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

Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy

对不明原因癫痫婴儿进行非诊断性短读长基因组测序后进行全面重新分析的诊断率

Nguyen, Jimmy N H; Lachgar-Ruiz, Maria; Higginbotham, Edward J; Coleman, Matthew; Coleman, John; Shao, Wanqing; Scotchman, Elizabeth; Pritchard, Ashley J; Bell, Katrina M; Chitty, Lyn S; Christodoulou, John; De Fazio, Paul; Deshwar, Ashish R; Eltze, Christin; Griffiths, Anna J S; Hassell, Jane; Jain, Puneet; Kaliakatsos, Marios; Liang, Nicole S Y; Lombard, Patrick; Marshall, Christian R; Marx, Catherine; McRae, Lyndsey; Mulhern, Sarah; Paternoster, Ben; Perez Caballero, Ana; Pipko, Neta; Sidhu, Jashanpreet; Smith, Lacey; Stark, Zornitza; Trost, Brett; Wakeling, Emma; White, Susan M; Yoong, Michael; Chandler, Natalie J; Cross, J Helen; Scheffer, Ingrid E; Chau, Vann; Poduri, Annapurna; Howell, Katherine B; Stephenson, Sarah E M; McTague, Amy; Costain, Gregory; D'Gama, Alissa M

Diverse Genetic Etiologies of Unilateral Polymicrogyria

单侧多小脑回畸形的多种遗传病因

Lai, Abbe; Neil, Jennifer E; Akula, Shyam K; Amrom, Dina; Andermann, Eva; Bergin, Ann; Caraballo, Roberto; Chen, Allen Y; Gaitanis, John; Mochida, Ganeshwaran H; Gotoff, Jill M; Kuchukhidze, Giorgi; Marom, Daphna; ElAchkar, Christelle Moufawad; Regev, Miriam; Rodan, Lance H; Olson, Heather; Zhang, Bo; Poduri, Annapurna; Shao, Diane D; Walsh, Christopher A; Yang, Edward

Scaling genomic reanalysis to unlock diagnoses and transform rare disease care

扩大基因组再分析规模,以突破诊断难题,变革罕见病治疗。

Rockowitz, Shira; Shao, Wanqing; French, Courtney; Truong, Tina K; Hagen, Jacob; McGonigle, Rylee; Geltzeiler, Alexa; Sheidley, Beth; Smith, Lacey; D'Gama, Alissa M; Irons, Mira; Chou, Janet; Stoler, Joan; Kritzer, Amy; Rodan, Lance; Shimamura, Akiko; Bodamer, Olaf; Sacharow, Stephanie; Soul, Janet S; Srivastava, Siddharth; Kennedy, Amy Roberts; Abu-El-Haija, Aya; Lai, Abbe; Olson, Heather; Juusola, Jane; Ryan, Erin; Friedman, Bethany; Singh, Anupama; Li, Cliff; Mallik, Rittika; Strickland, Gwendolyn; Prinzing, Gillian; Mo, Alisa; O'Donnell-Luria, Anne; Bolton, Jeff; Boone, Philip M; Brucker, William; Duyzend, Michael; Mahida, Sonal; Miller, David T; Omorodion, Jacklyn; Petit, Jeanette; Picker, Jonathan; Poduri, Annapurna; Carlston, Colleen; Wojcik, Monica H; Sliz, Piotr; Chung, Wendy K

DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity

DNM1相关疾病的特征是反复出现的变异和表型同质性。

Harrison, Alicia G; Ganesan, Shiva; Xie, Hongbo M; Parthasarathy, Shridhar; McKee, Jillian L; Magielski, Jan H; Thalwitzer, Kim; Lobo, Rohit; Pendziwiat, Manuela; van Baalen, Andreas; Muhle, Hiltrud; Poduri, Annapurna; Mo, Alisa; Wiegand, Gert; Õunap, Katrin; Bruel, Ange-Line; Scala, Marcello; Capra, Valeria; Ruggiero, Sarah M; Helbig, Ingo

Disrupted O-GalNAc glycosylation as a mechanism and biomarker of SLC35A2-associated epilepsy

O-GalNAc糖基化紊乱是SLC35A2相关癫痫的机制和生物标志物

Mealer, Robert G; Anderson, James J; Smith, Sheridan L; Masters, Brianna M; Barth, Samuel H; Huizar, Kaitlyn D J; Sran, Sahibjot; Yoon, Hyojung; Ringland, Amanda; Muron, Savannah J; Bowyer, MaryAnn E; D'Gama, Alissa M; Poduri, Annapurna; Lidov, Hart G W; Yang, Edward; Furnari, Julia; Canoll, Peter D; Ostendorf, Adam P; Koboldt, Daniel C; Pierson, Christopher R; Thomas, Diana L; Philpot, Benjamin D; Noel, Maxence; Cummings, Richard D; Heinzen, Erin L; Bedrosian, Tracy A

Activating Ras-MAPK pathway variants drive hippocampal clonal competition in human epilepsy

激活Ras-MAPK通路变体驱动人类癫痫海马克隆竞争

Khoshkhoo, Sattar; Bae, Mingyun; Wang, Yilan; Tillett, Ashton; Ramirez, Rosita B; Finander, Benjamin; Egan, Emily D; Marx, Linus; Patel, Dipan; Zhou, Zinan; Chahine, Yasmine; Chhouk, Brian; Zoullas, Sofia M; Lai, Abbe; Coras, Roland; Bielle, Franck; Navarro, Vincent; Mathon, Bertrand; Valiante, Taufik A; Moradi Chameh, Homeira; Gao, Andrew F; Krings, Timo; Gooley, Samuel; Hildebrand, Michael S; Bulluss, Kristian; Clark, Jonathan; Morokoff, Andrew P; King, James A; Todaro, Marian; Kwan, Patrick; O'Brien, Terence J; Berkovic, Samuel F; Scheffer, Ingrid E; Perucca, Piero; Lapinskas, Emily; Rolston, John D; Cosgrove, G Rees; Sarkis, Rani A; D'Gama, Alissa M; Alexadrescu, Sanda; Yang, Edward; Poduri, Annapurna; Richardson, R Mark; Erson-Omay, E Zeynep; DeLanerolle, Nihal; Spencer, Dennis D; Brown, Katherine S-M; Miller, Michael B; Roberts, Amy E; Santos, Luana N; Kontaridis, Maria I; Bien, Christian G; Blacklow, Stephen C; Kahle, Kristopher T; Blümcke, Ingmar; Huang, August Yue; Lee, Eunjung Alice; Walsh, Christopher A

American Epilepsy Society/International League Against Epilepsy-North America Joint Task Force for Epilepsy Health Care Disparities in the United States

美国癫痫协会/国际抗癫痫联盟北美分会联合工作组,致力于解决美国癫痫医疗保健差异问题

Kapur, Jaideep; Theodore, William; Clarke, Dave; Etienne, Mill; Gutierrez, Camilo; Jobst, Barbara C; Johnson, Emily; Joshi, Sucheta; Kiriakopoulos, Elaine T; Labiner, David M; Lado, Fred A; Lekoubou, Alain; Lowenstein, Daniel H; Parko, Karen; Riker, Ellen; Poduri, Annapurna; Shellhaas, Renée A; Sirven, Joseph I; Skjei, Karen; Stern, John M; Welty, Timothy E; Eickmeyer, Adam B; Strickland, Shawna L

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

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

Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs

基于细胞类型信息的嵌合型局灶性癫痫基因分型揭示了细胞自主性和非细胞自主性的疾病相关转录程序

Bizzotto, Sara; Talukdar, Maya; Stronge, Edward A; Ramirez, Rosita B; Yang, Yingxi; Huang, August Yue; Hu, Qiwen; Hou, Yingping; Hylton, Norma K; Finander, Benjamin; Tillett, Ashton; Zhou, Zinan; Chhouk, Brian H; D'Gama, Alissa M; Yang, Edward; Green, Timothy E; Reutens, David C; Mullen, Saul A; Scheffer, Ingrid E; Hildebrand, Michael S; Buono, Russell J; Blümcke, Ingmar; Poduri, Annapurna H; Khoshkhoo, Sattar; Walsh, Christopher A