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

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy

MDGA2纯合功能缺失变异会导致发育性和癫痫性脑病。

Morsy, Heba; Kim, Hyeonho; Jang, Gyubin; Zaki, Maha S; Severino, Mariasavina; Abdelrazek, Ibrahim M; Hussien, Haytham; Self, Eleanor; Albaradie, Raidah Saleem; Bakur, Khadijah; Firoozfar, Zahra; Efthymiou, Stephanie; Noureldeen, Mahmoud M; Nabil, Amira; Alvi, Javeria Raza; Molavi, Fateme; Alavi, Shahryar; Alibakhshi, Reza; Topcu, Vehap; Mancilar, Hanifenur; Uctepe, Eyyup; Yesilyurt, Ahmet; Aldhalaan, Hesham; Showki Tous, Ehab Salah; Alhaddad, Bader; Elbendary, Hasnaa M; Scardamaglia, Annarita; Murphy, David; Yépez, Vicente A; Gagneur, Julien; Omar, Tarek I; Abd Elmaksoud, Marwa; Vandrovocova, Jana; Abdalla, Ebtessam; Reilly, Mary M; Sultan, Tipu; Alkuraya, Fowzan S; Gleeson, Joseph G; Um, Ji Won; Houlden, Henry; Ko, Jaewon; Maroofian, Reza

Modanovo: A Unified Model for Post-translational Modification-Aware De Novo Sequencing Using Experimental Spectra From In Vivo and Synthetic Peptides

Modanovo:一种利用体内和合成肽的实验光谱进行翻译后修饰感知从头测序的统一模型

Klaproth-Andrade, Daniela; Bruns, Yanik; Gabriel, Wassim; Nix, Christian; Bergant, Valter; Pichlmair, Andreas; Wilhelm, Mathias; Gagneur, Julien

Measuring outcomes of training in Empathetic Refutational Interviewing (ERI) for vaccine communication: Development and validation of the ERI Skills Inventory (ERISI)

衡量疫苗沟通中同理心反驳访谈(ERI)培训的效果:ERI技能清单(ERISI)的开发和验证

Karlsson, Linda C; Holford, Dawn; Anderson, Emma; Verger, Pierre; Gagneur, Arnaud; Gould, Virginia C; Cheng, Ron; Engmann, Dionne; Soveri, Anna; Lewandowsky, Stephan

Sustained impact of motivational interviewing on reducing vaccine hesitancy among postpartum mothers: A randomized control trial, Southeastern France, 2021 to 2022

动机式访谈对降低产后母亲疫苗犹豫的持续影响:一项随机对照试验,法国东南部,2021年至2022年

Ramalli, Lauriane; Cogordan, Chloé; Fressard, Lisa; Donato, Xavier; Biferi, Magalie; Verlomme, Valérie; Sonnier, Pierre; Meur, Hervé; Maradan, Gwenaelle; Bérenger, Cyril; Berthiaume, Patrick; Gagneur, Arnaud; Verger, Pierre

scooby: modeling multimodal genomic profiles from DNA sequence at single-cell resolution

Scooby:基于单细胞分辨率的DNA序列构建多模态基因组图谱

Hingerl, Johannes C; Martens, Laura D; Karollus, Alexander; Manz, Trevor; Buenrostro, Jason D; Theis, Fabian J; Gagneur, Julien

Nucleotide dependency analysis of genomic language models detects functional elements

基因组语言模型的核苷酸依赖性分析可检测功能元件

Tomaz da Silva, Pedro; Karollus, Alexander; Hingerl, Johannes; Galindez, Gihanna Sta Teresa; Wagner, Nils; Hernandez-Alias, Xavier; Incarnato, Danny; Gagneur, Julien

Splicing control by PHF5A is crucial for melanoma cell survival

PHF5A 的剪接控制对于黑色素瘤细胞的存活至关重要

Tina Meißgeier, Melanie Kappelmann-Fenzl, Sebastian Staebler, Ata Jadid Ahari, Christian Mertes, Julien Gagneur, Lisa Linck-Paulus, Anja Katrin Bosserhoff

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

An outlier approach: advancing diagnosis of neurological diseases through integrating proteomics into multi-omics guided exome reanalysis.

一种另辟蹊径的方法:通过将蛋白质组学整合到多组学指导的外显子组重新分析中,推进神经系统疾病的诊断

Chui Martin Man-Chun, Kwong Anna Ka-Yee, Leung Hiu Yu Cherie, Pang Chingyiu, Scheller Ines F, Wong Sheila Suet-Na, Fung Cheuk-Wing, Yépez Vicente A, Gagneur Julien, Mak Christopher Chun-Yu, Chung Brian Hon-Yin

Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases

表型驱动的基因组学可提高对未确诊神经肌肉疾病患儿的诊断水平

Estévez-Arias, Berta; Matalonga, Leslie; Yubero, Delia; Polavarapu, Kiran; Codina, Anna; Ortez, Carlos; Carrera-García, Laura; Expósito-Escudero, Jesica; Jou, Cristina; Meyer, Stefanie; Kilicarslan, Ozge Aksel; Aleman, Alberto; Thompson, Rachel; Luknárová, Rebeka; Esteve-Codina, Anna; Gut, Marta; Laurie, Steven; Demidov, German; Yépez, Vicente A; Beltran, Sergi; Gagneur, Julien; Topf, Ana; Lochmüller, Hanns; Nascimento, Andres; Hoenicka, Janet; Palau, Francesc; Natera-de Benito, Daniel