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

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

SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis

SLC6A1变异体的致病性、分子功能和表型:一项遗传和临床分析

Stefanski, Arthur; Pérez-Palma, Eduardo; Brünger, Tobias; Montanucci, Ludovica; Gati, Cornelius; Klöckner, Chiara; Johannesen, Katrine M; Goodspeed, Kimberly; Macnee, Marie; Deng, Alexander T; Aledo-Serrano, Ángel; Borovikov, Artem; Kava, Maina; Bouman, Arjan M; Hajianpour, M J; Pal, Deb K; Engelen, Marc; Hagebeuk, Eveline E O; Shinawi, Marwan; Heidlebaugh, Alexis R; Oetjens, Kathryn; Hoffman, Trevor L; Striano, Pasquale; Freed, Amanda S; Futtrup, Line; Balslev, Thomas; Abulí, Anna; Danvoye, Leslie; Lederer, Damien; Balci, Tugce; Nouri, Maryam Nabavi; Butler, Elizabeth; Drewes, Sarah; van Engelen, Kalene; Howell, Katherine B; Khoury, Jean; May, Patrick; Trinidad, Marena; Froelich, Steven; Lemke, Johannes R; Tiller, Jacob; Freed, Amber N; Kang, Jing-Qiong; Wuster, Arthur; Møller, Rikke S; Lal, Dennis

Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome

SATB2相关综合征的癫痫和脑电图异常

Lewis, Hannah; Samanta, Debopam; Örsell, Jenny-Li; Bosanko, Katherine A; Rowell, Amy; Jones, Melissa; Dale, Russell C; Taravath, Sasidharan; Hahn, Cecil D; Krishnakumar, Deepa; Chagnon, Sarah; Keller, Stephanie; Hagebeuk, Eveline; Pathak, Sheel; Bebin, E Martina; Arndt, Daniel H; Alexander, John J; Mainali, Gayatra; Coppola, Giangennaro; Maclean, Jane; Sparagana, Steven; McNamara, Nancy; Smith, Douglas M; Raggio, Víctor; Cruz, Marcos; Fernández-Jaén, Alberto; Kava, Maina P; Emrick, Lisa; Fish, Jennifer L; Vanderver, Adeline; Helman, Guy; Pierson, Tyler M; Zarate, Yuri A

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

IQSEC2相关脑病在男性和女性中的比较研究:一项纳入37例新患者的研究

Mignot, Cyril; McMahon, Aoife C; Bar, Claire; Campeau, Philippe M; Davidson, Claire; Buratti, Julien; Nava, Caroline; Jacquemont, Marie-Line; Tallot, Marilyn; Milh, Mathieu; Edery, Patrick; Marzin, Pauline; Barcia, Giulia; Barnerias, Christine; Besmond, Claude; Bienvenu, Thierry; Bruel, Ange-Line; Brunga, Ledia; Ceulemans, Berten; Coubes, Christine; Cristancho, Ana G; Cunningham, Fiona; Dehouck, Marie-Bertille; Donner, Elizabeth J; Duban-Bedu, Bénédicte; Dubourg, Christèle; Gardella, Elena; Gauthier, Julie; Geneviève, David; Gobin-Limballe, Stéphanie; Goldberg, Ethan M; Hagebeuk, Eveline; Hamdan, Fadi F; Hančárová, Miroslava; Hubert, Laurence; Ioos, Christine; Ichikawa, Shoji; Janssens, Sandra; Journel, Hubert; Kaminska, Anna; Keren, Boris; Koopmans, Marije; Lacoste, Caroline; Laššuthová, Petra; Lederer, Damien; Lehalle, Daphné; Marjanovic, Dragan; Métreau, Julia; Michaud, Jacques L; Miller, Kathryn; Minassian, Berge A; Morales, Joannella; Moutard, Marie-Laure; Munnich, Arnold; Ortiz-Gonzalez, Xilma R; Pinard, Jean-Marc; Prchalová, Darina; Putoux, Audrey; Quelin, Chloé; Rosen, Alyssa R; Roume, Joelle; Rossignol, Elsa; Simon, Marleen E H; Smol, Thomas; Shur, Natasha; Shelihan, Ivan; Štěrbová, Katalin; Vyhnálková, Emílie; Vilain, Catheline; Soblet, Julie; Smits, Guillaume; Yang, Samuel P; van der Smagt, Jasper J; van Hasselt, Peter M; van Kempen, Marjan; Weckhuysen, Sarah; Helbig, Ingo; Villard, Laurent; Héron, Delphine; Koeleman, Bobby; Møller, Rikke S; Lesca, Gaetan; Helbig, Katherine L; Nabbout, Rima; Verbeek, Nienke E; Depienne, Christel

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

更正:IQSEC2相关脑病在男性和女性中的比较研究,纳入37例新患者

Mignot, Cyril; McMahon, Aoife C; Bar, Claire; Campeau, Philippe M; Davidson, Claire; Buratti, Julien; Nava, Caroline; Jacquemont, Marie-Line; Tallot, Marilyn; Milh, Mathieu; Edery, Patrick; Marzin, Pauline; Barcia, Giulia; Barnerias, Christine; Besmond, Claude; Bienvenu, Thierry; Bruel, Ange-Line; Brunga, Ledia; Ceulemans, Berten; Coubes, Christine; Cristancho, Ana G; Cunningham, Fiona; Dehouck, Marie-Bertille; Donner, Elizabeth J; Duban-Bedu, Bénédicte; Dubourg, Christèle; Gardella, Elena; Gauthier, Julie; Geneviève, David; Gobin-Limballe, Stéphanie; Goldberg, Ethan M; Hagebeuk, Eveline; Hamdan, Fadi F; Hančárová, Miroslava; Hubert, Laurence; Ioos, Christine; Ichikawa, Shoji; Janssens, Sandra; Journel, Hubert; Kaminska, Anna; Keren, Boris; Koopmans, Marije; Lacoste, Caroline; Laššuthová, Petra; Lederer, Damien; Lehalle, Daphné; Marjanovic, Dragan; Métreau, Julia; Michaud, Jacques L; Miller, Kathryn; Minassian, Berge A; Morales, Joannella; Moutard, Marie-Laure; Munnich, Arnold; Ortiz-Gonzalez, Xilma R; Pinard, Jean-Marc; Prchalová, Darina; Putoux, Audrey; Quelin, Chloé; Rosen, Alyssa R; Roume, Joelle; Rossignol, Elsa; Simon, Marleen E H; Smol, Thomas; Shur, Natasha; Shelihan, Ivan; Štěrbová, Katalin; Vyhnálková, Emílie; Vilain, Catheline; Soblet, Julie; Smits, Guillaume; Yang, Samuel P; van der Smagt, Jasper J; van Hasselt, Peter M; van Kempen, Marjan; Weckhuysen, Sarah; Helbig, Ingo; Villard, Laurent; Héron, Delphine; Koeleman, Bobby; Møller, Rikke S; Lesca, Gaetan; Helbig, Katherine L; Nabbout, Rima; Verbeek, Nienke E; Depienne, Christel

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

Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

4例SCN8A相关癫痫患儿对苯妥英钠表现出显著敏感性:分子神经药理学方法

Boerma, Ragna S; Braun, Kees P; van den Broek, Marcel P H; van Berkestijn, Frederique M C; Swinkels, Marielle E; Hagebeuk, Eveline O; Lindhout, Dick; van Kempen, Marjan; Boon, Maartje; Nicolai, Joost; de Kovel, Carolien G; Brilstra, Eva H; Koeleman, Bobby P C

Erratum to: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

勘误:4 例 SCN8A 相关癫痫患儿对苯妥英钠的显著敏感性:分子神经药理学方法

Boerma, Ragna S; Braun, Kees P; van den Broek, Marcel P H; van Berkestijn, Frederique M C; Swinkels, Marielle E; Hagebeuk, Eveline O; Lindhout, Dick; van Kempen, Marjan; Boon, Maartje; Nicolai, Joost; de Kovel, Carolien G; Brilstra, Eva H; Koeleman, Bobby P C

Successful transfer to sulfonylurea therapy in an infant with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome and a novel ABCC8 gene mutation

一名患有发育迟缓、癫痫和新生儿糖尿病(DEND)综合征且携带新型ABCC8基因突变的婴儿成功过渡到磺脲类药物治疗。

Zwaveling-Soonawala, N; Hagebeuk, E E; Slingerland, A S; Ris-Stalpers, C; Vulsma, T; van Trotsenburg, A S