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

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders

剪接因子基因SF3B1的新生变异与神经发育障碍相关。

Uguen, Kevin; Bergot, Tiffany; Scott-Boyer, Marie-Pier; Chapalain, Solène; Desdouets, Camille; Commet, Séverine; Zhu, Changlian; Xu, Yiran; Wang, Yangong; Roscioli, Tony; Tran-Mau-Them, Frederic; Faivre, Laurence; Maraval, Julien; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Vitobello, Antonio; Jost, Céline; Planes, Marc; Hiatt, Susan; Wheeler, Patricia; Gonzaga-Jauregui, Claudia; Wang, Heng; Xin, Baozhong; Sency, Valerie; Kruer, Michael C; Bakhtiari, Somayeh; Sulem, Patrick; Curry, Cynthia; Prescott, Trine; Strobl-Wildemann, Gertrud; Brunet, Theresa; Doco Fenzy, Martine; Courtin, Thomas; Poirsier, Céline; Bjørg Hammer, Trine; Fenger, Christina D; MacPherson, Melissa; Izumi, Kosuke; Leonard, Jacqueline; Li, Dong; Zackai, Elaine H; Glass, Ian A; Ward, Scott; Campeau, Philippe M; Borroto, Maria Carla Hermida; Le Moigno, Laurence; Van Esch, Hilde; De Waele, Liesbeth; Calame, Daniel G; Lupski, James R; Barcia, Giulia; Peduto, Cristina; Planté-Bordeneuve, Pauline; Dupuis, Lucie; Mendoza-Londono, Roberto; Stavropoulos, Dimitri J; Gillibert-Duplantier, Jennifer; Besnard, Thomas; Do Souto Ferreira, Laura; Cogné, Benjamin; Bézieau, Stéphane; Droit, Arnaud; Corcos, Laurent; Lippert, Eric; Férec, Claude; Küry, Sebastien; Bernard, Delphine G

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies

CHD3相关Snijders-Blok-Campeau综合征表观遗传特征的鉴定揭示了CHARGE综合征表观遗传特征的异质性:朝着更好地表征染色质病变迈进

Santini, Amandine; Tognon, Angelo; Richard, Anne-Claire; Velasco, Guillaume; Phan, Gilles; Marzin, Pauline; Maury, Fabien; May, Angele; Michot, Caroline; Chirita-Emandi, Adela; Saraiva, Jorge M; Ballesta-Martinez, Maria Juliana; Lyonnet, Stanislas; Sansović, Ivona; Barakat, Tahsin Stefan; Brunelle, Perrine; Ghoumid, Jamal; Le Guillou, Xavier; Le Tanno, Pauline; Willems, Marjolaine; Zenker, Martin; Schanze, Ina; Moortgat, Stéphanie; Isidor, Bertrand; Paulet, Alix; Yeung, Alison; Levy, Jonathan; Ruscitti, Federica; Pias-Peleteiro, Leticia; Rio, Marlène; Courtin, Thomas; Abdallah, Hamza Hadj; Ducreux, Stéphanie; Laloy, Jean-Sérène; Rollier, Paul; Guerrot, Anne-Marie; Chatron, Nicolas; Demurger, Florence; Goldenberg, Alice; Delanne, Julian; Faivre, Laurence; Lecoquierre, François; Nicolas, Gaël; Coussement, Aurélie; Collet, Corinne; Herenger, Yvan; Defrance, Matthieu; Cormier-Daire, Valérie; Charbonnier, Camille; de Dieuleveult, Maud

De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder

RSF1基因的新生杂合变异是导致综合征性神经发育障碍的原因。

Jost, Céline; Busa, Tiffany; Wegner, Daniel; Shinawi, Marwan; Schaefer, Elise; Piton, Amélie; Schluth-Bolard, Caroline; Charles, Perrine; Keren, Boris; Mayerhanser, Katharina; Brunet, Theresa; Schatz, Ulrich; Neil, Jennifer E; Walsh, Christopher A; Sisco, Kathleen; J Paul, Alexander; Lee, Chung; Dykzeul, Natalie; Bonner, Devon; Bernstein, Jonathan A; Sutcliffe, Erin; Wentzensen, Ingrid M; Froehlich, Catherine; Liebler, Kaleigh; Galvin Parton, Patricia; Weiss-Burns, Jody; Sagnol, Chloé; Delanne, Julian; Racine, Caroline; Thauvin-Robinet, Christel; Safraou, Hana; Tran Mau-Them, Frédéric; Duffourd, Yannis; Bruel, Ange-Line; Faivre, Laurence

Should PNPO Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine Therapy

PNPO缺乏症是否应在子宫内治疗?产前吡哆醇治疗的临床发现

de Puyraimond, Chloé; Pichard, Samia; Girard, Muriel; Delanne, Julian; Faivre, Laurence; Imbard, Apolline; Baurand, Amandine; Benoist, Jean-François; Mills, Philippa B; Clayton, Peter T; Schiff, Manuel

Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate

肝细胞癌:吡哆醛磷酸治疗患者的严重并发症

Brands, Marion M; de Puyraimond, Chloé; Gospe, Sidney M Jr; Schiff, Manuel M; Jaeger, Bregje; Koot, Bart G; Raphael, Martine F; Lubout, Charlotte M; Soto, Bertrand; Delanne, Julian; Imbard, Apolline; Zempel, John; Kraal, Kathelijne C; Scheenstra, René; Clayton, Peter T

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder

临床、体外和体内证据表明,WAPL 是一种新的黏连蛋白病基因,也是 10q22.3q23.2 基因组疾病的表型驱动因素。

Boone, Philip M; Erdin, Serkan; Mohamed, Abucar; Haghshenas, Sadegheh; Faour, Kamli N W; Kao, Emeline; Fu, Jack; Auwerx, Chiara; Harripaul, Ricardo; Jana, Bimal; Springer, Danielle; Hallstrom, Grey; de Esch, Celine E F; Denhoff, Erica; Holmes, Lauren; Mohajeri, Kiana; Lemanski, John; Kerkhof, Jennifer; McConkey, Haley; Rzasa, Jessica; McCune, Madison J; Levy, Michael A; Grafstein, Julia; Larson, Matthew; Wright, Zsabre; Beauchamp, Roberta L; Lucente, Diane; Jamra, Rami Abou; Agrawal, Neena; Agrawal, Pankaj; Andersen, Erica F; Argilli, Emanuela; Araiza, Renee; Ballal, Sonia; Baxter, Megan F; Bergant, Gaber; Bertsche, Astrid; Bhavsar, Riya; Bortola, Debora R; Bothe, Viktoria; Brasch-Andersen, Charlotte; Braun, Dominique; Bruel, Ange-Line; Buchanan, Catherine; Burt, Nicholas D; Carvalho, Laura M L; Chiriatti, Luigi; Cogne, Benjamin; Collins, Ryan; Crunk, Amy; Currall, Benjamin; Delahaye-Duriez, Andree; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Devriendt, Koenraad; Domingo, Aloysius; Duncan, Laura; Faivre, Laurence; Famularo, Laura; Fulton, Anne; Genetti, Casie; Harel, Tamar; Havlovicova, Marketa; Higgs, Jenny; Houlier, Marine; Iascone, Maria; Immken, LaDonna; Isidor, Bertrand; Kaiser, Frank J; Karbone, Kaycee; Kenna, Margaret; Khan, Amjad; Kimmig, Lara Kristina; Kleefstra, Tjitske; Kraus, Eva-Maria; Krepischi, Ana C V; Krey, Ilona; Ladda, Roger; Lanoue, Louise; Le Caignec, Cedric; Lewis, Zoe K; Lima, Gloria; Lynch, Sally Ann; Macek, Milan Jr; Maier, Olivier; Maitz, Silvia; Male, Alison; Malikova, Marcela; McKay, Victoria; Moldovan, Oana; Monteil, Danielle; Oliveira, Mariana Moysés; Munasinghe, Jeeva; Nakamori, Sachiko; Neuser, Sonja; Nizon, Mathilde; Nuttle, Xander; O'Keefe, Kathryn; Orec, Laura; Parenti, Ilaria; Peterlin, Borut; Pfundt, Rolph; Pouncey, Jill; Radio, Francesca Clementina; Robert, Leema; Rodan, Lance; Rosenberg-Fogler, Hallel; Rosenfeld, Jill A; Safraou, Hana; Salani, Monica; Schliesske, Sophia; Seaby, Eleanor G; Sell, Susan; Eliot Shearer, A; Sherr, Elliott; Shillington, Amelle; Siebold, Dorothea; Sinnema, Margje; Smith, Laura; Stegmann, Alexander P A; Stevens, Cathy; Stevens, Servi; Surette, Eric; Tartaglia, Marco; Taylor, Jenny C; Thompson, Michelle L; Tørring, Pernille M; Mau Them, Frederic Tran; Tsoulaki, Olga; Umair, Muhammad; Vanhoutte, Els; Vincent, Marie; Vitobello, Antonio; von Wintzingerode, Lydia; Watt, Amy; Wayhelova, Marketa; Wentzensen, Ingrid M; Wilson, William; Wojcik, Monica H; Yuan, Bo; Zampino, Giuseppe; Srivastava, Siddharth; Westphal, Dominik S; Riedhammer, Korbinian M; Joyce, Eric; Yadav, Rachita; Gusella, James; Tai, Derek J C; Sadikovic, Bekim; Pfeifer, Karl E; Talkowski, Michael E

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

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia

PTBP1 变异体表现出核质分布改变,是导致伴有骨骼发育不良的神经发育障碍的原因。

Masson, Aymeric; Paccaud, Julien; Orefice, Martina; Colin, Estelle; Mäkitie, Outi; Cormier-Daire, Valérie; Relator, Raissa; Ghosh, Sourav; Strub, Jean-Marc; Schaeffer-Reiss, Christine; Marcelis, Carlo; Koolen, David A; Pfundt, Rolph; de Boer, Elke; Vissers, Lisenka Elm; Gardeitchik, Thatjana; Aarts, Lonneke Am; Rinne, Tuula; Terhal, Paulien A; Verbeek, Nienke E; Zuurbier, Linda C; Plomp, Astrid S; Wessels, Marja W; de Man, Stella A; Bouman, Arjan; Bird, Lynne M; Saadeh-Haddad, Reem; Guillen Sacoto, Maria J; Person, Richard; Gooch, Catherine; Hurst, Anna Ce; Thompson, Michelle L; Hiatt, Susan M; Littlejohn, Rebecca O; Roeder, Elizabeth R; Mori, Mari; Hickey, Scott E; Hunter, Jesse M; Lee, Kristy; Osman, Khaled; Halloun, Rana; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Wieczorek, Dagmar; Platzer, Konrad; Luppe, Johannes; Duplomb-Jego, Laurence; El It, Fatima; Duffourd, Yannis; Tran Mau-Them, Frédéric; Huber, Celine; Gordon, Christopher T; Taylan, Fulya; Mäkitie, Riikka E; Costantini, Alice; Valta, Helena; Robertson, Stephen; Poke, Gemma; Francoise, Michel; Ciolfi, Andrea; Tartaglia, Marco; Ekhilevitch, Nina; Zaid, Rinat; Levy, Michael A; Kerkhof, Jennifer; McConkey, Haley; Delanne, Julian; Chevarin, Martin; Vautrot, Valentin; Bourgeois, Valentin; Nguyen, Sylvie; Marle, Nathalie; Callier, Patrick; Safraou, Hana; Morgan, Angela; Amor, David J; Hildebrand, Michael S; Coman, David; Aubert Mucca, Marion; Thevenon, Julien; Laffargue, Fanny; Bilan, Frédéric; Pebrel-Richard, Céline; Yoon, Grace; Axford, Michelle M; Pérez-Jurado, Luis A; Sevilla-Porras, Marta; Black, Douglas L; Philippe, Christophe; Sadikovic, Bekim; Thauvin-Robinet, Christel; Olivier-Faivre, Laurence; Ori, Michela; Thomas, Quentin; Vitobello, Antonio

Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism

RAB3A杂合变异通过部分功能丧失机制导致小脑共济失调。

Hengel, Holger; Hannan, Shabab B; Reich, Selina; Beijer, Danique; Roller, Johanna; Gilsbach, Bernd K; Gloeckner, Christian Johannes; Greene, Daniel; Timmann, Dagmar; Depienne, Christel; Mumford, Andrew; O'Driscoll, Mary; Nemeth, Andrea H; Lundberg, Julie; Rodan, Lance H; Bruel, Ange-Line; Delanne, Julian; Deconinck, Tine; Baets, Jonathan; Gan-Or, Ziv; Rouleau, Guy; Suchowersky, Oksana; Estiar, Mehrdad A; Reich, Stephen; Toro, Camilo; Züchner, Stephan; Hazan, Jamilé; Pétursson, Hjörvar; Harmuth, Florian; Bauer, Claudia; Bauer, Peter; Turro, Ernest; Lambright, David; Schöls, Ludger; Synofzik, Matthis

Neuronal ALKAL2 and its ALK receptor contribute to the development of colitis-associated colorectal cancer.

神经元 ALKAL2 及其 ALK 受体促进结肠炎相关结直肠癌的发生发展

Delanne-Cuménal Mélissa, Defaye Manon, Delanne-Cuménal Améline, Ahmed Mansoor, Ho Valerie, Abdullah Nasser S, Alhassoun Mohamad, Svendsen Kristofer, Mager Lukas, Schlessinger Joseph, Hirota Simon, Altier Christophe