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

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis

血液系统恶性肿瘤易感基因DDX41的双等位基因种系变异通过扰乱视网膜稳态导致视网膜营养不良。

Mars, Zoéline; Zanetti, Andrea; Kaminska, Karolina; Miyagawa, Takero; Liu, Duanya; Antonio, Aline; Arno, Gavin; Audo, Isabelle; Ayuso, Carmen; Muhammad Jafar Hussain, Hafiz; Bao, Xuan; Barberán-Martínez, Pilar; Bocquet, Béatrice; Boguszewska-Chachulska, Anna; Condroyer, Christel; David, Pierre; Dollfus, Hélène; Fares-Taie, Lucas; Fernández-Caballero, Lidia; García-García, Gema; Michel, Victor; Guerrera, Chiara Ida; Jung, Vincent; Kessel, Line; Gioja, Louise; Lin, Siying; Matczynska, Ewa; Millán, Jose M; Moye, Abigail R; Martín-Gutiérrez, M Pilar; Quinodoz, Mathieu; Robert, Matthieu P; Roger, Jerome E; Sousa-Luis, Rui; Swafiri, Saoud Tahsin; Teper, Slawomir; Meunier, Isabelle; Patat, Olivier; Pennesi, Mark E; Wadt, Karin A W; Wang, Meng; Webster, Andrew R; Yang, Paul; Yumei, Li; Zeitz, Christina; Rieux-Laucat, Frederic; Giraudier, Stéphane; Chen, Rui; Fica, Sebastian M; Rivolta, Carlo; Sebert, Marie; Rozet, Jean-Michel; Perrault, Isabelle

Identification of new families and variants in autosomal dominant macular dystrophy associated with THRB

鉴定与THRB相关的常染色体显性遗传性黄斑营养不良的新家族和变异

Fernández-Caballero, Lidia; Blanco-Kelly, Fiona; Swafiri, Saoud Tahsin; Martín-Mérida, María Inmaculada; Quinodoz, Mathieu; Ullah, Mukhtar; Carreño, Ester; Martin-Gutierrez, María Pilar; García-Sandoval, Blanca; Minguez, Pablo; Rivolta, Carlo; Corton, Marta; Ayuso, Carmen

PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort

PRPH2相关视网膜营养不良:来自西班牙队列的103个家族的突变谱

Fernández-Caballero, Lidia; Martín-Merida, Inmaculada; Blanco-Kelly, Fiona; Avila-Fernandez, Almudena; Carreño, Ester; Fernandez-San Jose, Patricia; Irigoyen, Cristina; Jimenez-Rolando, Belen; Lopez-Grondona, Fermina; Mahillo, Ignacio; Martin-Gutierrez, María Pilar; Minguez, Pablo; Perea-Romero, Irene; Del Pozo-Valero, Marta; Riveiro-Alvarez, Rosa; Rodilla, Cristina; Rodriguez-Peña, Lidya; Sánchez-Barbero, Ana Isabel; Swafiri, Saoud T; Trujillo-Tiebas, María José; Zurita, Olga; García-Sandoval, Blanca; Corton, Marta; Ayuso, Carmen

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

TRIP12 变异个体的神经发育和面部表型

Aerden, Mio; Denommé-Pichon, Anne-Sophie; Bonneau, Dominique; Bruel, Ange-Line; Delanne, Julian; Gérard, Bénédicte; Mazel, Benoît; Philippe, Christophe; Pinson, Lucile; Prouteau, Clément; Putoux, Audrey; Tran Mau-Them, Frédéric; Viora-Dupont, Éléonore; Vitobello, Antonio; Ziegler, Alban; Piton, Amélie; Isidor, Bertrand; Francannet, Christine; Maillard, Pierre-Yves; Julia, Sophie; Philippe, Anais; Schaefer, Elise; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette; Legius, Eric; Theunis, Miel; Keren, Boris; Buratti, Julien; Charles, Perrine; Courtin, Thomas; Misra-Isrie, Mala; van Haelst, Mieke; Waisfisz, Quinten; Wieczorek, Dagmar; Schmetz, Ariane; Herget, Theresia; Kortüm, Fanny; Lisfeld, Jasmin; Debray, François-Guillaume; Bramswig, Nuria C; Atallah, Isis; Fodstad, Heidi; Jouret, Guillaume; Almoguera, Berta; Tahsin-Swafiri, Saoud; Santos-Simarro, Fernando; Palomares-Bralo, Maria; López-González, Vanesa; Kibaek, Maria; Tørring, Pernille M; Renieri, Alessandra; Bruno, Lucia Pia; Õunap, Katrin; Wojcik, Monica; Hsieh, Tzung-Chien; Krawitz, Peter; Van Esch, Hilde

Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review

Snijders-Blok-Campeau综合征:20例携带CHD3基因变异的患者的描述及文献综述

Pascual, Patricia; Tenorio-Castano, Jair; Mignot, Cyril; Afenjar, Alexandra; Arias, Pedro; Gallego-Zazo, Natalia; Parra, Alejandro; Miranda, Lucia; Cazalla, Mario; Silván, Cristina; Heron, Delphine; Keren, Boris; Popa, Ioana; Palomares, María; Rikeros, Emi; Ramos, Feliciano J; Almoguera, Berta; Ayuso, Carmen; Swafiri, Saoud Tahsin; Barbero, Ana Isabel Sánchez; Srinivasan, Varunvenkat M; Gowda, Vykuntaraju K; Morleo, Manuela; Nigro, Vicenzo; D'Arrigo, Stefano; Ciaccio, Claudia; Martin Mesa, Carmen; Paumard, Beatriz; Guillen, Gema; Anton, Ana Teresa Serrano; Jimenez, Marta Domínguez; Seidel, Veronica; Suárez, Julia; Cormier-Daire, Valerie; Consortium, The Sogri; Nevado, Julián; Lapunzina, Pablo

Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome

等位基因过载及其在巴德-比德尔综合征中的临床修饰作用

Perea-Romero, Irene; Solarat, Carlos; Blanco-Kelly, Fiona; Sanchez-Navarro, Iker; Bea-Mascato, Brais; Martin-Salazar, Eduardo; Lorda-Sanchez, Isabel; Swafiri, Saoud Tahsin; Avila-Fernandez, Almudena; Martin-Merida, Inmaculada; Trujillo-Tiebas, Maria Jose; Carreño, Ester; Jimenez-Rolando, Belen; Garcia-Sandoval, Blanca; Minguez, Pablo; Corton, Marta; Valverde, Diana; Ayuso, Carmen

Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies

下一代测序技术在揭示1036个西班牙遗传性黄斑营养不良家族的遗传学特征中的作用

Del Pozo-Valero, Marta; Riveiro-Alvarez, Rosa; Martin-Merida, Inmaculada; Blanco-Kelly, Fiona; Swafiri, Saoud; Lorda-Sanchez, Isabel; Trujillo-Tiebas, Maria José; Carreño, Ester; Jimenez-Rolando, Belen; Garcia-Sandoval, Blanca; Corton, Marta; Avila-Fernandez, Almudena; Ayuso, Carmen

Five years' experience of the clinical exome sequencing in a Spanish single center

西班牙某单一中心五年临床外显子组测序经验

Arteche-López, A; Ávila-Fernández, A; Riveiro Álvarez, R; Almoguera, B; Bustamante Aragonés, A; Martin-Merida, I; López Martínez, M A; Giménez Pardo, A; Vélez-Monsalve, C; Gallego Merlo, J; García Vara, I; Blanco-Kelly, F; Tahsin Swafiri, S; Lorda Sánchez, I; Trujillo Tiebas, M J; Ayuso, C

Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders

比较aCGH和全基因组测序在不同神经发育障碍中的诊断率

Martinez-Granero, Francisco; Blanco-Kelly, Fiona; Sanchez-Jimeno, Carolina; Avila-Fernandez, Almudena; Arteche, Ana; Bustamante-Aragones, Ana; Rodilla, Cristina; Rodríguez-Pinilla, Elvira; Riveiro-Alvarez, Rosa; Tahsin-Swafiri, Saoud; Trujillo-Tiebas, Maria Jose; Ayuso, Carmen; Rodríguez de Alba, Marta; Lorda-Sanchez, Isabel; Almoguera, Berta

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

西班牙6089例遗传性视网膜营养不良患者的遗传图谱及其治疗和流行病学意义

Perea-Romero, Irene; Gordo, Gema; Iancu, Ionut F; Del Pozo-Valero, Marta; Almoguera, Berta; Blanco-Kelly, Fiona; Carreño, Ester; Jimenez-Rolando, Belen; Lopez-Rodriguez, Rosario; Lorda-Sanchez, Isabel; Martin-Merida, Inmaculada; Pérez de Ayala, Lucia; Riveiro-Alvarez, Rosa; Rodriguez-Pinilla, Elvira; Tahsin-Swafiri, Saoud; Trujillo-Tiebas, Maria J; Garcia-Sandoval, Blanca; Minguez, Pablo; Avila-Fernandez, Almudena; Corton, Marta; Ayuso, Carmen