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

Simultaneous Study of Circular RNAs and Messenger RNAs in Colorectal Cancer: The Unbalanced Fate of a Couple?

结直肠癌中环状RNA和信使RNA的同步研究:一对夫妇命运的不平衡?

Levacher, Corentin; Delfosse, Joanna; Charbonnier, Camille; Charbonnier, Françoise; Viennot, Mathieu; Kasper, Edwige; Mauillon, Jacques; Parodi, Nathalie; Baert-Desurmont, Stéphanie; Ruminy, Philippe; Houdayer, Claude

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

研究蛋白酶体ATPase亚基基因PSMC5在神经发育性蛋白酶体病中的神经元作用

Küry, Sébastien; Stanton, Janelle E; van Woerden, Geeske M; Bosc-Rosati, Amélie; Hsieh, Tzung-Chien; Bray, Lise; Oloudé, Marielle; Rosenfelt, Cory; Scott-Boyer, Marie Pier; Most, Victoria; Wang, Tianyun; Papendorf, Jonas J; de Konink, Charlotte; Deb, Wallid; Vignard, Virginie; Studencka-Turski, Maja; Besnard, Thomas; Hajdukowicz, Anna M; Thiel, Franziska G; Wolfgramm, Sophie; Florenceau, Laëtitia; Cuinat, Silvestre; Marsac, Sylvain; Verrès, Yann; Dangoumau, Audrey; Poirier, Léa; Wentzensen, Ingrid M; Tuttle, Annabelle; Forster, Cara; Striesow, Johanna; Golnik, Richard; Ortiz, Damara; Jenkins, Laura; Rosenfeld, Jill A; Ziegler, Alban; Houdayer, Clara; Bonneau, Dominique; Torti, Erin; Begtrup, Amber; Monaghan, Kristin G; Mullegama, Sureni V; Volker-Touw, Catharina M L Nienke; van Gassen, Koen L I; Oegema, Renske; de Pagter, Mirjam S; Steindl, Katharina; Rauch, Anita; Ivanovski, Ivan; McDonald, Kimberly; Boothe, Emily; Dauber, Andrew; Baker, Janice; Fabie, Noelle Andrea V; Bernier, Raphael A; Turner, Tychele N; Srivastava, Siddharth; Dies, Kira A; Swanson, Lindsay C; Costin, Carrie; Abdulrazak, Alali; Jobling, Rebekah K; Pappas, John; Rabin, Rachel; Niyazov, Dmitriy; Chun-Hui Tsai, Anne; Kovak, Karen; Beck, David B; Malicdan, May Christine V; Adams, David R; Wolfe, Lynne; Ganetzky, Rebecca D; Muraresku, Colleen C; Babikyan, Davit; Sedláček, Zdeněk; Hančárová, Miroslava; Timberlake, Andrew T; Saif, Hind Al; Nestler, Berkley; King, Kayla; Hajianpour, M J; Costain, Gregory; Prendergast, D'Arcy; Li, Chumei; Geneviève, David; Vitobello, Antonio; Sorlin, Arthur; Philippe, Christophe; Harel, Tamar; Toker, Ori; Sabir, Ataf; Lim, Derek; Hamilton, Mark J; Bryson, Lisa J; Cleary, Elaine; Weber, Sacha; Hoffman, Trevor L; Cueto-González, Anna M; Tizzano, Eduardo F; Gómez-Andrés, David; Codina-Solà, Marta; Ververi, Athina; Pavlidou, Efterpi; Lambropoulos, Alexandros; Garganis, Kyriakos; Rio, Marlène; Levy, Jonathan; Langas, Sarah J; McRae, Anne M; Lessard, Mathieu K; D'Agostino, Maria Daniela; De Bie, Isabelle; Wegler, Meret; Abou Jamra, Rami; Kamphausen, Susanne B; Bothe, Viktoria; Potocki, Lorraine; Olinger, Eric; Sznajer, Yves; Wiame, Elsa; Thompson, Michelle L; Schroeder, Molly C; Gooch, Catherine; Smith, Raphael A; Pandya, Arti; Busch, Larissa M; Völker, Uwe; Hammer, Elke; Wende, Kristian; Cogné, Benjamin; Isidor, Bertrand; Meiler, Jens; Ripoll, Clémentine; Bigou, Stéphanie; Laumonnier, Frédéric; Hildebrand, Peter W; Eichler, Evan E; McWalter, Kirsty; Krawitz, Peter M; Roux-Dalvai, Florence; Elgersma, Ype; Marcoux, Julien; Bousquet, Marie-Pierre; Droit, Arnaud; Poschmann, Jeremie; Grabrucker, Andreas M; Bolduc, Francois V; Bézieau, Stéphane; Ebstein, Frédéric; Krüger, Elke

HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.

HCN2 相关神经发育障碍:来自患者和非洲爪蟾细胞模型的数据

Houdayer Clara, Phillips A Marie, Chabbert Marie, Bourreau Jennifer, Maroofian Reza, Houlden Henry, Richards Kay, Saadi Nebal Waill, Dad'ová Eliška, Van Bogaert Patrick, Rupin Mailys, Keren Boris, Charles Perrine, Smol Thomas, Riquet Audrey, Pais Lynn, O'Donnell-Luria Anne, VanNoy Grace E, Bayat Allan, Møller Rikke S, Olofsson Kern, Jamra Rami Abou, Syrbe Steffen, Dasouki Majed, Seaver Laurie H, Sullivan Jennifer A, Shashi Vandana, Alkuraya Fowzan S, Poss Alexis F, Spence J Edward, Schnur Rhonda E, Forster Ian C, Mckenzie Chaseley E, Simons Cas, Wang Min, Snell Penny, Kothur Kavitha, Buckley Michael, Roscioli Tony, Elserafy Noha, Dauriat Benjamin, Procaccio Vincent, Henrion Daniel, Lenaers Guy, Colin Estelle, Verbeek Nienke E, Van Gassen Koen L, Legendre Claire, Bonneau Dominique, Reid Christopher A, Howell Katherine B, Ziegler Alban, Legros Christian

Deciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratories

解读与TP53致病变异相关的双重临床实体:来自法国实验室53085例HBOC基因检测的启示

Kasper, Edwige; Boulouard, Flavie; Basset, Noémie; Golmard, Lisa; Sassi, Hela; Bouvignies, Emilie; Branchaud, Maud; Charbonnier, Camille; Parodi, Nathalie; Rolain, Marion; Albuisson, Juliette; Al Saati, Ayman; Benusiglio, Patrick; Berthet, Pascaline; Bidart, Marie; Bonnet, Céline; Bouras, Ahmed; Boutry-Kryza, Nadia; Brayotel, Fanny; Bubien, Virginie; Buisson, Adrien; Castéra, Laurent; Caron, Olivier; Colas, Chrystelle; Coulet, Florence; Delnatte, Capucine; Derangère, Valentin; Fievet, Alice; Garrec, Céline; Gauthier-Villars, Marion; Gay-Bellile, Mathilde; Goussot, Vincent; le Gall, Jessica; Lepage, Mathis; Lokchine, Anna; Perrier, Alexandre; Rouleau, Etienne; Sevenet, Nicolas; Stoppa-Lyonnet, Dominique; Ravel, Jean-Marie; Perre, Pierre Vande; Vaur, Dominique; Vilquin, Paul; Bougeard, Gaëlle; Baert-Desurmont, Stéphanie; Thery, Jean-Christophe; Houdayer, Claude

NIA Genetics of Alzheimer's Disease Data Storage Site (NIAGADS): 2025 Update

美国国家老龄研究所阿尔茨海默病遗传学数据存储中心(NIAGADS):2025 年更新

Buisine, Marie-Pierre; Bellanne-Chantelot, Christine; Calmels, Nadège; Vaché, Christel; Besnard, Thomas; Cogne, Benjamin; Vitobello, Antonio; Piton, Amélie; Martins, Alexandra; Gaildrat, Pascaline; Dhaenens, Claire-Marie; Gorokhova, Svetlana; Boutry-Kryza, Nadia; Caputo, Sandrine; Leman, Raphaël; Krieger, Sophie; Le Gac, Gérald; Houdayer, Claude; Bass, Lauren; Kuzma, Amanda; Valladares, Otto; Nicaretta, Heather; Gangadharan, Prabhakaran; Katanic, Zivadin; Kirsch, Maureen; Ren, Youli; Manuel, Joseph; Saravanan, Naveensri; Brettschneider, Jascha; Wilk, Andrew; Zhao, Yi; Qu, Liming; Moon, Michelle K; Rose, Alexis Lerro; Keskinen, Peter; Cifello, Jeffrey; Horng, Wenhwai; Tate, Sam; Robbins, Flawless; White, Heather; Carter, Luke; Chuang, Wei‐Hsuan; Jin, Yumi; Chou, Shin‐Yi; Naj, Adam C; Greenfest‐Allen, Emily; Kuksa, Pavel P; Leung, Yuk Yee; Lee, Wan‐Ping; Schellenberg, Gerald D; Wang, Li‐San

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature

ARID2相关疾病:进一步阐明27例新患者的临床表型并描述其表观遗传特征

Houdayer, Clara; Rooney, Kathleen; van der Laan, Liselot; Bris, Céline; Alders, Mariëlle; Bahr, Angela; Barcia, Giulia; Battault, Clarisse; Begemann, Anais; Bonneau, Dominique; Bonnevalle, Antoine; Boughalem, Aicha; Bourges, Alice; Bournez, Marie; Bruel, Ange-Line; Buhas, Daniela; Carallis, Floriane; Cogné, Benjamin; Cormier-Daire, Valérie; Delanne, Julian; Demaret, Tanguy; Denommé-Pichon, Anne-Sophie; Désir, Julie; Dubourg, Christèle; Fradin, Mélanie; Geneviève, David; Goel, Himanshu; Goldenberg, Alice; Gripp, Karen W; Guichet, Agnès; Guimier, Anne; Jacquinet, Adeline; Keren, Boris; Legoff, Louis; Levy, Michael A; McConkey, Haley; Mendelsohn, Bryce A; Mignot, Cyril; Milon, Vincent; Nizon, Mathilde; Oneda, Beatrice; Pasquier, Laurent; Patat, Olivier; Philippe, Christophe; Procaccio, Vincent; Procopio, Rebecca; Prouteau, Clément; Rambaud, Thomas; Rauch, Anita; Relator, Raissa; Rondeau, Sophie; Santen, Gijs W E; Schleit, Jennifer; Sorlin, Arthur; Steindl, Katharina; Tedder, Matt; Tessarech, Marine; Mau-Them, Frédéric Tran; Trost, Detlef; Van der Sluijs, Pleuntje J; Vincent, Marie; Whalen, Sandra; Thauvin-Robinet, Christel; Isidor, Bertrand; Sadikovic, Bekim; Vitobello, Antonio; Colin, Estelle

Predicting the impact of rare variants on RNA splicing in CAGI6

预测罕见变异对CAGI6中RNA剪接的影响

Lord, Jenny; Oquendo, Carolina Jaramillo; Wai, Htoo A; Douglas, Andrew G L; Bunyan, David J; Wang, Yaqiong; Hu, Zhiqiang; Zeng, Zishuo; Danis, Daniel; Katsonis, Panagiotis; Williams, Amanda; Lichtarge, Olivier; Chang, Yuchen; Bagnall, Richard D; Mount, Stephen M; Matthiasardottir, Brynja; Lin, Chiaofeng; Hansen, Thomas van Overeem; Leman, Raphael; Martins, Alexandra; Houdayer, Claude; Krieger, Sophie; Bakolitsa, Constantina; Peng, Yisu; Kamandula, Akash; Radivojac, Predrag; Baralle, Diana

The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review

BRPF1相关疾病的表型和基因型谱:29例新病例及文献综述

Colson, Cindy; Tessarech, Marine; Boucher-Brischoux, Elise; Boute-Benejean, Odile; Vincent-Delorme, Catherine; Vanlerberghe, Clémence; Boussion, Simon; Cunff, Justine Le; Duban-Bedu, Bénédicte; Faivre, Laurence; Thauvin, Christel; Philippe, Christophe; Bruel, Ange-Line; Tran Mau-Them, Frédéric; Houdayer, Clara; Lesca, Gaetan; Putoux, Audrey; Lévy, Jonathan; Patat, Olivier; Rio, Marlène; Ghoumid, Jamal; Smol, Thomas

Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort study

PTEN错构瘤肿瘤综合征(PHTS)患者的癌症预后和治疗结果——一项欧洲队列研究

Hendricks, Linda A J; Verbeek, Katja C J; Schuurs-Hoeijmakers, Janneke H M; de Putter, Robin; Brems, Hilde; Van Daele, Sien H; Anastasiadou, Violetta C; Foretová, Lenka; Benusiglio, Patrick R; Gerasimenko, Anna; Colas, Chrystelle; Villy, Marie-Charlotte; Houdayer, Claude; Branchaud, Maud; Hüneburg, Robert; Aretz, Stefan; Jahn, Arne; Steinke-Lange, Verena; Innella, Giovanni; Turchetti, Daniela; Barili, Valeria; Genuardi, Maurizio; Panfili, Arianna; Baldassarri, Margherita; Irmejs, Arvīds; de Jong, Mirjam M; Links, Thera P; Leter, Edward M; Bosch, Daniëlle G M; Donze, Stephany H; van der Post, Rachel S; Mensenkamp, Arjen R; Westdorp, Harm; Høberg-Vetti, Hildegunn; Tveit Haavind, Marianne; Jørgensen, Kjersti; Mæhle, Lovise; Briskemyr, Siri; Garcia, Juliette Dupont; Blatnik, Ana; Balmaña, Judith; Torres, Maite; Brunet, Joan; Lleuger-Pujol, Roser; Tham, Emma; Tischkowitz, Marc; Evans, D Gareth; Hyder, Zerin; Hoogerbrugge, Nicoline; Vos, Janet R