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

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

Interlaboratory evaluation of high molecular weight DNA extraction methods for long-read sequencing and structural variant analysis.

用于长读长测序和结构变异分析的高分子量DNA提取方法的实验室间评价

Devonshire Alison S, Morata Jordi, Jubin Claire, Abreu Pereira Rui Pedro, Hernandez-Hernandez Laura, Yener Dilek, Cabannes Eric, McGinn Steven, Delepine Marc, Fund Cédric, Tonda Raúl, Heath Simon, Dabad Marc, Gutierrez-Cuesta Javier, Sanchez Escudero Ignacio, Frias-Lopez Maria Cristina, Cowen Simon, Whale Alexandra, Voss Thorsten, Deleuze Jean-François, Gut Ivo, Gut Marta, Foy Carole A

Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

更正:MTOR相关伊藤氏色素减退症伴神经发育异常的临床谱

Carmignac, Virginie; Mignot, Cyril; Blanchard, Emmanuelle; Kuentz, Paul; Aubriot-Lorton, Marie-Hélène; Parker, Victoria E R; Sorlin, Arthur; Fraitag, Sylvie; Courcet, Jean-Benoît; Duffourd, Yannis; Rodriguez, Diana; Knox, Rachel G; Polubothu, Satyamaanasa; Boland, Anne; Olaso, Robert; Delepine, Marc; Darmency, Véronique; Riachi, Melissa; Quelin, Chloé; Rollier, Paul; Goujon, Louise; Grotto, Sarah; Capri, Yline; Jacquemont, Marie-Line; Odent, Sylvie; Amram, Daniel; Chevarin, Martin; Vincent-Delorme, Catherine; Catteau, Benoît; Guibaud, Laurent; Arzimanoglou, Alexis; Keddar, Malika; Sarret, Catherine; Callier, Patrick; Bessis, Didier; Geneviève, David; Deleuze, Jean-François; Thauvin, Christel; Semple, Robert K; Philippe, Christophe; Rivière, Jean-Baptiste; Kinsler, Veronica A; Faivre, Laurence; Vabres, Pierre

Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization

细胞遗传学中的基因组测序:短读长测序和长读长测序方法在种系结构变异检测和表征中的比较

Uguen, Kévin; Jubin, Claire; Duffourd, Yannis; Bardel, Claire; Malan, Valérie; Dupont, Jean-Michel; El Khattabi, Laila; Chatron, Nicolas; Vitobello, Antonio; Rollat-Farnier, Pierre-Antoine; Baulard, Céline; Lelorch, Marc; Leduc, Aurélie; Tisserant, Emilie; Tran Mau-Them, Frédéric; Danjean, Vincent; Delepine, Marc; Till, Marianne; Meyer, Vincent; Lyonnet, Stanislas; Mosca-Boidron, Anne-Laure; Thevenon, Julien; Faivre, Laurence; Thauvin-Robinet, Christel; Schluth-Bolard, Caroline; Boland, Anne; Olaso, Robert; Callier, Patrick; Romana, Serge; Deleuze, Jean-François; Sanlaville, Damien

AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)

AP1S2 基因突变会导致 X 连锁 Dandy-Walker 畸形,伴有智力障碍、基底神经节疾病和癫痫发作(佩蒂格鲁综合征)。

Cacciagli, Pierre; Desvignes, Jean-Pierre; Girard, Nadine; Delepine, Marc; Zelenika, Diana; Lathrop, Mark; Lévy, Nicolas; Ledbetter, David H; Dobyns, William B; Villard, Laurent

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

自闭症谱系障碍中 SHANK 基因突变的荟萃分析:认知障碍严重程度的梯度变化

Leblond, Claire S; Nava, Caroline; Polge, Anne; Gauthier, Julie; Huguet, Guillaume; Lumbroso, Serge; Giuliano, Fabienne; Stordeur, Coline; Depienne, Christel; Mouzat, Kevin; Pinto, Dalila; Howe, Jennifer; Lemière, Nathalie; Durand, Christelle M; Guibert, Jessica; Ey, Elodie; Toro, Roberto; Peyre, Hugo; Mathieu, Alexandre; Amsellem, Frédérique; Rastam, Maria; Gillberg, I Carina; Rappold, Gudrun A; Holt, Richard; Monaco, Anthony P; Maestrini, Elena; Galan, Pilar; Heron, Delphine; Jacquette, Aurélia; Afenjar, Alexandra; Rastetter, Agnès; Brice, Alexis; Devillard, Françoise; Assouline, Brigitte; Laffargue, Fanny; Lespinasse, James; Chiesa, Jean; Rivier, François; Bonneau, Dominique; Regnault, Beatrice; Zelenika, Diana; Delepine, Marc; Lathrop, Mark; Sanlaville, Damien; Schluth-Bolard, Caroline; Edery, Patrick; Perrin, Laurence; Tabet, Anne Claude; Schmeisser, Michael J; Boeckers, Tobias M; Coleman, Mary; Sato, Daisuke; Szatmari, Peter; Scherer, Stephen W; Rouleau, Guy A; Betancur, Catalina; Leboyer, Marion; Gillberg, Christopher; Delorme, Richard; Bourgeron, Thomas

Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.

BCAP31 基因突变会导致严重的 X 连锁表型,表现为耳聋、肌张力障碍、中枢髓鞘形成不足,并破坏高尔基体

Cacciagli Pierre, Sutera-Sardo Julie, Borges-Correia Ana, Roux Jean-Christophe, Dorboz Imen, Desvignes Jean-Pierre, Badens Catherine, Delepine Marc, Lathrop Mark, Cau Pierre, Lévy Nicolas, Girard Nadine, Sarda Pierre, Boespflug-Tanguy Odile, Villard Laurent

The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study

CALHM1 P86L多态性是阿尔茨海默病发病年龄的遗传修饰因子:一项荟萃分析研究

Lambert, Jean-Charles; Sleegers, Kristel; González-Pérez, Antonio; Ingelsson, Martin; Beecham, Gary W; Hiltunen, Mikko; Combarros, Onofre; Bullido, Maria J; Brouwers, Nathalie; Bettens, Karolien; Berr, Claudine; Pasquier, Florence; Richard, Florence; Dekosky, Steven T; Hannequin, Didier; Haines, Jonathan L; Tognoni, Gloria; Fiévet, Nathalie; Dartigues, Jean-François; Tzourio, Christophe; Engelborghs, Sebastiaan; Arosio, Beatrice; Coto, Elicer; De Deyn, Peter; Del Zompo, Maria; Mateo, Ignacio; Boada, Merce; Antunez, Carmen; Lopez-Arrieta, Jesus; Epelbaum, Jacques; Schjeide, Brit-Maren Michaud; Frank-Garcia, Ana; Giedraitis, Vilmentas; Helisalmi, Seppo; Porcellini, Elisa; Pilotto, Alberto; Forti, Paola; Ferri, Raffaele; Delepine, Marc; Zelenika, Diana; Lathrop, Mark; Scarpini, Elio; Siciliano, Gabriele; Solfrizzi, Vincenzo; Sorbi, Sandro; Spalletta, Gianfranco; Ravaglia, Giovanni; Valdivieso, Fernando; Vepsäläinen, Saila; Alvarez, Victoria; Bosco, Paolo; Mancuso, Michelangelo; Panza, Francesco; Nacmias, Benedetta; Bossù, Paola; Hanon, Olivier; Piccardi, Paola; Annoni, Giorgio; Mann, David; Marambaud, Philippe; Seripa, Davide; Galimberti, Daniela; Tanzi, Rudolph E; Bertram, Lars; Lendon, Corinne; Lannfelt, Lars; Licastro, Federico; Campion, Dominique; Pericak-Vance, Margaret A; Soininen, Hilkka; Van Broeckhoven, Christine; Alpérovitch, Annick; Ruiz, Agustin; Kamboh, M Ilyas; Amouyel, Philippe