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

Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing

将威尔逊-荣格纳原则应用于基因组学时代:国际新生儿测序联盟的共识建议

Downie, Lilian; Yeo, Julie; Minten, Thomas; Heald, Rose; Ansel, Derek; Baker, Mei; Balciuniene, Jorune; Berg, Jonathan S; Boemer, François; Chung, Wendy K; Cope, Heidi L; Eckstein, David J; Encina, Nicolas; Faivre, Laurence; Ferlini, Alessandra; García-Villoria, Judit; Gelb, Michael H; González De Aledo-Castillo, José Manuel; Golden-Grant, Katie; Parad, Richard B; Shah, Nidhi; Stark, Zornitza; Sund, Kristen L; Tsipouras, Petros; To, Meekai; Bick, David; Green, Robert C; Gold, Nina B

Correlative multimodal imaging for microscale spatial mapping of collagen-gene activity interactions in human tissues

利用关联多模态成像技术对人体组织中胶原蛋白-基因活性相互作用进行微尺度空间映射

Scodellaro, Riccardo; Mietto, Martina; Ferlini, Alessandra; Alves, Frauke

Characterization of a novel FLI1 mutation in a family with thrombocytopenia and other congenital malformations.

对一个患有血小板减少症和其他先天性畸形的家族中发现的新型 FLI1 突变进行表征。

Ammeti Daniele, Barozzi Serena, Pecci Alessandro, Zanchetta Melania Eva, Cesnik Edward, Ferlini Alessandra, Sanchini Mariabeatrice, Verga Laura, Bozzi Valeria, Corsolini Fabio, Faleschini Michela, Savoia Anna, Bigoni Stefania

Data-driven consideration of genetic disorders for global genomic newborn screening programs

基于数据驱动的遗传疾病考量,用于全球新生儿基因组筛查项目

Minten, Thomas; Bick, Sarah; Adelson, Sophia; Gehlenborg, Nils; Amendola, Laura M; Boemer, François; Coffey, Alison J; Encina, Nicolas; Ferlini, Alessandra; Kirschner, Janbernd; Russell, Bianca E; Servais, Laurent; Sund, Kristen L; Taft, Ryan J; Tsipouras, Petros; Zouk, Hana; Bick, David; Green, Robert C; Gold, Nina B

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing

利用高保真长读长基因组测序揭示未确诊的罕见病病例

Steyaert, Wouter; Sagath, Lydia; Demidov, German; Yépez, Vicente A; Esteve-Codina, Anna; Gagneur, Julien; Ellwanger, Kornelia; Derks, Ronny; Weiss, Marjan; den Ouden, Amber; van den Heuvel, Simone; Swinkels, Hilde; Zomer, Nick; Steehouwer, Marloes; O'Gorman, Luke; Astuti, Galuh; Neveling, Kornelia; Schüle, Rebecca; Xu, Jishu; Synofzik, Matthis; Beijer, Danique; Hengel, Holger; Schöls, Ludger; Claeys, Kristl G; Baets, Jonathan; Van de Vondel, Liedewei; Ferlini, Alessandra; Selvatici, Rita; Morsy, Heba; Saeed Abd Elmaksoud, Marwa; Straub, Volker; Müller, Juliane; Pini, Veronica; Perry, Luke; Sarkozy, Anna; Zaharieva, Irina; Muntoni, Francesco; Bugiardini, Enrico; Polavarapu, Kiran; Horvath, Rita; Reid, Evan; Lochmüller, Hanns; Spinazzi, Marco; Savarese, Marco; Matalonga, Leslie; Laurie, Steven; Brunner, Han G; Graessner, Holm; Beltran, Sergi; Ossowski, Stephan; Vissers, Lisenka E L M; Gilissen, Christian; Hoischen, Alexander

Modulation of the JAK2-STAT3 pathway promotes expansion and maturation of human iPSC-derived myogenic progenitor cells

调控JAK2-STAT3通路可促进人诱导多能干细胞来源的成肌祖细胞的扩增和成熟。

Caputo, Luca; Stamenkovic, Cedomir; Tierney, Matthew T; Cecchini, Alessandra; Nicolau, Monica; Guarnaccia, Gabriele; Barajas, Jesus R; Falzarano, Maria Sofia; Bassel-Duby, Rhonda; Ferlini, Alessandra; Olson, Eric N; Puri, Pier Lorenzo; Sacco, Alessandra

Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report

一项针对患有VI型胶原蛋白相关肌病的大型意大利队列的COL6A1、COL6A2和COL6A3致病变异的全国性报告

Fortunato, Fernanda; Fiocco, Laura; Margutti, Alice; Neri, Marcella; D'Amico, Adele; Bertini, Enrico; Ricci, Enzo; Mercuri, Eugenio Maria; Pane, Marika; Massa, Roberto; Greco, Giulia; Berardinelli, Angela Lucia; Cereda, Cristina; Pini, Antonella; Merlini, Luciano; Fusco, Carlo; Rodolico, Carmelo; Messina, Sonia; Fiorillo, Chiara; Bruno, Claudio; Pedemonte, Marina; Traverso, Monica; Moroni, Isabella; Maggi, Lorenzo; Gibertini, Sara; Pegoraro, Elena; Picillo, Esther; Politano, Luisa; Scutifero, Marianna; Vercellino, Fabiana; Massaro, Francesca; Filosto, Massimiliano; Gasparini, Paolo; Ricci, Federica; Mongini, Tiziana Enrica; Selvatici, Rita; Ferlini, Alessandra; Gualandi, Francesca

MECP2 mRNA Profile in Brain Tissues from a Rett Syndrome Patient and Three Human Controls: Mutated Allele Preferential Transcription and In Situ RNA Mapping.

Rett 综合征患者和三名人类对照者脑组织中 MECP2 mRNA 的表达谱:突变等位基因优先转录和原位 RNA 定位

Mietto Martina, Montanari Silvia, Falzarano Maria Sofia, Manzati Elisa, Rimessi Paola, Fabris Marina, Selvatici Rita, Gualandi Francesca, Neri Marcella, Fortunato Fernanda, Foti Miryam Rosa Stella, Bigoni Stefania, Gessi Marco, Vacca Marcella, Torelli Silvia, Hayek Joussef, Ferlini Alessandra

The most bothersome symptoms in neuromuscular diseases: the ERN EURO NMD Survey

神经肌肉疾病中最令人困扰的症状:ERN EURO NMD 调查

Mancuso, Michelangelo; Colitta, Alessandro; Lavorato, Manuela; Van den Bergh, Peter; Kirschner, Janbernd; Kornblum, Cornelia; Maggi, Lorenzo; Lamy, Francois; Lochmüller, Hanns; Nordstrøm, Marianne; Malfatti, Edoardo; Ferlini, Alessandra; Pareyson, Davide; Silani, Vincenzo; Kleopa, Kleopas A; de Visser, Marianne; Atalaia, Antonio; Evangelista, Teresinha

TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project

TREAT:作为Screen4Care项目的一部分,用于新生儿基因组筛查的系统性和包容性基因选择过程。

Saier, Christina; Sansen, Stefaan; Berghout, Joanne; Freyler, Kathrin; Einhorn, Moshe; Einhorn, Yaron; Matalonga, Leslie; Beltran, Sergi; Novelli, Antonio; Selvatici, Rita; Fortunato, Fernanda; Montanari, Silvia; Martinez-Fresno, Maria; Gumus, Gulcin; Agolini, Emanuele; Garnier, Nicolas; Ferlini, Alessandra; Bertini, Enrico; Kirschner, Janbernd