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

Olig2-specific loss-of-function Slc35a2 results in hypomyelination and spontaneous seizures

Olig2特异性Slc35a2功能丧失会导致髓鞘形成不足和自发性癫痫发作。

Bartel, Tiffany M; Ghosh, Chaitali; Bisaha, Kathryn; Khoury, Jean; Nemes-Baran, Ashley; Blumcke, Ingmar; Najm, Imad

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

基因门户:将临床、功能和结构证据整合到罕见病变异分类中的框架

Brünger, Tobias; Krey, Ilona; Kim, Suyeon; Klöckner, Chiara; Myers, Scott J; Johannesen, Katrine M; Stefanski, Arthur; Taylor, Gary; Perez-Palma, Eduardo; Macnee, Marie; Schorge, Stephanie; Dahl, Rebekka S; Yuan, Hongjie; Perszyk, Riley E; Kim, Sukhan; Bajaj, Sunanjay; Helbig, Ingo; Pan, Jen Q; Farrant, Mark; Wollmuth, Lonnie; Wyllie, David J A; Kurganov, Erkin; Baez, David; Zuberi, Sameer; Boßelmann, Christian M; Lerche, Holger; Mantegazza, Massimo; Cestèle, Sandrine; May, Patrick; Ivaniuk, Alina; Meskis, Mary Anne; Hood, Veronica; Schust, Leah; Goodspeed, Kimberly; Kang, Jing-Qiong; Freed, Amber; Gati, Cornelius; Montanucci, Ludovica; Wuster, Arthur; Trinidad, Marena; Froelich, Steven; Deng, Alexander T; Serrano, Ángel Aledo; Borovikov, Artem; Sharkov, Artem; Bouman, Arjan; Hajianpour, M J; Pal, Deb K; Danvoye, Leslie; Lederer, Damien; Balci, Tugce R; Hagebeuk, Eveline E O; Heidlebaugh, Alexis; Oetjens, Kathryn; Hoffman, Trevor L; Striano, Pasquale; Williams, Sarah Drewes; van Engelen, Kalene; Howell, Katherine B; Khoury, Jean; Benke, Tim A; Strehlow, Vincent; Platzer, Konrad; Ramsey, Amy; Manaster, Lisa; Malepati, Sunitha; Fox, Pangkong; Noebels, Jeffrey; Chung, Wendy; Poduri, Annapurna; Stripe, Laina Lusk; Ruggiero, Sarah M; Cohen, Stacey; Smith, Lacey; Boesch, Sylvia; Wilmarth, Olivia; Prentice, Anna Jenne; Cha, Esther; Budnik, Nikita; Hommersom, Marina P; Kramer, Audra; Vanoye, Carlos G; Zhang, Guo-Qiang; Nothnagel, Michael; Palotie, Aarno; Daly, Mark J; George, Alfred L Jr; Zarate, Yuri A; Brunklaus, Andreas; Traynelis, Stephen F; Møller, Rikke S; Lemke, Johannes R; Lal, Dennis

Anterior Versus Posterior Insular Epilepsy: Correlations with Semiology Based on Stereoelectroencephalography

前岛叶癫痫与后岛叶癫痫:基于立体脑电图的症状学相关性

Chisholm, Jason; Krishnan, Balu; Khoury, Jean; Alexopoulos, Andreas; Bingaman, William; Serletis, Demitre; Najm, Imad; Bulacio, Juan C

Paired blood and brain tissue methylation biomarkers in focal cortical dysplasia

局灶性皮质发育不良患者的配对血液和脑组织甲基化生物标志物

Khurana, Ishant; Khoury, Jean; Busch, Robyn M; Blümcke, Ingmar; Najm, Imad; El-Osta, Assam

GLUT1 and Cerebral Glucose Hypometabolism in Human Focal Cortical Dysplasia Is Associated with Hypermethylation of Key Glucose Regulatory Genes.

人类局灶性皮质发育不良中的 GLUT1 和脑葡萄糖代谢减退与关键葡萄糖调节基因的过度甲基化有关

Ghosh Chaitali, Westcott Rosemary, Skvasik David, Khurana Ishant, Khoury Jean, Blumcke Ingmar, El-Osta Assam, Najm Imad M

Weak neuronal glycolysis sustains cognition and organismal fitness

弱神经元糖酵解维持认知和机体健康

Daniel Jimenez-Blasco, Jesús Agulla, Rebeca Lapresa, Marina Garcia-Macia, Veronica Bobo-Jimenez, Dario Garcia-Rodriguez, Israel Manjarres-Raza, Emilio Fernandez, Yannick Jeanson, Spiro Khoury, Jean-Charles Portais, Daniel Padro, Pedro Ramos-Cabrer, Peter Carmeliet, Angeles Almeida, Juan P Bolaños

Robust evaluation of deep learning-based representation methods for survival and gene essentiality prediction on bulk RNA-seq data

对基于深度学习的表征方法在批量RNA测序数据上的生存和基因必需性预测进行稳健性评估

Gross, Baptiste; Dauvin, Antonin; Cabeli, Vincent; Kmetzsch, Virgilio; El Khoury, Jean; Dissez, Gaëtan; Ouardini, Khalil; Grouard, Simon; Davi, Alec; Loeb, Regis; Esposito, Christian; Hulot, Louis; Ghermi, Ridouane; Blum, Michael; Darhi, Yannis; Durand, Eric Y; Romagnoni, Alberto

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

对 20979 名癫痫患者的外显子组测序揭示了不同疾病亚型之间共同的和独特的超罕见遗传风险

Chen, Siwei; Abou-Khalil, Bassel W; Afawi, Zaid; Ali, Quratulain Zulfiqar; Amadori, Elisabetta; Anderson, Alison; Anderson, Joe; Andrade, Danielle M; Annesi, Grazia; Arslan, Mutluay; Auce, Pauls; Bahlo, Melanie; Baker, Mark D; Balagura, Ganna; Balestrini, Simona; Banks, Eric; Barba, Carmen; Barboza, Karen; Bartolomei, Fabrice; Bass, Nick; Baum, Larry W; Baumgartner, Tobias H; Baykan, Betül; Bebek, Nerses; Becker, Felicitas; Bennett, Caitlin A; Beydoun, Ahmad; Bianchini, Claudia; Bisulli, Francesca; Blackwood, Douglas; Blatt, Ilan; Borggräfe, Ingo; Bosselmann, Christian; Braatz, Vera; Brand, Harrison; Brockmann, Knut; Buono, Russell J; Busch, Robyn M; Caglayan, S Hande; Canafoglia, Laura; Canavati, Christina; Castellotti, Barbara; Cavalleri, Gianpiero L; Cerrato, Felecia; Chassoux, Francine; Cherian, Christina; Cherny, Stacey S; Cheung, Ching-Lung; Chou, I-Jun; Chung, Seo-Kyung; Churchhouse, Claire; Ciullo, Valentina; Clark, Peggy O; Cole, Andrew J; Cosico, Mahgenn; Cossette, Patrick; Cotsapas, Chris; Cusick, Caroline; Daly, Mark J; Davis, Lea K; Jonghe, Peter De; Delanty, Norman; Dennig, Dieter; Depondt, Chantal; Derambure, Philippe; Devinsky, Orrin; Di Vito, Lidia; Dickerson, Faith; Dlugos, Dennis J; Doccini, Viola; Doherty, Colin P; El-Naggar, Hany; Ellis, Colin A; Epstein, Leon; Evans, Meghan; Faucon, Annika; Feng, Yen-Chen Anne; Ferguson, Lisa; Ferraro, Thomas N; Da Silva, Izabela Ferreira; Ferri, Lorenzo; Feucht, Martha; Fields, Madeline C; Fitzgerald, Mark; Fonferko-Shadrach, Beata; Fortunato, Francesco; Franceschetti, Silvana; French, Jacqueline A; Freri, Elena; Fu, Jack M; Gabriel, Stacey; Gagliardi, Monica; Gambardella, Antonio; Gauthier, Laura; Giangregorio, Tania; Gili, Tommaso; Glauser, Tracy A; Goldberg, Ethan; Goldman, Alica; Goldstein, David B; Granata, Tiziana; Grant, Riley; Greenberg, David A; Guerrini, Renzo; Gundogdu-Eken, Aslı; Gupta, Namrata; Haas, Kevin; Hakonarson, Hakon; Haryanyan, Garen; Häusler, Martin; Hegde, Manu; Heinzen, Erin L; Helbig, Ingo; Hengsbach, Christian; Heyne, Henrike; Hirose, Shinichi; Hirsch, Edouard; Ho, Chen-Jui; Hoeper, Olivia; Howrigan, Daniel P; Hucks, Donald; Hung, Po-Chen; Iacomino, Michele; Inoue, Yushi; Inuzuka, Luciana Midori; Ishii, Atsushi; Jehi, Lara; Johnson, Michael R; Johnstone, Mandy; Kälviäinen, Reetta; Kanaan, Moien; Kara, Bulent; Kariuki, Symon M; Kegele, Josua; Kesim, Yeşim; Khoueiry-Zgheib, Nathalie; Khoury, Jean; King, Chontelle; Klein, Karl Martin; Kluger, Gerhard; Knake, Susanne; Kok, Fernando; Korczyn, Amos D; Korinthenberg, Rudolf; Koupparis, Andreas; Kousiappa, Ioanna; Krause, Roland; Krenn, Martin; Krestel, Heinz; Krey, Ilona; Kunz, Wolfram S; Kurlemann, Gerhard; Kuzniecky, Ruben I; Kwan, Patrick; La Vega-Talbott, Maite; Labate, Angelo; Lacey, Austin; Lal, Dennis; Laššuthová, Petra; Lauxmann, Stephan; Lawthom, Charlotte; Leech, Stephanie L; Lehesjoki, Anna-Elina; Lemke, Johannes R; Lerche, Holger; Lesca, Gaetan; Leu, Costin; Lewin, Naomi; Lewis-Smith, David; Li, Gloria Hoi-Yee; Liao, Calwing; Licchetta, Laura; Lin, Chih-Hsiang; Lin, Kuang-Lin; Linnankivi, Tarja; Lo, Warren; Lowenstein, Daniel H; Lowther, Chelsea; Lubbers, Laura; Lui, Colin H T; Macedo-Souza, Lucia Inês; Madeleyn, Rene; Madia, Francesca; Magri, Stefania; Maillard, Louis; Marcuse, Lara; Marques, Paula; Marson, Anthony G; Matthews, Abigail G; May, Patrick; Mayer, Thomas; McArdle, Wendy; McCarroll, Steven M; McGoldrick, Patricia; McGraw, Christopher M; McIntosh, Andrew; McQuillan, Andrew; Meador, Kimford J; Mei, Davide; Michel, Véronique; Millichap, John J; Minardi, Raffaella; Montomoli, Martino; Mostacci, Barbara; Muccioli, Lorenzo; Muhle, Hiltrud; Müller-Schlüter, Karen; Najm, Imad M; Nasreddine, Wassim; Neaves, Samuel; Neubauer, Bernd A; Newton, Charles R J C; Noebels, Jeffrey L; Northstone, Kate; Novod, Sam; O'Brien, Terence J; Owusu-Agyei, Seth; Özkara, Çiğdem; Palotie, Aarno; Papacostas, Savvas S; Parrini, Elena; Pato, Carlos; Pato, Michele; Pendziwiat, Manuela; Pennell, Page B; Petrovski, Slavé; Pickrell, William O; Pinsky, Rebecca; Pinto, Dalila; Pippucci, Tommaso; Piras, Fabrizio; Piras, Federica; Poduri, Annapurna; Pondrelli, Federica; Posthuma, Danielle; Powell, Robert H W; Privitera, Michael; Rademacher, Annika; Ragona, Francesca; Ramirez-Hamouz, Byron; Rau, Sarah; Raynes, Hillary R; Rees, Mark I; Regan, Brigid M; Reif, Andreas; Reinthaler, Eva; Rheims, Sylvain; Ring, Susan M; Riva, Antonella; Rojas, Enrique; Rosenow, Felix; Ryvlin, Philippe; Saarela, Anni; Sadleir, Lynette G; Salman, Barış; Salmon, Andrea; Salpietro, Vincenzo; Sammarra, Ilaria; Scala, Marcello; Schachter, Steven; Schaller, André; Schankin, Christoph J; Scheffer, Ingrid E; Schneider, Natascha; Schubert-Bast, Susanne; Schulze-Bonhage, Andreas; Scudieri, Paolo; Sedláčková, Lucie; Shain, Catherine; Sham, Pak C; Shiedley, Beth R; Siena, S Anthony; Sills, Graeme J; Sisodiya, Sanjay M; Smoller, Jordan W; Solomonson, Matthew; Spalletta, Gianfranco; Sparks, Kathryn R; Sperling, Michael R; Stamberger, Hannah; Steinhoff, Bernhard J; Stephani, Ulrich; Štěrbová, Katalin; Stewart, William C; Stipa, Carlotta; Striano, Pasquale; Strzelczyk, Adam; Surges, Rainer; Suzuki, Toshimitsu; Talarico, Mariagrazia; Talkowski, Michael E; Taneja, Randip S; Tanteles, George A; Timonen, Oskari; Timpson, Nicholas John; Tinuper, Paolo; Todaro, Marian; Topaloglu, Pınar; Tsai, Meng-Han; Tumiene, Birute; Turkdogan, Dilsad; Uğur-İşeri, Sibel; Utkus, Algirdas; Vaidiswaran, Priya; Valton, Luc; van Baalen, Andreas; Vari, Maria Stella; Vetro, Annalisa; Vlčková, Markéta; von Brauchitsch, Sophie; von Spiczak, Sarah; Wagner, Ryan G; Watts, Nick; Weber, Yvonne G; Weckhuysen, Sarah; Widdess-Walsh, Peter; Wiebe, Samuel; Wolf, Steven M; Wolff, Markus; Wolking, Stefan; Wong, Isaac; von Wrede, Randi; Wu, David; Yamakawa, Kazuhiro; Yapıcı, Zuhal; Yis, Uluc; Yolken, Robert; Yücesan, Emrah; Zagaglia, Sara; Zahnert, Felix; Zara, Federico; Zimprich, Fritz; Zizovic, Milena; Zsurka, Gábor; Neale, Benjamin M; Berkovic, Samuel F

GLUT1 and cerebral glucose hypometabolism in human focal cortical dysplasia is associated with hypermethylation of key glucose regulatory genes.

人类局灶性皮质发育不良中的 GLUT1 和脑葡萄糖代谢减退与关键葡萄糖调节基因的过度甲基化有关

Ghosh Chaitali, Westcott Rosemary, Skvasik David, Khurana Ishant, Khoury Jean, Blumcke Ingmar, El-Osta Assam, Najm Imad M

The genomic landscape across 474 surgically accessible epileptogenic human brain lesions

474个可通过手术切除的致痫性人脑病变的基因组图谱

López-Rivera, Javier A; Leu, Costin; Macnee, Marie; Khoury, Jean; Hoffmann, Lucas; Coras, Roland; Kobow, Katja; Bhattarai, Nisha; Pérez-Palma, Eduardo; Hamer, Hajo; Brandner, Sebastian; Rössler, Karl; Bien, Christian G; Kalbhenn, Thilo; Pieper, Tom; Hartlieb, Till; Butler, Elizabeth; Genovese, Giulio; Becker, Kerstin; Altmüller, Janine; Niestroj, Lisa-Marie; Ferguson, Lisa; Busch, Robyn M; Nürnberg, Peter; Najm, Imad; Blümcke, Ingmar; Lal, Dennis