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

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

Transferability of European-derived Alzheimer's disease polygenic risk scores across multiancestry populations

欧洲人群阿尔茨海默病多基因风险评分在不同族裔人群中的适用性

Nicolas, Aude; Sherva, Richard; Grenier-Boley, Benjamin; Kim, Yoontae; Kikuchi, Masataka; Timsina, Jigyasha; de Rojas, Itziar; Dalmasso, María Carolina; Zhou, Xiaopu; Le Guen, Yann; Arboleda-Bustos, Carlos E; Camargos Bicalho, Maria Aparecida; Guerchet, Maëlenn; van der Lee, Sven; Goss, Monica; Castillo, Atahualpa; Bellenguez, Céline; Küçükali, Fahri; Satizabal, Claudia L; Fongang, Bernard; Yang, Qiong; Peters, Oliver; Schneider, Anja; Dichgans, Martin; Rujescu, Dan; Scherbaum, Norbert; Deckert, Jürgen; Riedel-Heller, Steffi; Hausner, Lucrezia; Molina-Porcel, Laura; Düzel, Emrah; Grimmer, Timo; Wiltfang, Jens; Heilmann-Heimbach, Stefanie; Moebus, Susanne; Tegos, Thomas; Scarmeas, Nikolaos; Dols-Icardo, Oriol; Moreno, Fermin; Pérez-Tur, Jordi; Bullido, María J; Pastor, Pau; Sánchez-Valle, Raquel; Álvarez, Victoria; Cao, Han; Ip, Nancy Y; Fu, Amy K Y; Ip, Fanny C F; Olivar, Natividad; Muchnik, Carolina; Cuesta, Carolina; Campanelli, Lorenzo; Solis, Patricia; Politis, Daniel Gustavo; Kochen, Silvia; Brusco, Luis Ignacio; Boada, Mercè; García-González, Pablo; Puerta, Raquel; Mir, Pablo; Real, Luis M; Piñol-Ripoll, Gerard; García-Alberca, Jose María; Royo, Jose Luís; Rodriguez-Rodriguez, Eloy; Soininen, Hilkka; Heikkinen, Sami; de Mendonça, Alexandre; Mehrabian, Shima; Traykov, Latchezar; Hort, Jakub; Vyhnalek, Martin; Rasmussen, Katrine Laura; Thomassen, Jesper Qvist; Pijnenburg, Yolande A L; Holstege, Henne; van Swieten, John C; Seelaar, Harro; Claassen, Jurgen A H R; Jansen, Willemijn J; Ramakers, Inez; Verhey, Frans; van der Lugt, Aad; Scheltens, Philip; Ortega-Rojas, Jenny; Concha Mera, Ana Gabriela; Mahecha, Maria F; Pardo, Rodrigo; Arboleda, Gonzalo; Bahrami, Shahram; Fominykh, Vera; Selbæk, Geir; Graff, Caroline; Papenberg, Goran; Giedraitis, Vilmantas; Boland, Anne; Deleuze, Jean-François; de Marco, Luiz Armando; de Moraes, Edgar Nunes; de Mattos Viana, Bernardo; Túlio Gualberto Cintra, Marco; Juarez-Cedillo, Teresa; Griswold, Anthony J; Forund, Tatiana; Haines, Jonathan; Farrer, Lindsay; DeStefano, Anita; Wijsman, Ellen; Mayeux, Richard; Pericak-Vance, Margaret; Kunkle, Brian; Goate, Alison; Schellenberg, Gerard D; Vardarajan, Badri; Wang, Li-San; Leung, Yuk Yee; Dalgard, Clifton L; Nicolas, Gael; Wallon, David; Dufouil, Carole; Pasquier, Florence; Hanon, Olivier; Debette, Stéphanie; Grünblatt, Edna; Popp, Julius; Angel, Bárbara; Gloger, Sergio; Chacon, Maria Victoria; Aranguiz, Rafael; Orellana, Paulina; Slachevsky, Andrea; Gonzalez-Billault, Christian; Albala, Cecilia; Fuentes, Patricio; Sachdev, Perminder; Mather, Karen A; Hauger, Richard L; Merritt, Victoria; Panizzon, Matthew; Zhang, Rui; Gaziano, J Michael; Ghidoni, Roberta; Galimberti, Daniela; Arosio, Beatrice; Mecocci, Patrizia; Solfrizzi, Vincenzo; Parnetti, Lucilla; Squassina, Alessio; Tremolizzo, Lucio; Borroni, Barbara; Nacmias, Benedetta; Caffarra, Paolo; Seripa, Davide; Rainero, Innocenzo; Daniele, Antonio; Piras, Fabrizio; Leonard, Hampton L; Yokoyama, Jenifer S; Nalls, Mike A; Miyashita, Akinori; Hara, Norikazu; Ozaki, Kouichi; Niida, Shumpei; Williams, Julie; Masullo, Carlo; Amouyel, Philippe; Preux, Pierre-Marie; Mbelesso, Pascal; Bandzouzi, Bébène; Saykin, Andy; Jessen, Frank; Kehoe, Patrick G; Van Duijn, Cornelia; Ben Salem, Nesrine; Frikke-Schmidt, Ruth; Cherni, Lotfi; Greicius, Michael D; Tsolaki, Magda; Sánchez-Juan, Pascual; Romano Silva, Marco Aurélio; Porter, Tenielle; Laws, Simon M; Sleegers, Kristel; Ingelsson, Martin; Dartigues, Jean-François; Seshadri, Sudha; Rossi, Giacomina; Morelli, Laura; Hiltunen, Mikko; Sims, Rebecca; van der Flier, Wiesje; Andreassen, Ole A; Arboleda, Humberto; Cruchaga, Carlos; Escott-Price, Valentina; Ruiz, Agustín; Lee, Kun Ho; Ikeuchi, Takeshi; Ramirez, Alfredo; Gim, Jungsoo; Logue, Mark; Lambert, Jean-Charles

Machine learning in Alzheimer's disease genetics

机器学习在阿尔茨海默病遗传学中的应用

Bracher-Smith, Matthew; Melograna, Federico; Ulm, Brittany; Bellenguez, Céline; Grenier-Boley, Benjamin; Duroux, Diane; Nevado, Alejo J; Holmans, Peter; Tijms, Betty M; Hulsman, Marc; de Rojas, Itziar; Campos-Martin, Rafael; der Lee, Sven van; Castillo, Atahualpa; Küçükali, Fahri; Peters, Oliver; Schneider, Anja; Dichgans, Martin; Rujescu, Dan; Scherbaum, Norbert; Deckert, Jürgen; Riedel-Heller, Steffi; Hausner, Lucrezia; Molina-Porcel, Laura; Düzel, Emrah; Grimmer, Timo; Wiltfang, Jens; Heilmann-Heimbach, Stefanie; Moebus, Susanne; Tegos, Thomas; Scarmeas, Nikolaos; Dols-Icardo, Oriol; Moreno, Fermin; Pérez-Tur, Jordi; Bullido, María J; Pastor, Pau; Sánchez-Valle, Raquel; Álvarez, Victoria; Boada, Mercè; García-González, Pablo; Puerta, Raquel; Mir, Pablo; Real, Luis M; Piñol-Ripoll, Gerard; García-Alberca, Jose María; Rodriguez-Rodriguez, Eloy; Soininen, Hilkka; Heikkinen, Sami; de Mendonça, Alexandre; Mehrabian, Shima; Traykov, Latchezar; Hort, Jakub; Vyhnalek, Martin; Sandau, Nicolai; Thomassen, Jesper Qvist; Pijnenburg, Yolande A L; Holstege, Henne; van Swieten, John; Ramakers, Inez; Verhey, Frans; Scheltens, Philip; Graff, Caroline; Papenberg, Goran; Giedraitis, Vilmantas; Williams, Julie; Amouyel, Philippe; Boland, Anne; Deleuze, Jean-François; Nicolas, Gael; Dufouil, Carole; Pasquier, Florence; Hanon, Olivier; Debette, Stéphanie; Grünblatt, Edna; Popp, Julius; Ghidoni, Roberta; Galimberti, Daniela; Arosio, Beatrice; Mecocci, Patrizia; Solfrizzi, Vincenzo; Parnetti, Lucilla; Squassina, Alessio; Tremolizzo, Lucio; Borroni, Barbara; Wagner, Michael; Nacmias, Benedetta; Spallazzi, Marco; Seripa, Davide; Rainero, Innocenzo; Daniele, Antonio; Piras, Fabrizio; Masullo, Carlo; Rossi, Giacomina; Jessen, Frank; Kehoe, Patrick; Magda, Tsolaki; Sánchez-Juan, Pascual; Sleegers, Kristel; Ingelsson, Martin; Hiltunen, Mikko; Sims, Rebecca; van der Flier, Wiesje; Andreassen, Ole A; Ruiz, Agustín; Ramirez, Alfredo; Frikke-Schmidt, Ruth; Amin, Najaf; Roshchupkin, Gennady; Lambert, Jean-Charles; Van Steen, Kristel; van Duijn, Cornelia; Escott-Price, Valentina

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

RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications

RRP12 变异与常染色体隐性遗传性脑钙化有关

Monfrini, Edoardo; Rinchetti, Paola; Anheim, Mathieu; Klingseisen, Anna; Lagha-Boukbiza, Ouhaid; Cen, Zhidong; Yang, Dehao; Chen, Xinhui; Maroofian, Reza; Houlden, Henry; Cappelletti, Gioia; Richard, Anne-Claire; Quenez, Olivier; Toro, Camilo; Frucht, Steven J; Lotti, Francesco; Luo, Wei; Hunt, David; Nicolas, Gael; Riboldi, Giulietta M

APOE stratified genome-wide association studies provide novel insights into the genetic etiology of Alzheimers's disease

基于APOE分层的全基因组关联研究为阿尔茨海默病的遗传病因学提供了新的见解

Thomassen, Jesper Qvist; Hampton, Leonard; Ulms, Brittany; Grenier-Boley, Benjamin; Heikkinen, Sami; Garcia, Pablo; Castillo-Morales, Atahualapa; Kikuchi, Masataka; Gim, Jungsoo; Cao, Han; Küçükali, Fahri; Amin, Najaf; Yoon, Dabin; de Rojas, Itziar; Jerez, Pilar Alvarez; Alvarez, Victoria; Arosio, Beatrice; Bellenguez, Celine; Bergh, Sverre; Billingsley, Kimberly; Blauwendraat, Cornelis; Boada, Merce; Borroni, Barbara; Bossù, Paola; Bullido, María J; Daniele, Antonio; Carracedo, Ángel; de Mendonça, Alexandre; Cookson, Mark; Deckert, Jürgen; Dichgans, Martin; Djurovic, Srdjan; Dols-Icardo, Oriol; Dufouil, Carole; Düzel, Emrah; Escott-Price, Valentina; Fladby, Tormod; Fratiglioni, Laura; Fu, Amy K Y; Galimberti, Daniela; García-Alberca, Jose Maria; Giedraitis, Vilmantas; Garcia-Ribas, Guillermo; Graff, Caroline; Grimmer, Timo; Grünblatt, Edna; Hanon, OIivier; Hausner, Lucrezia; Heilmann-Hemibach, Stefanie; Hort, Jakub; Jessen, Frank; Jensen, Kendall; Jonson, Caroline; Kim, Yoontae; Kuznetsov, Nicole; Leinonen, Ville; Lipponen, Anssi; Luo, Jiao; Makarious, Mary; Martiskainen, Henna; Masullo, Carlo; Mecocci, Patrizia; Mehrabian, Shima; Mir, Pablo; Miyashita, Akinori; Moebus, Susanne; Mok, Kin Y; Porcel, Laura Molina; Moreno, Fermin; Nacmias, Benedetta; Parnetti, Lucilla; Pastor, Pau; Pérez-Tur, Jordi; Peters, Oliver; Pijnenburg, Yolande A L; Piñol-Ripoll, Gerard; Popp, Julius; Rainero, Innocenzo; Real, Luis M; Riedel-Heller, Steffi; Rodriguez-Rodriguez, Eloy; Rongve, Arvid; Rossi, Giacomina; Royo, Jose Luis; Rujescu, Dan; Saltvedt, Ingvild; Sáez, María Eugenia; Sánchez-Valle, Raquel; Sanchez-Garcia, Florentino; Sandau, Nicolai; Scarmeas, Nikolaos; Scheffler, Katja; Scherbaum, Norbert; Schneider, Anja; Selbæk, Geir; Seripa, Davide; Solfrizzi, Vincenzo; Spallazzi, Marco; Squassina, Alessio; Stordal, Eystein; Tesi, Niccoló; Tremolizzo, Lucio; Tripathi, Kumar P; van der Flier, Wiesje M; Williams, Julie; Wiltfang, Jens; Aarsland, Dag; Singleton, Andrew B; Amouyel, Philippe; Debette, Stéphanie; Nicolas, Gael; van der Lee, Sven; Holstege, Henne; Fernandez, Maria Victoria; Kehoe, Patrick Gavin; Sleegers, Kristel; Ingelsson, Martin; Ghidoni, Roberta; Andreassen, Ole A; Holmans, Peter A; Sánchez-Juan, Pascual; Sims, Rebecca; Ip, Nancy Y; Lee, Kun Ho; Ikeuchi, Takeshi; Ramirez, Alfredo; Ruiz, Agustin; Hiltunen, Mikko; Lambert, Jean-Charles; van Duijn, Cornelia; Nalls, Mike; Frikke-Schmidt, Ruth

Polygenic Hazard Score for Predicting Age-associated Risk of Alzheimer's Disease in European Populations: Development and Validation

用于预测欧洲人群中与年龄相关的阿尔茨海默病风险的多基因风险评分:开发和验证

Akdeniz, Bayram Cevdet; Bahrami, Shahram; Hagen, Espen; Fuhrer, Julian; Fominykh, Vera; Shadrin, Alexey; Filiz, Tahir Tekin; Athanasiu, Lavinia; Grenier-Boley, Benjamin; Bellenguez, Céline; de Rojas, Itziar; Küçükali, Fahri; Schneider, Anja; Kleineidam, Luca; Rujescu, Dan; Scherbaum, Norbert; Deckert, Jürgen; Riedel-Heller, Steffi; Hausner, Lucrezia; Molina-Porcel, Laura; Grimmer, Timo; Heilmann-Heimbach, Stefanie; Moebus, Susanne; Scarmeas, Nikolaos; García-Alberca, Jose María; Franco-Macías, Emilio; Mir, Pablo; Real, Luis M; Rodriguez-Rodriguez, Eloy; Royo, Jose Luís; Sáez, María Eugenia; Carracedo, Ángel; de Munain, Adolfo Lopez; Amer-Ferrer, Guillermo; Calero, Miguel; Medina, Miguel; Garcia-Ribas, Guillermo; Mendioroz, Maite; Dols-Icardo, Oriol; Moreno, Fermin; Pérez-Tur, Jordi; Bullido, María J; Álvarez, Victoria; Soininen, Hilkka; Heikkinen, Sami; de Mendonça, Alexandre; Mehrabian, Shima; Traykov, Latchezar; Hort, Jakub; Vyhnalek, Martin; Sandau, Nicolai; Thomassen, Jesper Qvist; Luo, Jiao; Pijnenburg, Yolande A L; Tesi, Niccolo; van Swieten, John; Giedraitis, Vilmantas; Williams, Julie; Nicolas, Gael; Debette, Stephanie; Amouyel, Philippe; Grünblatt, Edna; Popp, Julius; Bossù, Paola; Galimberti, Daniela; Rossi, Giacomina; Arosio, Beatrice; Mecocci, Patrizia; Squassina, Alessio; Tremolizzo, Lucio; Borroni, Barbara; Nacmias, Benedetta; Seripa, Davide; Rainero, Innocenzo; Daniele, Antonio; Piras, Fabrizio; Masullo, Carlo; Kehoe, Patrick Gavin; Frikke-Schmidt, Ruth; Ghidoni, Roberta; Ruiz, Agustín; Fernandez, Victoria; Sánchez-Juan, Pascual; Sleegers, Kristel; Ingelsson, Martin; Hiltunen, Mikko; Sims, Rebecca; Ramirez, Alfredo; Broce, Iris J; Haavik, Jan; Selbæk, Geir; Knapskog, Anne-Brita; Saltvedt, Ingvild; Bergh, Sverre; Aakhus, Eivind; Kirsebom, Bjørn-Eivind; Watne, Leiv Otto; Rongve, Arvid; Årsland, Dag; Djurovic, Srdjan; Stordal, Eystein; Toft, Mathias; Scheffler, Katja; Fladby, Tormod; Lambert, Jean-Charles; Dale, Anders; Frei, Oleksandr; Andreassen, Ole

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, Myriam; Athanasiadou, Maria; LaFlamme, Christy W; Marijon, Pierre; Bernard, Virginie; Chatron, Nicolas; Barcia, Giulia; Keren, Boris; Mignot, Cyril; Charles, Perrine; Besnard, Thomas; de Sainte Agathe, Jean-Madeleine; Fuerte, Edith P Almanza; Sengupta, Soham; Milh, Mathieu; Ramond, Francis; Allan, Talia; An, Isabelle; Araujo, Camila; Arpin, Stephanie; Austin-Tse, Christina; Auvin, Stéphane; Baer, Sarah; Bahi-Buisson, Nadia; Bak, Mads; Barth, Magalie; Baulac, Stéphanie; Weirauch, Nathalie Bednark; Begemann, Matthias; Bennett, Mark F; Bensabath, Uriel; Bézieau, Stéphane; Bhouri, Rakia; Biehler, Margaux; Hammer, Trine Bjørg; Bogoin, Julie; Bonanno, Emilie; Boussion, Simon; Bramswig, Nuria C; Bris, Céline; Brosseau-Beauvir, Adelaide; Bruel, Ange-Line; Buratti, Julien; Chambon, Pascal; Chemaly, Nicole; Chesneau, Bertrand; Colin, Estelle; Colmard, Maxime; Conrad, Solène; Courtin, Thomas; Dang, Louis T; de Saint Martin, Anne; de Vanssay de Blavous Legendre, Caroline; Denommé-Pichon, Anne-Sophie; DiTroia, Stephanie; Doco-Fenzy, Martine; Dubourg, Christèle; Dubucs, Charlotte; Ducreux, Stéphanie; Dufour, Louis; Duquet, Romain; Durand, Benjamin; Chehadeh, Salima El; 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; Härting, Nina; Häusler, Martin Georg; Heide, Solveig; Héron, Bénédicte; Héron, Delphine; Heulin, Mathilde; Houdayer, Clara; Isidor, Bertrand; Jacquette, Aurélia; Januel, Louis; Jean-Marçais, Nolwenn; Jousselin, Kevin; Kaiser, Frank J; Kaya, Sabine; King, Chontelle; Konyukh, Marina; Kraft, Florian; Krause, Jeremias; Kirstetter, Rémi; Kuechler, Alma; Kurth, Ingo; Labalme, Audrey; Laloy, Jean-Serene; Laugel, Vincent; Bricquir, Floriane Le; Lèbre, Anne-Sophie; Lebrun, Marine; Leguern, Eric; Levy, Jonathan; Lieffering, Nico; Lyonnet, Stanislas; Lüthy, Kevin; Macdonald, Sian; Mansour-Hendili, Lamisse; Maraval, Julien; Mattausch, Carolin; 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, Valerie; Õunap, Katrin; Pais, Lynn S; Paluch, Robin; 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; Rupin, Mailys; Saugier-Veber, Pascale; Saneto, Russell; Sarrazin, Elisabeth; Schaefer, Elise; Schluth-Bolard, Caroline; Schneider, Amy; Schumann, Isabell; Seplyarskiy, Vladimir; Smol, Thomas; Sunyaev, Shamil; Sperelakis-Beedham, Brian; Stenton, Sarah L; Stock, Friedrich; Tharreau, Mylene; Torun, Deniz; Toulouse, Joseph; Thiyagarajah, Harshini; Valence, Stéphanie; Valleix, Sophie; Villard, Laurent; Ville, Dorothée; Villeneuve, Nathalie; Vitobello, Antonio; Waernessyckle, Aurélie; Weber, Yvonne; Wieczorek, Dagmar; Witkowski, Tom; Yadavilli, Manya; Yammine, Tony; Zaafrane-Khachnaoui, Khaoula; Zaki, Maha S; Ziegler, Alban; 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