri, Yline; Girardi, Katia; Pedace, Lucia; Macchiaiolo, Marina; Boudhar, Kamel; Khaled, Monia Ben; Chahla, Wadih Abou; Lutun, Anne; Fahd, Mony; Drunat, Séverine; Flex, Elisabetta; Dalle, Jean-Hugues; Strullu, Marion; Locatelli, Franco; Tartaglia, Marco; Cavé, Hélène

Mcph1, mutated in primary microcephaly, is also crucial for erythropoiesis

Mcph1基因在原发性小头畸形中发生突变,它对红细胞生成也至关重要。

Yoann Vial,Jeannette Nardelli,Adeline A Bonnard,Justine Rousselot,Michèle Souyri,Pierre Gressens,Hélène Cavé,Séverine Drunat

Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy

在31名脊髓性肌萎缩症患者队列中检测到复杂的SMN杂合体

Costa-Roger, Mar; Blasco-Pérez, Laura; Gerin, Lorene; Codina-Solà, Marta; Leno-Colorado, Jordi; Gómez-García De la Banda, Marta; Garcia-Uzquiano, Rocio; Saugier-Veber, Pascale; Drunat, Séverine; Quijano-Roy, Susana; Tizzano, Eduardo F

Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families

六个互不相关的突尼斯家族中,与复发性POLR3A突变相关的震颤性共济失调伴中枢髓鞘发育不良表型

Kraoua, Ichraf; Jamoussi, Maha; Drissi, Cyrine; Kraoua, Lilia; Drunat, Séverine; Benrhouma, Hanene; Ben Younes, Thouraya; Nagi, Sonia; Abdelhak, Sonia; Boespflug Tanguy, Odile; Youssef-Turki, Ilhem Ben; Trabelsi, Mediha; Dorboz, Imen