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

What’s new in EJHG in May 2025?

2025年5月EJHG有哪些新内容?

Tiller, Jane; Bakshi, Andrew; Dowling, Grace; Keogh, Louise; McInerney-Leo, Aideen; Barlow-Stewart, Kristine; Boughtwood, Tiffany; Gleeson, Penny; Delatycki, Martin B; Winship, Ingrid; Otlowski, Margaret; Lacaze, Paul; Michot, Caroline; Le Goff, Carine; Mahaut, Clémentine; Afenjar, Alexandra; Brooks, Alice S; Campeau, Philippe M; Destree, Anne; Di Rocco, Maja; Donnai, Dian; Hennekam, Raoul; Heron, Delphine; Jacquemont, Sébastien; Kannu, Peter; Lin, Angela E; Manouvrier-Hanu, Sylvie; Mansour, Sahar; Marlin, Sandrine; McGowan, Ruth; Murphy, Helen; Raas-Rothschild, Annick; Rio, Marléne; Simon, Marleen; Stolte-Dijkstra, Irene; Stone, James R; Sznajer, Yves; Tolmie, John; Touraine, Renaud; van den Ende, Jenneke; Van der Aa, Nathalie; van Essen, Ton; Verloes, Alain; Munnich, Arnold; Cormier-Daire, Valérie; Shanks, Morag E; Downes, Susan M; Copley, Richard R; Lise, Stefano; Broxholme, John; Hudspith, Karl A Z; Kwasniewska, Alexandra; Davies, Wayne I L; Hankins, Mark W; Packham, Emily R; Clouston, Penny; Seller, Anneke; Wilkie, Andrew O M; Taylor, Jenny C; Ragoussis, Jiannis; Németh, Andrea H; Bowne, Sara J; Humphries, Marian M; Sullivan, Lori S; Kenna, Paul F; Tam, Lawrence CS; Kiang, Anna S; Campbell, Matthew; Weinstock, George M; Koboldt, Daniel C; Ding, Li; Fulton, Robert S; Sodergren, Erica J; Allman, Denis; Millington-Ward, Sophia; Palfi, Arpad; McKee, Alex; Blanton, Susan H; Slifer, Susan; Konidari, Ioanna; Farrar, G Jane; Daiger, Stephen P; Humphries, Peter; Lugtenberg, Dorien; Kleefstra, Tjitske; Oudakker, Astrid R; Nillesen, Willy M; Yntema, Helger G; Tzschach, Andreas; Raynaud, Martine; Rating, Dietz; Journel, Hubert; Chelly, Jamel; Goizet, Cyril; Lacombe, Didier; Pedespan, Jean-Michel; Echenne, Bernard; Tariverdian, Gholamali; O'Rourke, Declan; King, Mary D; Green, Andrew; van Kogelenberg, Margriet; Van Esch, Hilde; Gecz, Jozef; Hamel, Ben CJ; van Bokhoven, Hans; de Brouwer, Arjan PM; McNeill, Alisdair

De Novo Mutation in TMEM151A and Paroxysmal Kinesigenic Dyskinesia

TMEM151A基因的新生突变与阵发性运动诱发性运动障碍

Wirth, Thomas; Méneret, Aurélie; Drouot, Nathalie; Rudolf, Gabrielle; Lagha Boukbiza, Ouhaid; Chelly, Jamel; Tranchant, Christine; Piton, Amélie; Roze, Emmanuel; Anheim, Mathieu

Highlighting the Dystonic Phenotype Related to GNAO1

重点关注与GNAO1相关的肌张力障碍表型

Wirth, Thomas; Garone, Giacomo; Kurian, Manju A; Piton, Amélie; Millan, Francisca; Telegrafi, Aida; Drouot, Nathalie; Rudolf, Gabrielle; Chelly, Jamel; Marks, Warren; Burglen, Lydie; Demailly, Diane; Coubes, Phillipe; Castro-Jimenez, Mayte; Joriot, Sylvie; Ghoumid, Jamal; Belin, Jérémie; Faucheux, Jean-Marc; Blumkin, Lubov; Hull, Mariam; Parnes, Mered; Ravelli, Claudia; Poulen, Gaëtan; Calmels, Nadège; Nemeth, Andrea H; Smith, Martin; Barnicoat, Angela; Ewenczyk, Claire; Méneret, Aurélie; Roze, Emmanuel; Keren, Boris; Mignot, Cyril; Beroud, Christophe; Acosta, Fernando Jr; Nowak, Catherine; Wilson, William G; Steel, Dora; Capuano, Alessandro; Vidailhet, Marie; Lin, Jean-Pierre; Tranchant, Christine; Cif, Laura; Doummar, Diane; Anheim, Mathieu

Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models

对与智力障碍相关的罕见疾病基因进行大规模功能评估,揭示小鼠模型中独特的发育和行为特征

Meziane, Hamid; Birling, Marie-Christine; Wendling, Olivia; Leblanc, Sophie; Dubos, Aline; Selloum, Mohammed; Pavlovic, Guillaume; Sorg, Tania; Kalscheuer, Vera M; Billuart, Pierre; Laumonnier, Frédéric; Chelly, Jamel; van Bokhoven, Hans; Herault, Yann

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

MN1 C端截断综合征是一种新型的神经发育和颅面疾病,伴有部分菱脑融合。

Mak, Christopher C Y; Doherty, Dan; Lin, Angela E; Vegas, Nancy; Cho, Megan T; Viot, Géraldine; Dimartino, Clémantine; Weisfeld-Adams, James D; Lessel, Davor; Joss, Shelagh; Li, Chumei; Gonzaga-Jauregui, Claudia; Zarate, Yuri A; Ehmke, Nadja; Horn, Denise; Troyer, Caitlin; Kant, Sarina G; Lee, Youngha; Ishak, Gisele E; Leung, Gordon; Barone Pritchard, Amanda; Yang, Sandra; Bend, Eric G; Filippini, Francesca; Roadhouse, Chelsea; Lebrun, Nicolas; Mehaffey, Michele G; Martin, Pierre-Marie; Apple, Benjamin; Millan, Francisca; Puk, Oliver; Hoffer, Mariette J V; Henderson, Lindsay B; McGowan, Ruth; Wentzensen, Ingrid M; Pei, Steven; Zahir, Farah R; Yu, Mullin; Gibson, William T; Seman, Ann; Steeves, Marcie; Murrell, Jill R; Luettgen, Sabine; Francisco, Elizabeth; Strom, Tim M; Amlie-Wolf, Louise; Kaindl, Angela M; Wilson, William G; Halbach, Sara; Basel-Salmon, Lina; Lev-El, Noa; Denecke, Jonas; Vissers, Lisenka E L M; Radtke, Kelly; Chelly, Jamel; Zackai, Elaine; Friedman, Jan M; Bamshad, Michael J; Nickerson, Deborah A; Reid, Russell R; Devriendt, Koenraad; Chae, Jong-Hee; Stolerman, Elliot; McDougall, Carey; Powis, Zöe; Bienvenu, Thierry; Tan, Tiong Y; Orenstein, Naama; Dobyns, William B; Shieh, Joseph T; Choi, Murim; Waggoner, Darrel; Gripp, Karen W; Parker, Michael J; Stoler, Joan; Lyonnet, Stanislas; Cormier-Daire, Valérie; Viskochil, David; Hoffman, Trevor L; Amiel, Jeanne; Chung, Brian H Y; Gordon, Christopher T

Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation

早发性帕金森病是 PPP2R5D p.E200K 突变的一种表现

Kim, Christine Y; Wirth, Thomas; Hubsch, Cécile; Németh, Andrea H; Okur, Volkan; Anheim, Mathieu; Drouot, Nathalie; Tranchant, Christine; Rudolf, Gabrielle; Chelly, Jamel; Tatton-Brown, Katrina; Blauwendraat, Cornelis; Vonsattel, Jean Paul G; Cortes, Etty; Alcalay, Roy N; Chung, Wendy K

Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

双等位基因PDE2A变异:综合征性阵发性运动障碍的新病因

Doummar, Diane; Dentel, Christel; Lyautey, Romane; Metreau, Julia; Keren, Boris; Drouot, Nathalie; Malherbe, Ludivine; Bouilleret, Viviane; Courraud, Jérémie; Valenti-Hirsch, Maria Paola; Minotti, Lorella; Dozieres-Puyravel, Blandine; Bär, Séverine; Scholly, Julia; Schaefer, Elise; Nava, Caroline; Wirth, Thomas; Nasser, Hala; de Salins, Marie; de Saint Martin, Anne; Warde, Marie Thérèse Abi; Kahane, Philippe; Hirsch, Edouard; Anheim, Mathieu; Friant, Sylvie; Chelly, Jamel; Mignot, Cyril; Rudolf, Gabrielle

Correction to: The landscape of epilepsy-related GATOR1 variants

更正:癫痫相关GATOR1变异体的概况

Baldassari, Sara; Picard, Fabienne; Verbeek, Nienke E; van Kempen, Marjan; Brilstra, Eva H; Lesca, Gaetan; Conti, Valerio; Guerrini, Renzo; Bisulli, Francesca; Licchetta, Laura; Pippucci, Tommaso; Tinuper, Paolo; Hirsch, Edouard; Martin, Anne de Saint; Chelly, Jamel; Rudolf, Gabrielle; Chipaux, Mathilde; Ferrand-Sorbets, Sarah; Dorfmüller, Georg; Sisodiya, Sanjay; Balestrini, Simona; Schoeler, Natasha; Hernandez-Hernandez, Laura; Krithika, S; Oegema, Renske; Hagebeuk, Eveline; Gunning, Boudewijn; Deckers, Charles; Berghuis, Bianca; Wegner, Ilse; Niks, Erik; Jansen, Floor; Braun, Kees; Jong, Daniëlle de; Rubboli, Guido; Talvik, Inga; Sander, Valentin; Uldall, Peter; Jacquemont, Marie-Line; Nava, Caroline; Leguern, Eric; Julia, Sophie; Gambardella, Antonio; d'Orsi, Giuseppe; Crichiutti, Giovanni; Faivre, Laurence; Darmency, Veronique; Benova, Barbora; Krsek, Pavel; Biraben, Arnaud; Lebre, Anne-Sophie; Jennesson, Mélanie; Sattar, Shifteh; Marchal, Cécile; NordliJr, Douglas R; Lindstrom, Kristin; Striano, Pasquale; Lomax, Lysa Boissé; Kiss, Courtney; Bartolomei, Fabrice; Lepine, Anne Fabienne; Schoonjans, An-Sofie; Stouffs, Katrien; Jansen, Anna; Panagiotakaki, Eleni; Ricard-Mousnier, Brigitte; Thevenon, Julien; Bellescize, Julitta de; Catenoix, Hélène; Dorn, Thomas; Zenker, Martin; Müller-Schlüter, Karen; Brandt, Christian; Krey, Ilona; Polster, Tilman; Wolff, Markus; Balci, Meral; Rostasy, Kevin; Achaz, Guillaume; Zacher, Pia; Becher, Thomas; Cloppenborg, Thomas; Yuskaitis, Christopher J; Weckhuysen, Sarah; Poduri, Annapurna; Lemke, Johannes R; Møller, Rikke S; Baulac, Stéphanie

Correction: The landscape of epilepsy-related GATOR1 variants

更正:癫痫相关GATOR1变异体的概况

Baldassari, Sara; Picard, Fabienne; Verbeek, Nienke E; van Kempen, Marjan; Brilstra, Eva H; Lesca, Gaetan; Conti, Valerio; Guerrini, Renzo; Bisulli, Francesca; Licchetta, Laura; Pippucci, Tommaso; Tinuper, Paolo; Hirsch, Edouard; de Saint Martin, Anne; Chelly, Jamel; Rudolf, Gabrielle; Chipaux, Mathilde; Ferrand-Sorbets, Sarah; Dorfmüller, Georg; Sisodiya, Sanjay; Balestrini, Simona; Schoeler, Natasha; Hernandez-Hernandez, Laura; Krithika, S; Oegema, Renske; Hagebeuk, Eveline; Gunning, Boudewijn; Deckers, Charles; Berghuis, Bianca; Wegner, Ilse; Niks, Erik H; Jansen, Floor E; Braun, Kees; de Jong, Daniëlle; Rubboli, Guido; Talvik, Inga; Sander, Valentin; Uldall, Peter; Jacquemont, Marie-Line; Nava, Caroline; Leguern, Eric; Julia, Sophie; Gambardella, Antonio; d'Orsi, Giuseppe; Crichiutti, Giovanni; Faivre, Laurence; Darmency, Veronique; Benova, Barbora; Krsek, Pavel; Biraben, Arnaud; Lebre, Anne-Sophie; Jennesson, Mélanie; Sattar, Shifteh; Marchal, Cécile; NordliJr, Douglas R; Lindstrom, Kristin; Striano, Pasquale; Lomax, Lysa Boissé; Kiss, Courtney; Bartolomei, Fabrice; Lepine, Anne Fabienne; Schoonjans, An-Sofie; Stouffs, Katrien; Jansen, Anna; Panagiotakaki, Eleni; Ricard-Mousnier, Brigitte; Thevenon, Julien; de Bellescize, Julitta; Catenoix, Hélène; Dorn, Thomas; Zenker, Martin; Müller-Schlüter, Karen; Brandt, Christian; Krey, Ilona; Polster, Tilman; Wolff, Markus; Balci, Meral; Rostasy, Kevin; Achaz, Guillaume; Zacher, Pia; Becher, Thomas; Cloppenborg, Thomas; Yuskaitis, Christopher J; Weckhuysen, Sarah; Poduri, Annapurna; Lemke, Johannes R; Møller, Rikke S; Baulac, Stéphanie

Impaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder

惊恐症中甘氨酸能传递受损:一种异态睡眠重叠障碍模型

Lopez, Régis; Rivier, François; Chelly, Jamel; Dauvilliers, Yves