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

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

对泛欧洲罕见病资源进行基因组重新分析,得出新的诊断结果

Laurie, Steven; Steyaert, Wouter; de Boer, Elke; Polavarapu, Kiran; Schuermans, Nika; Sommer, Anna K; Demidov, German; Ellwanger, Kornelia; Paramonov, Ida; Thomas, Coline; Aretz, Stefan; Baets, Jonathan; Benetti, Elisa; Bullich, Gemma; Chinnery, Patrick F; Clayton-Smith, Jill; Cohen, Enzo; Danis, Daniel; de Sainte Agathe, Jean-Madeleine; Denommé-Pichon, Anne-Sophie; Diaz-Manera, Jordi; Efthymiou, Stephanie; Faivre, Laurence; Fernandez-Callejo, Marcos; Freeberg, Mallory; Garcia-Pelaez, José; Guillot-Noel, Lena; Haack, Tobias B; Hanna, Mike; Hengel, Holger; Horvath, Rita; Houlden, Henry; Jackson, Adam; Johansson, Lennart; Johari, Mridul; Kamsteeg, Erik-Jan; Kellner, Melanie; Kleefstra, Tjitske; Lacombe, Didier; Lochmüller, Hanns; López-Martín, Estrella; Macaya, Alfons; Marcé-Grau, Anna; Maver, Aleš; Morsy, Heba; Muntoni, Francesco; Musacchia, Francesco; Nelson, Isabelle; Nigro, Vincenzo; Olimpio, Catarina; Oliveira, Carla; Paulasová Schwabová, Jaroslava; Pauly, Martje G; Peterlin, Borut; Peters, Sophia; Pfundt, Rolph; Piluso, Giulio; Piscia, Davide; Posada, Manuel; Reich, Selina; Renieri, Alessandra; Ryba, Lukas; Šablauskas, Karolis; Savarese, Marco; Schöls, Ludger; Schütz, Leon; Steinke-Lange, Verena; Stevanin, Giovanni; Straub, Volker; Sturm, Marc; Swertz, Morris A; Tartaglia, Marco; Te Paske, Iris B A W; Thompson, Rachel; Torella, Annalaura; Trainor, Christina; Udd, Bjarne; Van de Vondel, Liedewei; van de Warrenburg, Bart; van Reeuwijk, Jeroen; Vandrovcova, Jana; Vitobello, Antonio; Vos, Janet; Vyhnálková, Emílie; Wijngaard, Robin; Wilke, Carlo; William, Doreen; Xu, Jishu; Yaldiz, Burcu; Zalatnai, Luca; Zurek, Birte; Brookes, Anthony J; Evangelista, Teresinha; Gilissen, Christian; Graessner, Holm; Hoogerbrugge, Nicoline; Ossowski, Stephan; Riess, Olaf; Schüle, Rebecca; Synofzik, Matthis; Verloes, Alain; Matalonga, Leslie; Brunner, Han G; Lohmann, Katja; de Voer, Richarda M; Töpf, Ana; Vissers, Lisenka E L M; Beltran, Sergi; Hoischen, Alexander

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

出版商更正:对泛欧洲罕见病资源进行基因组重新分析,得出新的诊断结果

Laurie, Steven; Steyaert, Wouter; de Boer, Elke; Polavarapu, Kiran; Schuermans, Nika; Sommer, Anna K; Demidov, German; Ellwanger, Kornelia; Paramonov, Ida; Thomas, Coline; Aretz, Stefan; Baets, Jonathan; Benetti, Elisa; Bullich, Gemma; Chinnery, Patrick F; Clayton-Smith, Jill; Cohen, Enzo; Danis, Daniel; de Sainte Agathe, Jean-Madeleine; Denommé-Pichon, Anne-Sophie; Diaz-Manera, Jordi; Efthymiou, Stephanie; Faivre, Laurence; Fernandez-Callejo, Marcos; Freeberg, Mallory; Garcia-Pelaez, José; Guillot-Noel, Lena; Haack, Tobias B; Hanna, Mike; Hengel, Holger; Horvath, Rita; Houlden, Henry; Jackson, Adam; Johansson, Lennart; Johari, Mridul; Kamsteeg, Erik-Jan; Kellner, Melanie; Kleefstra, Tjitske; Lacombe, Didier; Lochmüller, Hanns; López-Martín, Estrella; Macaya, Alfons; Marcé-Grau, Anna; Maver, Aleš; Morsy, Heba; Muntoni, Francesco; Musacchia, Francesco; Nelson, Isabelle; Nigro, Vincenzo; Olimpio, Catarina; Oliveira, Carla; Paulasová Schwabová, Jaroslava; Pauly, Martje G; Peterlin, Borut; Peters, Sophia; Pfundt, Rolph; Piluso, Giulio; Piscia, Davide; Posada, Manuel; Reich, Selina; Renieri, Alessandra; Ryba, Lukas; Šablauskas, Karolis; Savarese, Marco; Schöls, Ludger; Schütz, Leon; Steinke-Lange, Verena; Stevanin, Giovanni; Straub, Volker; Sturm, Marc; Swertz, Morris A; Tartaglia, Marco; Te Paske, Iris B A W; Thompson, Rachel; Torella, Annalaura; Trainor, Christina; Udd, Bjarne; Van de Vondel, Liedewei; van de Warrenburg, Bart; van Reeuwijk, Jeroen; Vandrovcova, Jana; Vitobello, Antonio; Vos, Janet; Vyhnálková, Emílie; Wijngaard, Robin; Wilke, Carlo; William, Doreen; Xu, Jishu; Yaldiz, Burcu; Zalatnai, Luca; Zurek, Birte; Brookes, Anthony J; Evangelista, Teresinha; Gilissen, Christian; Graessner, Holm; Hoogerbrugge, Nicoline; Ossowski, Stephan; Riess, Olaf; Schüle, Rebecca; Synofzik, Matthis; Verloes, Alain; Matalonga, Leslie; Brunner, Han G; Lohmann, Katja; de Voer, Richarda M; Töpf, Ana; Vissers, Lisenka E L M; Beltran, Sergi; Hoischen, Alexander

Deep Brain Stimulation in Children and Adolescents with ε-Sarcoglycan Myoclonus Dystonia Causes a Sustained Improvement in Motor Functionality and Quality of Life

对患有ε-肌聚糖肌阵挛性肌张力障碍的儿童和青少年进行深部脑刺激,可持续改善其运动功能和生活质量。

Salazar-Villacorta, Ainara; Cazurro-Gutiérrez, Ana; Dougherty-de Miguel, Lucy; Ferrero-Turrión, Julia; Marcé-Grau, Anna; Folch-Benito, Marta; Lucero-Garófano, Álvaro; Macaya, Alfons; Moreno-Galdó, Antonio; Vanegas, Maria I; Correa-Vela, Marta; González, María Victoria; Español-Martín, Gemma; Loredo, Martha; Delgado, Ignacio; Toro-Tamargo, Esther; Figueroa, Margarita; Vilas, Dolores; Tardáguila, Manel; Muñoz, Jorge; Ispierto, Lourdes; Álvarez, Ramiro; Bescós, Agustí; Pérez-Dueñas, Belén

Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy

SYNGAP1脑病脑电图结果的发育结局

Ribeiro-Constante, Juliana; Tristán-Noguero, Alba; Martínez Calvo, Fernando Francisco; Ibañez-Mico, Salvador; Peña Segura, José Luis; Ramos-Fernández, José Miguel; Moyano Chicano, María Del Carmen; Camino León, Rafael; Soto Insuga, Víctor; González Alguacil, Elena; Valera Dávila, Carlos; Fernández-Jaén, Alberto; Plans, Laura; Camacho, Ana; Visa-Reñé, Nuria; Martin-Tamayo Blázquez, María Del Pilar; Paredes-Carmona, Fernando; Marti-Carrera, Itxaso; Hernández-Fabián, Aránzazu; Tomas Davi, Meritxell; Sanchez, Merce Casadesus; Herraiz, Laura Cuesta; Pita, Patricia Fuentes; Gonzalez, Teresa Bermejo; O'Callaghan, Mar; Iglesias Santa Polonia, Federico Felipe; Cazorla, María Rosario; Ferrando Lucas, María Teresa; González-Meneses, Antonio; Sala-Coromina, Júlia; Macaya, Alfons; Lasa-Aranzasti, Amaia; Cueto-González, Anna Ma; Valera Párraga, Francisca; Campistol Plana, Jaume; Serrano, Mercedes; Alonso, Xenia; Del Castillo-Berges, Diego; Schwartz-Palleja, Marc; Illescas, Sofía; Ramírez Camacho, Alia; Sans Capdevila, Oscar; García-Cazorla, Angeles; Bayés, Àlex; Alonso-Colmenero, Itziar

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

ClinPrior:一种基于网络优先级的诊断和新基因发现算法

Schlüter, Agatha; Vélez-Santamaría, Valentina; Verdura, Edgard; Rodríguez-Palmero, Agustí; Ruiz, Montserrat; Fourcade, Stéphane; Planas-Serra, Laura; Launay, Nathalie; Guilera, Cristina; Martínez, Juan José; Homedes-Pedret, Christian; Albertí-Aguiló, M Antonia; Zulaika, Miren; Martí, Itxaso; Troncoso, Mónica; Tomás-Vila, Miguel; Bullich, Gemma; García-Pérez, M Asunción; Sobrido-Gómez, María-Jesús; López-Laso, Eduardo; Fons, Carme; Del Toro, Mireia; Macaya, Alfons; Beltran, Sergi; Gutiérrez-Solana, Luis G; Pérez-Jurado, Luis A; Aguilera-Albesa, Sergio; de Munain, Adolfo López; Casasnovas, Carlos; Pujol, Aurora

De novo KCNA6 variants with attenuated K(V) 1.6 channel deactivation in patients with epilepsy

癫痫患者中新生KCNA6变异体导致K(V)1.6通道失活减弱

Salpietro, Vincenzo; Galassi Deforie, Valentina; Efthymiou, Stephanie; O'Connor, Emer; Marcé-Grau, Anna; Maroofian, Reza; Striano, Pasquale; Zara, Federico; Morrow, Michelle M; Reich, Adi; Blevins, Amy; Sala-Coromina, Júlia; Accogli, Andrea; Fortuna, Sara; Alesandrini, Marie; Au, P Y Billie; Singhal, Nilika Shah; Cogne, Benjamin; Isidor, Bertrand; Hanna, Michael G; Macaya, Alfons; Kullmann, Dimitri M; Houlden, Henry; Männikkö, Roope

Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

利用基于互作组驱动的优先排序方法,通过单例全外显子组和全基因组测序诊断遗传性白质疾病

Schlüter, Agatha; Rodríguez-Palmero, Agustí; Verdura, Edgard; Vélez-Santamaría, Valentina; Ruiz, Montserrat; Fourcade, Stéphane; Planas-Serra, Laura; Martínez, Juan José; Guilera, Cristina; Girós, Marisa; Artuch, Rafael; Yoldi, María Eugenia; O'Callaghan, Mar; García-Cazorla, Angels; Armstrong, Judith; Marti, Itxaso; Mondragón Rezola, Elisabet; Redin, Claire; Mandel, Jean Louis; Conejo, David; Sierra-Córcoles, Concepción; Beltrán, Sergi; Gut, Marta; Vázquez, Elida; Del Toro, Mireia; Troncoso, Mónica; Pérez-Jurado, Luis A; Gutiérrez-Solana, Luis G; López de Munain, Adolfo; Casasnovas, Carlos; Aguilera-Albesa, Sergio; Macaya, Alfons; Pujol, Aurora

The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders

儿童期起病的复杂多动症的遗传图谱

Pérez-Dueñas, Belén; Gorman, Kathleen; Marcé-Grau, Anna; Ortigoza-Escobar, Juan D; Macaya, Alfons; Danti, Federica R; Barwick, Katy; Papandreou, Apostolos; Ng, Joanne; Meyer, Esther; Mohammad, Shekeeb S; Smith, Martin; Muntoni, Francesco; Munot, Pinki; Uusimaa, Johanna; Vieira, Päivi; Sheridan, Eammon; Guerrini, Renzo; Cobben, Jan; Yilmaz, Sanem; De Grandis, Elisa; Dale, Russell C; Pons, Roser; Peall, Kathryn J; Leuzzi, Vincenzo; Kurian, Manju A

Real-World Evidence Study on the Long-Term Safety of Everolimus in Patients With Tuberous Sclerosis Complex: Final Analysis Results

一项关于依维莫司治疗结节性硬化症患者长期安全性的真实世界证据研究:最终分析结果

Ruiz-Falcó Rojas, María Luz; Feucht, Martha; Macaya, Alfons; Wilken, Bernd; Hahn, Andreas; Maamari, Ricardo; Hirschberg, Yulia; Ridolfi, Antonia; Kingswood, John Chris

Acetazolamide Improves Episodic Ataxia in a Patient with Non-Verbal Autism and Paroxysmal Dyskinesia Due To PRRT2 Biallelic Variants

乙酰唑胺改善了由 PRRT2 双等位基因变异引起的非语言自闭症和阵发性运动障碍患者的发作性共济失调症状

Martorell, Loreto; Macaya, Alfons; Pérez-Dueñas, Belén; Ortigoza-Escobar, Juan Darío