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

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

对snRNA基因的系统分析揭示了显性和隐性发育性脑病和癫痫性脑病中常见的RNU2-2变异。

Leitão, Elsa; Santini, Amandine; Cogne, Benjamin; Essid, Miriam; Athanasiadou, Maria; LaFlamme, Christy W; Marijon, Pierre; Bernard, Virginie; Jousselin, Kevin; Chatron, Nicolas; Barcia, Giulia; Keren, Boris; Mignot, Cyril; Charles, Perrine; Besnard, Thomas; Paluch, Robin; de Sainte Agathe, Jean-Madeleine; Almanza Fuerte, Edith P; Sengupta, Soham; Milh, Mathieu; Ramond, Francis; Allan, Talia; An, Isabelle; Araujo, Camila; Arpin, Stéphanie; Austin-Tse, Christina; Auvin, Stéphane; Baer, Sarah; Bahi-Buisson, Nadia; Bak, Mads; Barth, Magalie; Baulac, Stéphanie; Bednarek-Weirauch, Nathalie; Begemann, Matthias; Bennett, Mark F; Bensabath, Uriel; Bézieau, Stéphane; Bhouri, Rakia; Biehler, Margaux; Hammer, Trine Bjørg; Bogoin, Julie; Bonanno, Emilie; Boussion, Simon; Bris, Céline; Brosseau-Beauvir, Adelaide; Bruel, Ange-Line; Briand-Suleau, Audrey; Buratti, Julien; Celse, Tristan; Chambon, Pascal; Chemaly, Nicole; Chesneau, Bertrand; Colin, Estelle; Colmard, Maxime; Colson, Cindy; Conrad, Solène; Courtin, Thomas; Creveaux, Isabelle; Cullier, Anne-Charlotte; Dang, Louis T; de Saint Martin, Anne; de Vanssay de Blavous Legendre, Caroline; Demeer, Bénédicte; Denommé-Pichon, Anne-Sophie; Diekhoff, Philine; DiTroia, Stephanie; Doco-Fenzy, Martine; Dubourg, Christèle; Dubucs, Charlotte; Ducreux, Stéphanie; Dufour, Louis; Duquet, Romain; Durand, Benjamin; El Chehadeh, Salima; Elbracht, Miriam; Faivre, Laurence; Faoucher, Marie; Faudet, Anne; Forlani, Sylvie; Fradin, Mélanie; Gaignard, Pauline; Ganne, Benjamin; Garde, Aurore; Géraud, Justine; Gill, Deepak; Goldenberg, Alice; Grabli, David; Grisel, Coraline; Gueden, Sophie; Gueguen, Paul; Guerrot, Anne-Marie; Guichet, Agnès; Haack, Tobias B; Härting, Nina; Häusler, Martin Georg; Heide, Solveig; Herget, Theresia; Héron, Bénédicte; Héron, Delphine; Herwig, Johanna; Heulin, Mathilde; Holling, Tess; Houdayer, Clara; Isidor, Bertrand; Jacquette, Aurélia; Januel, Louis; Jean-Marçais, Nolwenn; Kaiser, Frank J; Kaya, Sabine; King, Chontelle; Konyukh, Marina; Kraft, Florian; Krause, Jeremias; Kirstetter, Rémi; Kuechler, Alma; Kurth, Ingo; Kutsche, Kerstin; Labalme, Audrey; Laloy, Jean-Serene; Laugel, Vincent; Le Bricquir, Floriane; Lèbre, Anne-Sophie; Lebrun, Marine; Leguern, Eric; Levy, Jonathan; Lieffering, Nico; Lyonnet, Stanislas; Lüthy, Kevin; Macdonald, Sian M W; Mansour-Hendili, Lamisse; Maraval, Julien; Marquardt, Iris; Mattausch, Carolin; Mercier, Sandra; Messaoud, Olfa; Morel, Godelieve; Mortreux, Jérémie; Munnich, Arnold; Nabbout, Rima; Nambot, Sophie; Navarro, Vincent; Neale, Ashana; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; O'Leary, Melanie C; Odent, Sylvie; Ojeda, Naomi Meave; Olin, Valérie; Olivieri, Simone; Õunap, Katrin; Pais, Lynn S; Panagiotakaki, Eleni; Patat, Olivier; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Piton, Amélie; Planes, Marc; Poirsier, Céline; Pouzet, Antoine; Prouteau, Clément; Quéméner-Redon, Sylvia; Renaud, Mathilde; Richard, Anne-Claire; Rio, Marlène; Rivier, Clotilde; Robin-Renaldo, Florence; Rollier, Paul; Rossi, Massimiliano; Roubertie, Agathe; Ruault, Valentin; Rupin-Mas, Maïlys; Saugier-Veber, Pascale; Saunier, Aline; Saneto, Russell; Sarrazin, Elisabeth; Sarret, Catherine; Schaefer, Elise; Schluth-Bolard, Caroline; Schneider, Amy; Schumann, Isabell; Seplyarskiy, Vladimir B; Spranger, Stephanie; Smol, Thomas; Sturm, Marc; Sunyaev, Shamil R; Sperelakis-Beedham, Brian; Stenton, Sarah L; Stock, Friedrich; Tharreau, Mylène; Torun, Deniz; Toulouse, Joseph; Thiyagarajah, Harshini; Valence, Stéphanie; Valleix, Sophie; Van-Gils, Julien; Villard, Laurent; Ville, Dorothée; Villeneuve, Nathalie; Vitobello, Antonio; Waernessyckle, Aurélie; Wagner, Jan; Weber, Yvonne; Wieczorek, Dagmar; Witkowski, Tom; Yadavilli, Manya; Yammine, Tony; Zaafrane-Khachnaoui, Khaoula; Zaki, Maha S; Ziegler, Alban; Bramswig, Nuria C; Lermine, Alban; Nicolas, Gael; Gleeson, Joseph G; Sadleir, Lynette G; Hildebrand, Michael S; Scheffer, Ingrid E; Whiffin, Nicola; O'Donnell-Luria, Anne; Mefford, Heather C; Blanc, Pierre; Thevenon, Julien; Charbonnier, Camille; Charenton, Clément; Depienne, Christel; Lesca, Gaetan; Nava, Caroline

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia

CAPN1激活因子CD99L2的功能缺失变异会导致X连锁痉挛性共济失调。

Menden, Benita; Incebacak Eltemur, Rana D; Demidov, German; Sturm, Marc; Park, Joohyun; Huridou, Chrisovalantou; Fath, Florian; Nümann, Astrid; Baumann, Alexander; Diets, Illja J; Dufke, Claudia; Regensburger, Martin; Rönnefarth, Maria; Wilke, Vera; van Os, Nienke; Vielhaber, Stefan; Rattay, Tim W; Kohl, Zacharias; Peralta, Susana; Pereira Sena, Priscila; Kellner, Melanie; Weissert, Nadine; Traschütz, Andreas; Zeltner, Lena; Boelmans, Kai; Deininger, Natalie; Schütz, Leon; Gross, Caspar; Hinojosa Amaya, Ana Beatriz; Raupach, Katrin; Hengel, Holger; Harmuth, Florian; Admard, Jakob; Bader, Ingrid; Baumann, Sarah; Bender, Friedemann; Bevot, Andrea; Bischoff, Almut; Boschann, Felix; Buchert, Rebecca; Buchzik, Daniel; Casadei, Nicolas; Catarino, Claudia B; Cordts, Isabell; Cremer, Kirsten; Doebler-Neumann, Marion; Ehmke, Nadja; Elbracht, Miriam; Falb, Ruth J; Feindt, Thomas; Fleszar, Zofia; Gerstner, Lea; Gläser, Dieter; Grasshoff, Ute; Grosch, Sarah; Grundmann, Kathrin; Gutschalk, Alexander; Haaga, Manja; Hayer, Stefanie; Hehr, Ute; Hellenbroich, Yorck; Henn, Wolfram; Herr, Barbara; Herzog, Rebecca; Horber, Veronka; Deppe, Jonas; Kaiser, Nadja; Kehrer, Christiane; Kehrer, Martin; Kern, Jan; Keßler, Christoph; Khuller, Katharina; Klinkhammer, Hannah; Kotzaeridou, Urania; Krawitz, Peter; Kreiss, Martina; Küpper, Hanna; Kuster, Alice; Laugwitz, Lucia; Lesemann, Anne; Lichey, Nadine; Linden, Tobias; Macek, Boris; Magg, Janine; Mangold, Elisabeth; Manka, Eva; Marquardt, Iris; Mehnert, Karl; Mengel, David; Morlot, Susanne; Oehl-Jaschkowitz, Barbara; Pauly, Martje G; Philipp, Melanie; Radelfahr, Florentine; Rautenberg, Maren; Riess, Angelika; Saft, Carsten; Schlotter-Weigel, Beate; Schmidt, Axel; Schwaibold, Eva M C; Spahlinger, Veronika; Spranger, Stephanie; Steiner, Katharina Marie; Stendel, Claudia; Thieme, Andreas; Tzschach, Andreas; Velic, Ana; Wiethoff, Sarah; Wilke, Carlo; Züchner, Stephan; Zittel, Simone; Husain, Ralf A; Deschauer, Marcus; Distelmaier, Felix; Dufke, Andreas; Graessner, Holm; Hemmer, Bernhard; Jacobi, Heike; Klockgether, Thomas; Klopstock, Thomas; Kobeleva, Xenia; Korenke, Georg-Christoph; Kuechler, Alma; Kuhlenbäumer, Gregor; Kurth, Ingo; Nguyen, Huu Phuc; Wunderlich, Gilbert; Zeuner, Kirsten E; Klebe, Stephan; Auer-Grumbach, Michaela; Butryn, Michaela; Winkler, Jürgen; Timmann, Dagmar; Synofzik, Matthis; van de Warrenburg, Bart; Schüle, Rebecca; Schöls, Ludger; Ossowski, Stephan; Riess, Olaf; Weber, Jonasz J; Haack, Tobias B

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

黏连蛋白装载亚基 MAU2 的致病变异是 Cornelia de Lange 综合征的一个独特亚型的根本原因。

Parenti Ilaria, Hesters Alina, Gil-Salvador Marta, Duffy Laura, Kanber Deniz, Beygo Jasmin, Kerkhof Jennifer, Steenpaß Laura, Leitão Elsa, Woestefeld Julia, Boone Philip M, Kao Emeline M, Alabdi Lama, Aldhalaan Hesham M, Alkuraya Fowzan S, Alshammari Muneera J, Antonarakis Stylianos E, Basel Donald, Cassinari Kevin, de Polli Cellin Laurana, Clause Amanda R, de Lima Jorge Alexander Augusto, de Castro Leal Andréa, Collins Stephan C, Durand Benjamin, Eckhold Juliane, Hashem Mais O, Jayakar Parul, Khan Arif O, Kato Kohji, Kubica Regina, Lyon Gholson J, Marchi Elaine, McCarrier Julie, Kimmig Lara K, Mizuno Seiji, Nicolas Gael, Nishio Yosuke, Ogi Tomoo, Pié Juan, Prell Jordyn, Puisac Beatriz, Ramos Feliciano J, Ranza Emmanuelle, Redin Claire, Rush Eric, Saitoh Shinji, Shamseldin Hanan E, Starling Susan, Astiazaran-Symonds Esteban, Eltahir Sara H, Kuechler Alma, Sadikovic Bekim, Yalcin Binnaz, Wendt Kerstin S, Kaiser Frank J

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

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

作者更正:将新一代表型分析技术整合到国家层面的超罕见病患者诊疗框架中,可改进基因诊断并产生新的分子发现。

Schmidt, Axel; Danyel, Magdalena; Grundmann, Kathrin; Brunet, Theresa; Klinkhammer, Hannah; Hsieh, Tzung-Chien; Engels, Hartmut; Peters, Sophia; Knaus, Alexej; Moosa, Shahida; Averdunk, Luisa; Boschann, Felix; Sczakiel, Henrike Lisa; Schwartzmann, Sarina; Mensah, Martin Atta; Pantel, Jean Tori; Holtgrewe, Manuel; Bösch, Annemarie; Weiß, Claudia; Weinhold, Natalie; Suter, Aude-Annick; Stoltenburg, Corinna; Neugebauer, Julia; Kallinich, Tillmann; Kaindl, Angela M; Holzhauer, Susanne; Bührer, Christoph; Bufler, Philip; Kornak, Uwe; Ott, Claus-Eric; Schülke, Markus; Nguyen, Hoa Huu Phuc; Hoffjan, Sabine; Grasemann, Corinna; Rothoeft, Tobias; Brinkmann, Folke; Matar, Nora; Sivalingam, Sugirthan; Perne, Claudia; Mangold, Elisabeth; Kreiss, Martina; Cremer, Kirsten; Betz, Regina C; Mücke, Martin; Grigull, Lorenz; Klockgether, Thomas; Spier, Isabel; Heimbach, André; Bender, Tim; Brand, Fabian; Stieber, Christiane; Morawiec, Alexandra Marzena; Karakostas, Pantelis; Schäfer, Valentin S; Bernsen, Sarah; Weydt, Patrick; Castro-Gomez, Sergio; Aziz, Ahmad; Grobe-Einsler, Marcus; Kimmich, Okka; Kobeleva, Xenia; Önder, Demet; Lesmann, Hellen; Kumar, Sheetal; Tacik, Pawel; Bhasin, Meghna Ahuja; Incardona, Pietro; Lee-Kirsch, Min Ae; Berner, Reinhard; Schuetz, Catharina; Körholz, Julia; Kretschmer, Tanita; Di Donato, Nataliya; Schröck, Evelin; Heinen, André; Reuner, Ulrike; Hanßke, Amalia-Mihaela; Kaiser, Frank J; Manka, Eva; Munteanu, Martin; Kuechler, Alma; Cordula, Kiewert; Hirtz, Raphael; Schlapakow, Elena; Schlein, Christian; Lisfeld, Jasmin; Kubisch, Christian; Herget, Theresia; Hempel, Maja; Weiler-Normann, Christina; Ullrich, Kurt; Schramm, Christoph; Rudolph, Cornelia; Rillig, Franziska; Groffmann, Maximilian; Muntau, Ania; Tibelius, Alexandra; Schwaibold, Eva M C; Schaaf, Christian P; Zawada, Michal; Kaufmann, Lilian; Hinderhofer, Katrin; Okun, Pamela M; Kotzaeridou, Urania; Hoffmann, Georg F; Choukair, Daniela; Bettendorf, Markus; Spielmann, Malte; Ripke, Annekatrin; Pauly, Martje; Münchau, Alexander; Lohmann, Katja; Hüning, Irina; Hanker, Britta; Bäumer, Tobias; Herzog, Rebecca; Hellenbroich, Yorck; Westphal, Dominik S; Strom, Tim; Kovacs, Reka; Riedhammer, Korbinian M; Mayerhanser, Katharina; Graf, Elisabeth; Brugger, Melanie; Hoefele, Julia; Oexle, Konrad; Mirza-Schreiber, Nazanin; Berutti, Riccardo; Schatz, Ulrich; Krenn, Martin; Makowski, Christine; Weigand, Heike; Schröder, Sebastian; Rohlfs, Meino; Vill, Katharina; Hauck, Fabian; Borggraefe, Ingo; Müller-Felber, Wolfgang; Kurth, Ingo; Elbracht, Miriam; Knopp, Cordula; Begemann, Matthias; Kraft, Florian; Lemke, Johannes R; Hentschel, Julia; Platzer, Konrad; Strehlow, Vincent; Abou Jamra, Rami; Kehrer, Martin; Demidov, German; Beck-Wödl, Stefanie; Graessner, Holm; Sturm, Marc; Zeltner, Lena; Schöls, Ludger J; Magg, Janine; Bevot, Andrea; Kehrer, Christiane; Kaiser, Nadja; Turro, Ernest; Horn, Denise; Grüters-Kieslich, Annette; Klein, Christoph; Mundlos, Stefan; Nöthen, Markus; Riess, Olaf; Meitinger, Thomas; Krude, Heiko; Krawitz, Peter M; Haack, Tobias; Ehmke, Nadja; Wagner, Matias

Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development

整合复合物亚基INTS6的破坏会导致神经发育障碍,并损害神经发生和突触发育。

Peng, Xiaoxia; Jia, Xiangbin; Wang, Hanying; Chen, Jingjing; Zhang, Xiaolei; Tan, Senwei; Duan, Xinyu; Qiu, Can; Hu, Mengyuan; Hou, Haiyan; Parenti, Ilaria; Kuechler, Alma; Kaiser, Frank J; Renck, Alicia; Caylor, Raymond; Skinner, Cindy; Peeden, Joseph; Cogne, Benjamin; Isidor, Bertrand; Mercier, Sandra; Nicolas, Gael; Guerrot, Anne-Marie; Faletra, Flavio; Musante, Luciana; Cohen, Lior; Bergant, Gaber; Čuturilo, Goran; Peterlin, Borut; Seeley, Andrea; Bachman, Kristine; Martinez-Agosto, Julian A; van Ravenswaaij-Arts, Conny; Bos, Dennis; Kim, Katherine H; Bartolomaeus, Tobias; Schmederer, Zelia; Abou Jamra, Rami; Aref-Eshghi, Erfan; Zhao, Wenjing; Zou, Yongyi; Hu, Zhengmao; Pan, Qian; Li, Faxiang; Chen, Guodong; Li, Jiada; Hu, Zhangxue; Xia, Kun; Tan, Jieqiong; Guo, Hui

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

DNA结合亲和力和特异性决定了BCL11B相关疾病的表型多样性

Lessel, Ivana; Baresic, Anja; Chinn, Ivan K; May, Jonathan; Goenka, Anu; Chandler, Kate E; Posey, Jennifer E; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; Calle-Martín, Oscar de la; Capra, Valeria; Cardenas, Paul; Chappé, Céline; Chong, Hey J; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christèle; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K; Gangi, Silvana; George-Abraham, Jaya K; Gucsavas-Calikoglu, Muge; Haack, Tobias B; Hadonou, Medard; Hanker, Britta; Hüning, Irina; Iascone, Maria; Isidor, Bertrand; Järvelä, Irma; Jin, Jay J; Jorge, Alexander A L; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Kölbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M; Leppälä, Juha; Luu, Sharon M; Lyon, Gholson J; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K G; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R; Tolosa, Eva; Lessel, Davor

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability

PRMT9基因双等位基因功能缺失变异会导致一种综合征型智力障碍。

Kröll-Hermi, Ariane; Stoetzel, Corinne; Etard, Christelle; Halabelian, Levon; Schaefer, Elise; Scheidecker, Sophie; Kahrizi, Kimia; Payman, Jamali; Geoffroy, Véronique; Prasad, Megana; Obringer, Cathy; Ruch, Laurie; Girard, Amandine; Zeng, Hong; Li, Fengling; Plassard, Damien; Keime, Céline; Mattioli, Francesca; Feger, Claire; Piton, Amélie; Fujita, Atsushi; Matsumoto, Naomichi; Castro, Matheus Augusto Araujo; Ae, Kim Chong; Ruaud, Lyse; Levy, Jonathan; Dozières, Blandine; Tabet, Anne-Claude; Wentzensen, Ingrid M; Santiago-Sim, Teresa; Yusupov, Roman; Tveten, Kristian; Smeland, Marie Falkenberg; Alkhunaizi, Ebba; Cowing, Gina; Li, Chumei; Wortmann, Saskia B; Feichtinger, René G; Mayr, Johannes A; Gonorazky, Herman; Jing, Gan; Wang, Xiaodong; Wang, Jia; Bierhals, Tatjana; Grinstein, Lev; Herget, Theresia; Ruiz, Anna; Gabau, Elisabeth; Kampmeier, Antje; Kassel, Olivier; Kuechler, Alma; Platzer, Konrad; Jamra, Rami Abou; Woerner, Audrey; Idleburg, Michaela; Kircher, Susanne Gerit; Laccone, Franco; Golob, Barbara; Peterlin, Borut; Čuturilo, Goran; Tasic, Velibor; Kolvenbach, Caroline M; Hildebrandt, Friedhelm; Ramos, Luiza L P; Kok, Fernando; Buck, Cecilia Barbosa; van de Laar, Ingrid M B H; de Man, Stella A; Taşdelen, Elifcan; Sezer, Abdullah; Büke, Afife; Yavuz, Zehra; Çomoğlu, Selim Selçuk; Costin, Carrie; Tran Mau Them, Frédéric; Lacaze, Elodie; Courtin, Thomas; Héron, Delphine; Keren, Boris; Whalen, Sandra; Roume, Joelle; Yang, Yanzhong; Hoffer, Mariëtte J V; van Haeringen, Arie; Najmabadi, Hossein; Arrowsmith, Cheryl H; Strähle, Uwe; Dollfus, Hélène; Muller, Jean

Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder.

SNAPIN 基因编码逆行动力蛋白衔接蛋白,其双等位基因有害变异会导致产前发病的神经发育障碍。

Yousaf Hammad, de Koning Maayke A, Khan Kamal, Gilmore Kelly L, Hoffer Mariëtte J V, Kellaris Georgios, Lanone Sophie, Dagouassat Maylis, Ullah Farid, Adama van Scheltema Phebe N, Heron Delphine, Capri Yline, Kuechler Alma, Schweiger Bernd, Haak Monique C, Keren Boris, Tran Mau Them Frederic, Peeters-Scholte Cacha M P C D, Kaiser Frank J, Koopmann Tamara T, Mei Hailiang, Yalcin Binnaz, Depienne Christel, Vora Neeta L, Santen Gijs W E, Davis Erica E

Impact of pre-procedural atrial fibrillation burden on recurrences after ablation: findings from the ISOLATION cohort study

术前房颤负荷对消融术后复发的影响:来自 ISOLATION 队列研究的发现

Althoff, Till F; Mont, Lluís; Ventosa, O; Guichard, J B; Molero-Pereira, S; Regany-Closa, M; Garre, P; Vazquez-Calvo, S; Pellicer, B; Serrano-Campaner, J; Borras, R; Guasch, E; Tolosana, J M; Mont, L; Porta-Sanchez, A; Roca-Luque, I; Johnson, V J; Post, F P; Kupusovic, J K; Gold, C G; Culmann, D P C; Falagkari, A F; Erath-Honold, J W E; Leistner, D M L; Wakili, R W; Pannone, L; Audiat, C; Giron, P; Della Rocca, D G; Overeinder, I; Bala, G; Almorad, A; Stroker, E; La Meir, M; Gharaviri, A; Brugada, P; Sarkozy, A; Chierchia, G B; Sieira, J; De Asmundis, C; Rossillo, A; Solimene, F; Tondo, C; Themistoclakis, S; Bertini, M; Rordorf, R; Magnocavallo, M; Arestia, A; Casella, M; Tundo, F; Vittadello, S; Albano, C; Malacrida, M; Grifoni, G; Dello Russo, A; Boel, T; Peeters, S Y G; Hemels, M E W; Samim, M; Koomen, E M; Houtgraaf, J; Bootsma, M; Jukema, J W; Van Zoelen, A B; De Jong, J S Y; De Groot, J R; Dijkgraaf, M G W; Tijssen, G P T; De Lange, F J; Navarro-Pelayo Torres, I; Fokina, T; Sanchez-Moreno, J M; Garcia-Mochon, L; Molina-Lerma, M; Gutierrez-Ballesteros, G; Frutos-Lopez, M; Pavon-Jimenez, R; Jimenez-Jaimez, J; Alvarez-Lopez, M; Huang, T A I Y U A; Xu, Q X; Anton, M A; Trenk, D T; Arentz, T A; Loewe, A L; Jadidi, A; Van Der Graaf, M; Abeln, B G S; Musat, D; Gunawardene, M; Nair, D G; Knight, B P; Wilsmore, B; Liebregts, M; Van Dijk, V F; Wijffels, M C E F; Balt, J C; Mittal, S; Peigh, G; Malaty, M; Boersma, L V A; D Angelo, L; Compagnucci, P C; Volpato, G V; Parisi, Q P; Cipolletta, L C; Valeri, Y V; Campanelli, F C; Finori, L F; Guerra, F G; Pelargonio, G P; Dello Russo, A D R; Narducci, M L N; Casella, M C; Wenzel, J; Vogler, J V; Eitel, C E; Nikorowitsch, J; Mamaev, R; Popescu, S; Hatahet, S; Yaman, E; Kuechler, M; Kuck, K H; Tilz, R; Carboni, L; Tondo, C; Rossillo, A; Polselli, M; Themistoclakis, S; Dello Russo, A; Volpicelli, M; Maggio, R; Bertini, M; De Simone, A; Tola, G; Segreti, L; Casella, M; Malacrida, M; Iacopino, S; Hansky, B; Crossley, G H; Mason, P K; Sanders, P; Shah, M J; Ando, K; Camos, I A; Defaye, P; Mihalcz, A; Whinnett, Z; Lopes Do Carmo, P M; Denman, R; Maus, B; Thompson, A E; De Filippo, P; Linderhof, M H C; Freriks, A I; Van Schie, M S; Taverne, Y J H J; De Groot, N M S; Van Den Bosch, A E; Tilz, R; Chierchia, G; Sanders, P; Neuzil, P; Kalman, J; Puererfellner, H; Loh, P; Osca Asensi, J; Healy, S; Haqqani, H; Knecht, S; Upadhyay, G A; Cornelussen, R; Jastrzebski, M; Foley, P; Chandrasekaran, B; Whinnett, Z; Schaller, R; Gardas, R; Richardson, T; Kudlik, D; Burrell, J; Zimmerman, P; Lyne, J; Herweg, B; Vijayaraman, P; Blanck, O; Zaman, A; Krug, D; Grehn, M; Boda-Heggemann, J; Rudic, B; Mehrhof, F; Boldt, L H; Hohmann, S; Merten, R; Corradini, S; Sinner, M F; Rades, D; Lian, E; Tilz, R R; Syvaeri, J; Erhard, N; Englert, F; Popa, M; Krafft, H; Tunsch-Martinez, A; Tydecks, M; Telishevska, M; Koops, E; Dischel, D; Reiter, T; Lengauer, S; Hessling, G; Deisenhofer, I; Bahlke, F; Pestrea, C; Cicala, E; Ortan, F; Santos, E; Nunes, F; Lobo, A; Oliveira, C; Rosas, F; Castro, P; Braga, J; Campos, A; Gomes, D; Almeida, J; Oliveira, M; Goncalves, H; Saraiva, F; Primo, J; Fontes Carvalho, R; Mazetto Silva Vieira, R; Bulhoes, E; Antunes, V L J; Defante, M L R; Garcez, L P C F; Bastos, E; Pinto, M V; Guerreiro, I; Farias, C A G; Ximenes, P N; Sousa, P A M G; Oliveira, V M R; Bueno, B V K; Fernandes, F; Darrieux, F C; Dittrich, S; De Riva, M; Elmasry, N; Trines, S; Piers, S; Alizadeh Dehnavi, R; Bootsma, M; Barge-Schaapveld, D; Zeppenfeld, K; Wijnmaalen, A P; Aminolsharieh Najafi, S; Schaack, D; Bordignon, S; Urbani, A; Kheir, J; Garattini, D; Steyer, A; Tohoku, S H; Schmidt, B; Chun, K R J; Urbanek, L; Mei, D A; Romiti, G F; Vitolo, M; Imberti, J F; Mantovani, M; Corica, B; Bonini, N; Diemberger, I; Dan, G A; Potpara, T; Proietti, M; Lip, G Y H; Boriani, G; Estevez Paniagua, A; Briongos Figuero, S; Tapia Martinez, M; Jimenez Loeches, S; Sanchez Hernandez, A; Sanchez Lopez, E; Luna Cabadas, A; Heredero Palomo, D; Munoz Aguilera, R; Gawalko, M; Habibi, Z; Verhaert, D V M; Weerts, J; Adriaans, B; Chaldoupi, S M; Ter Bekke, R; Den Uijl, D W; Luermans, J G L M; Van Empel, V P M; Schotten, U; Vernooy, K; Linz, D; Van Schie, M S; Zwijnenburg, R D; Linderhof, M H C; Dai, L; Zhang, C; Taverne, Y J H J; Van Den Bosch, A E; De Groot, N M S; Wang, R W; Gupta, S G; Imperato, J I; Valladares, A F V; Jawla, S J; Smolnik, R S; Chen, C C; Unverdorben, M U; Xin Ye, X Y; Bruggenjurgen, B B; Patti, G P; Brown, S; Moore, H; Dayer, M; Furniss, G; Van Koll, J; Luermans, J G L; Rademakers, L M F; Burri, H; Bressi, E; Curila, K; Grieco, D; Van Kuijk, S M J; Rijks, J H J; Smits, K; Joza, J; Vernooy, K; Nguyen, U C; Maan, A; Neff, R N; Newman, S N; Van De Leur, R L; Mann, A M; Vashistha, K V; Shneyderman, M S; Musikantow, D M; Turagam, M T; Koruth, J K; Miller, M M; Whang, W W; Lampert, J L; Dukkipati, S D; Reddy, V R; Briongos Figuero, S; Estevez Paniagua, A; Tapia Martinez, M; Jimenez Loeches, S; Sanchez Hernandez, A; Heredero, D; Sanchez Lopez, E; Luna Cabadas, A; Ozgul, O; Habibi, Z; Verhaert, D V M; Hermans, B J M; Philippens, S A M; Chaldoupi, S M; Maesen, B; Isaacs, A; Westra, S W; Nijveldt, R; Bonizzi, P; Linz, D; Vernooy, K; Zeemering, S; Schotten, U; Mcintyre, W F; Chong, M; Devereaux, P J; Brady, K; Bashir, S; Sun, T; Lamy, A; Roberts, J D; Pare, G; Chan, M T V; Wang, C Y; Singh, A; Belley-Cote, E P; Whitlock, R P; Spence, J D; Popescu, S S; Puererfellner, H; Kuck, K H; Xiang, K; Uzunoglu, E; Heeger, C H; Vogler, J; Tandri, H; Assis, F; Shantha, G; Merino, J L; Catanzaro, J N; Tilz, R R; Newman, S N; Van De Leur, R L; Neff, R N; Chadha, S C; Mann, A M; Li, K L; Musikantow, D M; Turagam, M T; Whang, W W; Koruth, J K; Lampert, J L; Dukkipati, S D; Reddy, V R; Maan, A; Stoks, J; Groeneveld, S A; Van Rees, B; Verheul, L M; Hassink, R J; Ter Bekke, R M A; Cluitmans, M J M; Volders, P G A; Heil, E; Gerds-Li, J H; Boldt, L H; Blaschke, F; Schoeppenthau, D; Parwani, A; Hindricks, G; Hohendanner, F; Betz, K; Verhaert, D V M; Gawalko, M; Skrzypek, M; Habibi, Z; Homberg, M; Hol, B; Venekamp, L; Crijns, A; Hendriks, J; Schotten, U; Vernooy, K; Linz, D; Schillaci, V; Rossi, P; Iacopino, S; Dello Russo, A; Tondo, C; Sanzo, A; Solimene, F; Maggio, R; Russo, M; Argiolas, D; Zingarini, G; Di Cori, A; Stegagno, B; Malacrida, M; Rordorf, R; Xavier, E; Rosa Filho, A A M; Rosa, A A M; Rosa, A W; Xavier, M C S; Bulhoes, M B C; Cavalcante, L B; Torres, L V; Motta, R F O S; Pedrosa, A H; Pedrosa, L H; Angelo, L; Silva, J F; Fernandes, F; Kerkouri, F; Eschalier, R; Marquie, C; Probst, V; Mansourati, J; Badenco, N; Behar, N; Hourdain, J; Jacon, P; Jesel, L; Mondoly, P; Mansourati, V; Garcia, R; Boveda, S; Marijon, E; Milz, S M; Popa, M P; Bahlke, F B; Lengauer, S L; Trenkwalder, T T; Englert, F E; Erhard, N E; Krafft, H K; Tunsch Martinez, A T; Bicprendi, P B; Hessling, G H; Deisenhofer, I D; Reiter, T R; Hesham Tarek, H T; Hayam Mohamed El Damnhoury, H D; Haitham Abdelfattah Badran, H B; Ahmed Gamal Eldin Mohammed Elewa, A G; Mohamed Ahmed Ali Kotb Moussa, M M; John Kamel Zarif, J K; Castrejon Castrejon, S; Sanz Verdejo, B S V; Maria Victoria Rossa, M V R; Marcel Martinez Cossiani, M M C; Paula Sanchez Somonte, P S S; Maria Eugenia Martinez Maldonado, M M M; Davide Sorice, D S; Raul Moreno, R M; Jose Luis Merino, J L M; Van Doorn, E C H; Zhang, L; Veen, K M; De Groot, N M S; Taverne, Y J H J; Van Pouderoijen, N; Hopman, L H G A; Wentrup, L E; De Groot, J R; Kemme, M J B; Allaart, C P; Gotte, M J W; Hermans, B J M; Farnir, F I P; Bijvoet, G P; Jerltorp, K; Larsen, B S; Holtackers, R J; Mihl, C; Schotten, U; Vernooy, K; Luermans, J G L M; Chaldoupi, S M; Linz, D; Deissler, P; Obeidat, M; Andrade, I; Hutchings, D C; Venetucci, L A; Ter Bekke, R M A; Volders, P G A; Trafford, A W; Huang, T A I Y U A; Anton, M A; Loewe, A L; Xu, Q X; Trenk, D T; Arentz, T A; Jadidi, A J; Gerrits, W; Wouters, P C; Chiu, C S L; Guglielmo, M; Cramer, M J; Van Der Harst, P; Vernooy, K; Van Stipdonk, A M W; Van Halm, V P; Van Dijk, V F; Ghani, A; Maass, A; Yap, S C; Van Slochteren, F J; Meine, M; Burger, J C; Hopman, L H G A; Allaart, C P; Postema, P G; Kemme, M J B; Gotte, M J W; Bishop, M J; Van Halm, V P; Bhagirath, P; Briongos Figuero, S; Estevez Paniagua, A; Tapia Martinez, M; Jimenez Loeches, S; Sanchez Hernandez, A; Heredero, D D; Sanchez Lopez, E; Luna Cabadas, A; Munoz Aguilera, R; Frausing, M H J; Van De Lande, M; Linz, D; Crijns, H J G M; Tieleman, R G; Hemels, M E W; De Melis, M; Schotten, U; Kronborg, M B; Nielsen, J C; Van Gelder, I C; Rienstra, M; Samuel, M; La Fazia, V; Nicola Pierucci, N P; Paolo Compagnucci, P C; Marco Schiavone, M S; Carola Gianni, C G; Sanghamitra Mohanty, S M; Preem Geeta Torlapati, P G T; Domenico Giovanni Della Rocca, D G D R; Weeranun Bode, W B; Amin Al-Ahmad, A A A; Rodney Horton, R H; Luigi Di Biase, L D B; Claudio Tondo, C T; Antonio Dello Russo, A D R; Andrea Natale, A N; Hopman, L H G; Schrauben, E M; Nelissen, J L; Reitzema, P J; Van Luijk, R D; Koster, M; Smeets, B L M; Boekhoven, R W; Sunnarborg, D; Smink, J; Niessen, J W M; Allaart, C P; Nederveen, A J; Gotte, M J W; Van Pouderoijen, N; Hopman, L H G A; Wentrup, L E; De Groot, J R; Kemme, M J B; Allaart, C P; Gotte, M J W; Deissler, P; Stoks, J; Cluitmans, M J M; Gommers, S; Helderman-Van Den Enden, A; Volders, P G A; Ter Bekke, R M A; Thong, T; Nguyen-Duy, T; Nguyen-Huu, D; Truong, K N; Nguyen-Lien, N; Nguyen, C T; Vuong-Dinh, C; Vu-Manh, T; Hoang-Phuong, N; Nguyen-Duy, T; Le, T; Nguyen-Vu, P; Hoang-Anh, T; Huynh, M; Mazetto Silva Vieira, R; Bulhoes, E; Antunes, V L J; Defante, M L R; Feitosa, L P G; Pinto, M V; Farias, C A G; Oliveira, V M R; Ximenes, P N; Guida, C; Bueno, B V K; Fernandes, F; Darrieux, F C; Gawalko, M; Habibi, Z; Verhaert, D V M; Adriaans, B; Chaldoupi, S M; Ter Bekke, R M A; Den Uijl, D W; Luermans, J G L M; Van Empel, V P M; Schotten, U; Vernooy, K; Linz, D; Habibi, Z; Verhaert, D V M; Betz, K; Hermans, B J M; Philippens, S; Chaldoupi, S M; Maesen, B; Maessen, J G; Isaacs, A J; Westra, S W; Nijveldt, R; Zeemering, S; Vernooy, K; Linz, D; Schotten, U