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

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

对泛欧洲罕见病资源进行基因组重新分析,得出新的诊断结果

Laurie, Steven; Steyaert, Wouter; de Boer, Elke; Polavarapu, Kiran; Schuermans, Nika; Sommer, Anna K; Demidov, German; Ellwanger, Kornelia; Paramonov, Ida; Thomas, Coline; Aretz, Stefan; Baets, Jonathan; Benetti, Elisa; Bullich, Gemma; Chinnery, Patrick F; Clayton-Smith, Jill; Cohen, Enzo; Danis, Daniel; de Sainte Agathe, Jean-Madeleine; Denommé-Pichon, Anne-Sophie; Diaz-Manera, Jordi; Efthymiou, Stephanie; Faivre, Laurence; Fernandez-Callejo, Marcos; Freeberg, Mallory; Garcia-Pelaez, José; Guillot-Noel, Lena; Haack, Tobias B; Hanna, Mike; Hengel, Holger; Horvath, Rita; Houlden, Henry; Jackson, Adam; Johansson, Lennart; Johari, Mridul; Kamsteeg, Erik-Jan; Kellner, Melanie; Kleefstra, Tjitske; Lacombe, Didier; Lochmüller, Hanns; López-Martín, Estrella; Macaya, Alfons; Marcé-Grau, Anna; Maver, Aleš; Morsy, Heba; Muntoni, Francesco; Musacchia, Francesco; Nelson, Isabelle; Nigro, Vincenzo; Olimpio, Catarina; Oliveira, Carla; Paulasová Schwabová, Jaroslava; Pauly, Martje G; Peterlin, Borut; Peters, Sophia; Pfundt, Rolph; Piluso, Giulio; Piscia, Davide; Posada, Manuel; Reich, Selina; Renieri, Alessandra; Ryba, Lukas; Šablauskas, Karolis; Savarese, Marco; Schöls, Ludger; Schütz, Leon; Steinke-Lange, Verena; Stevanin, Giovanni; Straub, Volker; Sturm, Marc; Swertz, Morris A; Tartaglia, Marco; Te Paske, Iris B A W; Thompson, Rachel; Torella, Annalaura; Trainor, Christina; Udd, Bjarne; Van de Vondel, Liedewei; van de Warrenburg, Bart; van Reeuwijk, Jeroen; Vandrovcova, Jana; Vitobello, Antonio; Vos, Janet; Vyhnálková, Emílie; Wijngaard, Robin; Wilke, Carlo; William, Doreen; Xu, Jishu; Yaldiz, Burcu; Zalatnai, Luca; Zurek, Birte; Brookes, Anthony J; Evangelista, Teresinha; Gilissen, Christian; Graessner, Holm; Hoogerbrugge, Nicoline; Ossowski, Stephan; Riess, Olaf; Schüle, Rebecca; Synofzik, Matthis; Verloes, Alain; Matalonga, Leslie; Brunner, Han G; Lohmann, Katja; de Voer, Richarda M; Töpf, Ana; Vissers, Lisenka E L M; Beltran, Sergi; Hoischen, Alexander

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

出版商更正:对泛欧洲罕见病资源进行基因组重新分析,得出新的诊断结果

Laurie, Steven; Steyaert, Wouter; de Boer, Elke; Polavarapu, Kiran; Schuermans, Nika; Sommer, Anna K; Demidov, German; Ellwanger, Kornelia; Paramonov, Ida; Thomas, Coline; Aretz, Stefan; Baets, Jonathan; Benetti, Elisa; Bullich, Gemma; Chinnery, Patrick F; Clayton-Smith, Jill; Cohen, Enzo; Danis, Daniel; de Sainte Agathe, Jean-Madeleine; Denommé-Pichon, Anne-Sophie; Diaz-Manera, Jordi; Efthymiou, Stephanie; Faivre, Laurence; Fernandez-Callejo, Marcos; Freeberg, Mallory; Garcia-Pelaez, José; Guillot-Noel, Lena; Haack, Tobias B; Hanna, Mike; Hengel, Holger; Horvath, Rita; Houlden, Henry; Jackson, Adam; Johansson, Lennart; Johari, Mridul; Kamsteeg, Erik-Jan; Kellner, Melanie; Kleefstra, Tjitske; Lacombe, Didier; Lochmüller, Hanns; López-Martín, Estrella; Macaya, Alfons; Marcé-Grau, Anna; Maver, Aleš; Morsy, Heba; Muntoni, Francesco; Musacchia, Francesco; Nelson, Isabelle; Nigro, Vincenzo; Olimpio, Catarina; Oliveira, Carla; Paulasová Schwabová, Jaroslava; Pauly, Martje G; Peterlin, Borut; Peters, Sophia; Pfundt, Rolph; Piluso, Giulio; Piscia, Davide; Posada, Manuel; Reich, Selina; Renieri, Alessandra; Ryba, Lukas; Šablauskas, Karolis; Savarese, Marco; Schöls, Ludger; Schütz, Leon; Steinke-Lange, Verena; Stevanin, Giovanni; Straub, Volker; Sturm, Marc; Swertz, Morris A; Tartaglia, Marco; Te Paske, Iris B A W; Thompson, Rachel; Torella, Annalaura; Trainor, Christina; Udd, Bjarne; Van de Vondel, Liedewei; van de Warrenburg, Bart; van Reeuwijk, Jeroen; Vandrovcova, Jana; Vitobello, Antonio; Vos, Janet; Vyhnálková, Emílie; Wijngaard, Robin; Wilke, Carlo; William, Doreen; Xu, Jishu; Yaldiz, Burcu; Zalatnai, Luca; Zurek, Birte; Brookes, Anthony J; Evangelista, Teresinha; Gilissen, Christian; Graessner, Holm; Hoogerbrugge, Nicoline; Ossowski, Stephan; Riess, Olaf; Schüle, Rebecca; Synofzik, Matthis; Verloes, Alain; Matalonga, Leslie; Brunner, Han G; Lohmann, Katja; de Voer, Richarda M; Töpf, Ana; Vissers, Lisenka E L M; Beltran, Sergi; Hoischen, Alexander

Sleep, pericyte subtypes and cognitive decline in adults with and without Alzheimer's disease

睡眠、周细胞亚型与患有和未患有阿尔茨海默病的成年人的认知能力下降

Hamid, Mahnoor; Saha Detroja, Trishna; Tripathy, Shreejoy J; Menon, Vilas; Xu, Jishu; Yu, Lei; Wang, Yanling; Buchman, Aron S; Bennett, David A; De Jager, Philip L; Lim, Andrew S P

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

Long-read RNA-sequencing reveals transcript-specific regulation in human-derived cortical neurons.

长读长RNA测序揭示了人类皮层神经元中转录本特异性调控

Xu Jishu, Hörner Michaela, Atienza Elena Buena, Manibarathi Kalaivani, Nagel Maike, Hauser Stefan, Admard Jakob, Casadei Nicolas, Ossowski Stephan, Schuele Rebecca

Unravelling axonal transcriptional landscapes: insights from induced pluripotent stem cell-derived cortical neurons and implications for motor neuron degeneration.

揭示轴突转录图景:来自诱导多能干细胞衍生皮层神经元的见解及其对运动神经元退化的影响

Xu Jishu, Hörner Michaela, Nagel Maike, Perhat Perwin, Korneck Milena, Noß Marvin, Hauser Stefan, Schoels Ludger, Admard Jakob, Casadei Nicolas, Schuele Rebecca

Integrated Spatial and Single-Nuclei Transcriptomic Analysis of Long Non-Coding RNAs in Alzheimer's Disease

阿尔茨海默病中长链非编码RNA的空间和单核转录组整合分析

Ng, Bernard; Avey, Denis R; Sultan, Faraz; de Paiva Lopes, Katia; Fujita, Masashi; Saunders, Devin; Vialle, Ricardo A; Vyas, Himanshu; Kearns, Nicola A; Tasaki, Shinya; Iatrou, Artemis; De Tissera, Sashini; Lagrimas, Amiko Krisa; Chang, Tien-Hao; Xu, Jishu; Yu, Chunjiang; Menon, Vilas; Gaiteri, Chris; De Jager, Philip L; Bennett, David A; Wang, Yanling

Uncovering plaque-glia niches in human Alzheimer's disease brains using spatial transcriptomics

利用空间转录组学揭示人类阿尔茨海默病大脑中的斑块-胶质细胞微环境

Avey, Denis R; Ng, Bernard; Vialle, Ricardo A; Kearns, Nicola A; de Paiva Lopes, Katia; Iatrou, Artemis; De Tissera, Sashini; Vyas, Himanshu; Saunders, Devin M; Flood, Daniel J; Xu, Jishu; Tasaki, Shinya; Gaiteri, Chris; Bennett, David A; Wang, Yanling

A Multi-omic Atlas of Human Choroid Plexus in Alzheimer's Disease

阿尔茨海默病患者脉络丛的多组学图谱

Philippe, Tristan J; Avey, Denis R; Kearns, Nicola A; Vyas, Himanshu; Tissera, Sashini De; Xu, Jishu; Ng, Bernard; Saunders, Devin M; Lagrimas, Amiko K; Duong, Duc; Seyfried, Nicholas T; Bennett, David A; Wang, Yanling

SR-TWAS: leveraging multiple reference panels to improve transcriptome-wide association study power by ensemble machine learning

SR-TWAS:利用多个参考面板,通过集成机器学习提高转录组关联研究的效力

Parrish, Randy L; Buchman, Aron S; Tasaki, Shinya; Wang, Yanling; Avey, Denis; Xu, Jishu; De Jager, Philip L; Bennett, David A; Epstein, Michael P; Yang, Jingjing