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

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

U4 和 U6 snRNA 基因的新生突变和遗传性显性突变会导致视网膜色素变性。

Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; AlTalbishi, Ala'a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Burin des Roziers, Cyril; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fenner, Beau J; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B 4th; Inglehearn, Chris F; Iwata, Takeshi; Jensson, Brynjar O; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C W; Knézy, Krisztina; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leibu, Rina; Leroy, Bart P; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R de J; Mahieu, Quinten; Mahroo, Omar A; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina G; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Thiadens, Alberta A H J; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J M; Vincent, Andrea L; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Lin, Siying; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Roosing, Susanne; Rivolta, Carlo

Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study

小型基因检测组合在肾脏疾病诊断中的应用价值和临床意义:一项多中心回顾性欧洲研究

Giovanella, Silvia; Poyatos-Andújar, Antonio Miguel; Garcia, Maria Mar Aguila; Avila-Fernandez, Almudena; Bustamante-Aragonés, Ana; Ayuso, Carmen; Percesepe, Antonio; Martorana, Davide; Ferri, Maria; Terracciano, Alessandra; Massella, Laura; Chester, Johanna; Testa, Francesca; Ligabue, Giulia; Ferrarini, Marco; Gibertoni, Dino; Alfano, Gaetano; Tenedini, Elena; Artuso, Lucia; Marino, Marco; Calabrese, Olga; Tagliafico, Enrico; Magistroni, Riccardo

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

Shorter leukocyte telomere length is associated with distinct CSF biomarker dynamics across early AD stages in at‐risk individuals

在有风险的个体中,白细胞端粒长度较短与早期阿尔茨海默病阶段脑脊液生物标志物的不同动态变化相关。

Gornik, Heather L; Aronow, Herbert D; Goodney, Philip P; Arya, Shipra; Brewster, Luke Packard; Byrd, Lori; Chandra, Venita; Drachman, Douglas E; Eaves, Jennifer M; Ehrman, Jonathan K; Evans, John N; Getchius, Thomas S D; Gutiérrez, J Antonio; Hawkins, Beau M; Hess, Connie N; Ho, Karen J; Jones, W Schuyler; Kim, Esther S H; Kinlay, Scott; Kirksey, Lee; Kohlman-Trigoboff, Debra; Long, Chandler A; Pollak, Amy West; Sabri, Saher S; Sadwin, Lawrence B; Secemsky, Eric A; Serhal, Maya; Shishehbor, Mehdi H; Treat-Jacobson, Diane; Wilkins, Luke R; Casquero‐Veiga, Marta; Ceron, Carlos; Lamanna‐Rama, Nicolás; Fernandez‐Nueda, Irene; Rubio‐Retama, Jorge; Fuster, Valentin; Moro, Maria Angeles; Desco, Manuel; Herranz, Fernando; Salinas, Beatriz; Cortes‐Canteli, Marta; Monereo‐Sánchez, Jennifer; Tristão‐Pereira, Catarina; Fuster, Valentin; Lopez‐Jimenez, Alejandro; Fernández‐Pena, Alberto; Semerano, Aurora; Fernandez‐Nueda, Irene; Garcia‐Lunar, Ines; Ayuso, Carmen; Sanchez‐Gonzalez, Javier; Ibañez, Borja; Gispert, Juan Domingo; Cortes‐Canteli, Marta; Pelkmans, Wiesje; Shekari, Mahnaz; Escalante, Armand González; Kollmorgen, Gwendlyn; Quijano‐Rubio, Clara; Blennow, Kaj; Zetterberg, Henrik; Gispert, Juan Domingo; Suárez‐Calvet, Marc; Salvadó, Gemma; Rodríguez‐Fernández, Blanca; Escalante, Armand González; Genius, Patricia; Evans, Tavia E; Ortiz‐Romero, Paula; Minguillón, Carolina; Kollmorgen, Gwendlyn; Ashton, Nicholas J; Zetterberg, Henrik; Blennow, Kaj; Gispert, Juan Domingo; Navarro, Arcadi; Suarez‐Calvet, Marc; Sala‐Vila, Aleix; Crous‐Bou, Marta; Vilor‐Tejedor, Natalia

RetiGene, a comprehensive gene atlas for inherited retinal diseases

RetiGene,一个全面的遗传性视网膜疾病基因图谱

Rivolta, Carlo; Celik, Elifnaz; Kamdar, Dhryata; Cancellieri, Francesca; Kaminska, Karolina; Ullah, Mukhtar; Barberán-Martínez, Pilar; Bouckaert, Manon; Cortón, Marta; Delanote, Emma; Fernández-Caballero, Lidia; García García, Gema; Holtes, Lara K; Karali, Marianthi; Lopez, Irma; Peter, Virginie G; Schneider, Nina; Vincke, Lieselot; Ayuso, Carmen; Banfi, Sandro; Bocquet, Beatrice; Coppieters, Frauke; Cremers, Frans P M; Inglehearn, Chris F; Iwata, Takeshi; Kalatzis, Vasiliki; Koenekoop, Robert K; Millán, José M; Sharon, Dror; Toomes, Carmel; Quinodoz, Mathieu

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.

编码囊泡 AP-5 复合物不同亚基的三个基因的双等位基因变异会导致遗传性黄斑营养不良

Kaminska Karolina, Cancellieri Francesca, Quinodoz Mathieu, Moye Abigail R, Bauwens Miriam, Lin Siying, Janeschitz-Kriegl Lucas, Hayman Tamar, Barberán-Martínez Pilar, Schlaeger Regina, Van den Broeck Filip, Ávila Fernández Almudena, Fernández-Caballero Lidia, Perea-Romero Irene, García-García Gema, Salom David, Mazzola Pascale, Zuleger Theresia, Poths Karin, Haack Tobias B, Jacob Julie, Vermeer Sascha, Terbeek Frédérique, Feltgen Nicolas, Moulin Alexandre P, Koutroumanou Louisa, Papadakis George, Browning Andrew C, Madhusudhan Savita, Gränse Lotta, Banin Eyal, Sousa Ana Berta, Coutinho Santos Luisa, Kuehlewein Laura, De Angeli Pietro, Leroy Bart P, Mahroo Omar A, Sedgwick Fay, Eden James, Pfau Maximilian, Andréasson Sten, Scholl Hendrik P N, Ayuso Carmen, Millán José M, Sharon Dror, Tsilimbaris Miltiadis K, Vaclavik Veronika, Tran Hoai V, Ben-Yosef Tamar, De Baere Elfride, Webster Andrew R, Arno Gavin, Sergouniotis Panagiotis I, Kohl Susanne, Santos Cristina, Rivolta Carlo

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy

POC5基因的双等位基因功能缺失变异会导致视网膜、内分泌和神经肌肉纤毛病综合征。

Vulto-van Silfhout, Anneke T; Jazet, Ingrid M; Yzer, Suzanne; Pas, Jeroen; Demirdas, Serwet; van Rossum, Elisabeth F C; Thiadens, Alberta A H J; van Beek, Ronald; Haer-Wigman, Lonneke; Barge-Schaapveld, Daniela Q C M; Brasch-Andersen, Charlotte; Frost, Simon; Bauwens, Miriam; De Baere, Elfride; Balikova, Irina; Van den Broeck, Filip; Weisz-Hubshman, Monika; Joset, Pascal; Miny, Peter; Filges, Isabel; Kohl, Susanne; De Angeli, Pietro; Kühlewein, Laura; Bodenbender, Jan-Philipp; Haack, Tobias; Poths, Karin; Fernandez-Caballero, Lidia; Corton, Marta; Blanco Kelly, Fiona; Ayuso, Carmen; Martínez-Esteban, Peggy; Vissing, John; Díaz-Manera, Jordi; Straub, Volker; Töpf, Ana; Lin, Siying; Arno, Gavin; Macken, William L; Spillane, Jennifer; Ramachandran, Radha; de Vrieze, Erik; van Ham, Tjakko; Roosing, Susanne; Oud, Machteld M

Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies

长读长全基因组测序作为遗传性视网膜营养不良变异检测的工具

Rodilla, Cristina; Núñez-Moreno, Gonzalo; Benitez, Yolanda; Rodríguez de Alba, Marta; Blanco-Kelly, Fiona; López-Alcojor, Aroa; Fernández-Caballero, Lidia; Perea-Romero, Irene; Del Pozo-Valero, Marta; García-García, Gema; Balanzá, Mar; Villaverde, Cristina; Zurita, Olga; Jubin, Claire; Fund, Cedric; Delepine, Marc; Leduc, Aurelie; Deleuze, Jean-François; Millán, José M; Minguez, Pablo; Corton, Marta; Ayuso, Carmen

GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations

GJA8相关发育性眼病:一项新的多中心研究揭示了突变热点和基因型-表型相关性

Merepa, Solomon S; Reis, Linda M; Damián, Alejandra; Bardakjian, Tanya; Schneider, Adele; Trujillo-Tiebas, María Jose; Ayuso, Carmen; Galarza, Laura Cortázar; Saez Villaverde, Raquel; Ortiz-Cabrera, Nelmar Valentina; Bax, Dorine A; Holt, Richard; Ceroni, Fabiola; Edery, Patrick; Grelet, Maude; Riccardi, Florence; Maillard, Lauriane; Costakos, Deborah; Plaisancié, Julie; Chassaing, Nicolas; Corton, Marta; Semina, Elena V; Ragge, Nicola K

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