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

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

非编码RNA基因RNU4-2的双等位基因变异会导致一种隐性遗传的神经发育综合征,并伴有明显的白质改变。

Rius, Rocio; Blakes, Alexander J M; Chen, Yuyang; De Jonghe, Joachim; Lecoquierre, François; Dawes, Ruebena; Cogne, Benjamin; Kim, Hyung Chul; Alvi, Javeria R; Amblard, Florence; Ansari, Morad; Arlt, Annabelle; Austin-Tse, Christina; Baer, Sarah; Balasubramanian, Meena; Balton, Elsa V; Barcia, Giulia; Beleza-Meireles, Ana; Bernstein, Jonathan A; Beygo, Jasmin; Blanc, Pierre; Bramswig, Nuria C; Braun, Frederik; Buchzik, Daniel; Calame, Daniel G; Campbell, Jamie; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Depienne, Christel; Dipple, Katrina M; Dieux, Anne; Dixit, Abhijit; Dreyer, Lauren; Du, Haowei; El Chehadeh, Salima; Field, Michael; Ewans, Lisa J; Geiger, Vanessa; Gibbs, Richard A; Glass, Ian; Grunewald, Olivier; Gueguen, Paul; Haack, Tobias B; Hadj Abdallah, Hamza; Harbuz, Radu; Helbig, Ingo; Horvath, Judit; Hustinx, Alexander; Isidor, Bertrand; Jacquemont, Marie-Line; Jamie, Fraser; Jeanne, Médéric; Kessler, Riley; Klinkhammer, Hannah; Korenke, G Christoph; Kotzaeridou, Urania; Krawitz, Peter; Laurie, Steven; Leventer, Richard J; Levy, Rebecca J; Lupski, James R; Marijon, Pierre; McGinnis, Kaitlin E; Mendez, Rodrigo; Messaoud, Olfa; Nava, Caroline; Nizard, Mevyn; O'Donnell-Luria, Anne; O'Leary, Melanie C; Olivieri, Simone; Parida, Amitav; Pehlivan, Davut; Prentice, Anna Jenne; Posey, Jennifer E; Reuter, Chloe M; Satre, Véronique; Schluth-Bolard, Caroline; Smol, Thomas; Sultan, Tipu; Taylor, John; Thauvin-Robinetvin, Christel; Thevenon, Julien; Uebergang, Eloise; Ueberberg, Sandra; Vincent-Delorme, Catherine; Wassmer, Evangeline; Westwood, Emma; Wheeler, Matthew T; Gulec, Elif Yilmaz; Vanderver, Adeline; Vossough, Arastoo; Sanders, Stephan J; Banka, Siddharth; Findlay, Gregory M; MacArthur, Daniel G; Simons, Cas; Whiffin, Nicola

Widespread distribution of Alu/Alu-mediated genomic rearrangement predisposing to a broad range of Mendelian disease and cancer in human populations

Alu/Alu介导的基因组重排在人类群体中广泛分布,导致多种孟德尔遗传病和癌症的发生。

Duan, Ruizhi Vince; Du, Haowei; Pande, Shruti; Saad, Ahmed K; Atik, Meryem M; Jamsandekar, Minal; Coveler, Karen J; Dardas, Zain; Jhangiani, Shalini N; Posey, Jennifer E; Gibbs, Richard A; Lupski, James R

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders

神经元黏附分子星形胶质细胞1基因(ASTN1)的双等位基因变异会导致多种神经发育障碍

Levine, Jesse M; Calame, Daniel G; Sangermano, Riccardo; Du, Haowei; Saad, Ahmed; Lisfeld, Jasmin; Bierhals, Tatjana; Denecke, Jonas; Uctepe, Eyyup; Celik, Merve Yoldas; Yesilyurt, Ahmet; Yildiz Er, Hilal; Yilmaz Gulec, Elif; Mushiba, Aziza; Almontashiri, Naif; Gawlinski, Pawel; Wiszniewski, Wojciech; Karaca, Ender; Alabdi, Lama; Pehlivan, Davut; Marafi, Dana; Zaki, Maha S; Alkuraya, Fowzan S; Gleeson, Joseph G; Jhangiani, Shalini N; Gibbs, Richard A; Posey, Jennifer E; Bujakowska, Kinga M; Lupski, James R

Improving automated deep phenotyping through large language models using retrieval-augmented generation

利用检索增强生成技术,通过大型语言模型改进自动化深度表型分析

Garcia, Brandon T; Westerfield, Lauren; Yelemali, Priya; Gogate, Nikhita; Rivera-Munoz, E Andres; Du, Haowei; Dawood, Moez; Jolly, Angad; Lupski, James R; Posey, Jennifer E

An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families

一个集成的平台可以同时检测结构变异和单核苷酸变异,从而提高拷贝数检测的准确性,并揭示未确诊孟德尔遗传病家族中的致病等位基因。

Du, Haowei; Lun, Ming Yin; Gagarina, Lidiia; Bengtsson, Jesse D; Grochowski, Christopher M; Mehaffey, Michele G; Hwang, James Paul; Jhangiani, Shalini N; Bhamidipati, Sravya V; Muzny, Donna M; Poli, M Cecilia; Ochoa, Sebastian; Chinn, Ivan K; Lindstrand, Anna; Posey, Jennifer E; Gibbs, Richard A; Liu, Pengfei; Lupski, James R; Carvalho, Claudia M B

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.

UGGT1 双等位基因变异会导致先天性糖基化障碍

Dardas Zain, Harrold Laura, Calame Daniel G, Salter Claire G, Kikuma Takashi, Guay Kevin P, Ng Bobby G, Sano Kanae, Saad Ahmad K, Du Haowei, Sangermano Riccardo, Patankar Sohil G, Jhangiani Shalini N, Gürsoy Semra, Abdel-Hamid Mohamed S, Ahmed Mahmoud K H, Maroofian Reza, Kaiyrzhanov Rauan, Salayev Kamran, Jones Wendy D, Pérez Caballero Ana, McGavin Lucy, Spiller Michael, Durkie Miranda, Wood Nick, O'Grady Lauren, Goldenberg Paula, Neumeyer Ann M, Begtrup Amber, Abdel-Ghafar Sherif F, Zaki Maha S, Van Esch Hilde, Posey Jennifer E, Wenger Olivia K, Scott Ethan M, Bujakowska Kinga M, Gibbs Richard A, Pehlivan Davut, Marafi Dana, Leslie Joseph S, Ubeyratna Nishanka, Day Jacob, Owens Martina, Settle Jessica, Balkhy Soher, Tamim Abdullah, Alabdi Lama, Alkuraya Fowzan S, Takeda Yoichi, Freeze Hudson H, Hebert Daniel N, Lupski James R, Crosby Andrew H, Baple Emma L

Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32

基因组平衡之道:解读涉及 5p15.2、2q31.1 和 18q21.32 的复杂染色体畸变中的 DNA 重排

Dardas, Zain; Marafi, Dana; Duan, Ruizhi; Fatih, Jawid M; El-Rashidy, Omnia F; Grochowski, Christopher M; Carvalho, Claudia M B; Jhangiani, Shalini N; Bi, Weimin; Du, Haowei; Gibbs, Richard A; Posey, Jennifer E; Calame, Daniel G; Zaki, Maha S; Lupski, James R

Social support and technophobia in older patients with coronary heart disease: The mediating roles of eHealth literacy and healthcare technology self-efficacy

社会支持与老年冠心病患者的技术恐惧症:电子健康素养和医疗技术自我效能的中介作用

Zhao, Jianchun; Hu, Danqing; Du, Haowei; Wang, Haichao; Tu, Xiaomin; Wang, Aimin

'Shared efforts, brighter smiles': a protocol for a randomised controlled study on the effectiveness of a parent-child orofacial myofunctional therapy programme post-adenoidectomy

“共同努力,绽放更灿烂的笑容”:一项关于腺样体切除术后亲子口面部肌功能治疗方案有效性的随机对照研究方案

Du, Haowei; Zhao, Meng; Wei, Zhaoxia; Liu, Jianhua; Zhao, Jianchun; Wang, Aimin

Community-Driven Copy Number Variant Discovery at Scale: Results from a Rare Disease Genomics Hackathon

社区驱动的大规模拷贝数变异发现:罕见病基因组学黑客马拉松的成果

Lun, Ming Yin; Posey, Jennifer E; Bengtsson, Jesse D; Du, Haowei; Roy, Rituparna Sinha; Yang, Lei; Ochoa, Sebastian; Yuan, Bo; Gillentine, Maddie; Lindstrand, Anna; Carvalho, Claudia M B