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

Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library

对5412名罕见病患者进行基于血液的RNA测序,在国家基因组研究图书馆中发现了新的候选诊断。

Lord, Jenny; Pagnamenta, Alistair T; Vestito, Letizia; Walker, Susan; Oquendo, Carolina Jaramillo; McGuigan, Anthony Ef; Ho, Alexander; Odhams, Christopher; Jacobsen, Julius Ob; Mehta, Sarju; Reid, Evan; O'Driscoll, Mary; Watson, Christopher M; Crinnion, Laura A; Robinson, Rachel L; Musgrave, Hannah; Martin, Richard J; James, Terena P; Ross, Mark T; Kyritsi, Marianna; Carnielli, Leonardo; Walker, Nicholas; Vucenovic, Dunja; Maheswari, Uma; Baralle, Francisco E; Taylor, Jenny C; Ellingford, Jamie M; Kasperaviciute, Dalia; Hoa, Lily; Elgar, Greg; Brown, Matthew A; Smedley, Damian; Baralle, Diana

Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder

DDX17基因的单等位基因新生突变会导致神经发育障碍

Seaby, Eleanor G; Godwin, Annie; Meyer-Dilhet, Géraldine; Clerc, Valentine; Grand, Xavier; Fletcher, Tia; Monteiro, Laloe; Kerkhofs, Martijn; Carelli, Valerio; Palombo, Flavia; Seri, Marco; Olivucci, Giulia; Grippa, Mina; Ciaccio, Claudia; D'Arrigo, Stefano; Iascone, Maria; Bermudez, Marion; Fischer, Jan; Di Donato, Nataliya; Goesswein, Sophie; Leung, Marco L; Koboldt, Daniel C; Myers, Cortlandt; Arnadottir, Gudny Anna; Stefansson, Kari; Sulem, Patrick; Goldberg, Ethan M; Bruel, Ange-Line; Tran-Mau-Them, Frederic; Willems, Marjolaine; Bjornsson, Hans Tomas; Hognason, Hakon Bjorn; Thorolfsdottir, Eirny Tholl; Agolini, Emanuele; Novelli, Antonio; Zampino, Giuseppe; Onesimo, Roberta; Lachlan, Katherine; Baralle, Diana; Rehm, Heidi L; O'Donnell-Luria, Anne; Courchet, Julien; Guille, Matt; Bourgeois, Cyril F; Ennis, Sarah

Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease

对 8040 名未确诊的罕见病患者进行系统性致病启动子和非翻译区变异的鉴定

Martin-Geary, Alexandra C; Blakes, Alexander J M; Dawes, Ruebena; Findlay, Scott D; Lord, Jenny; Dong, Shan; Walker, Susan; Talbot-Martin, Jonathan; Wieder, Nechama; D'Souza, Elston N; Fernandes, Maria; Hilton, Sarah; Lahiri, Nayana; Campbell, Christopher; Jenkinson, Sarah; DeGoede, Christian G E L; Anderson, Emily R; Candler, Toby; Firth, Helen; Burge, Christopher B; Sanders, Stephan J; Ellingford, Jamie; Baralle, Diana; Banka, Siddharth; Whiffin, Nicola

Whole RNA-Seq Analysis Reveals Longitudinal Proteostasis Network Responses to Photoreceptor Outer Segment Trafficking and Degradation in RPE Cells

全RNA测序分析揭示RPE细胞中光感受器外节运输和降解的纵向蛋白质稳态网络反应

Miller, Rebecca D; Mondon, Isaac; Ellis, Charles; Muir, Anna-Marie; Turner, Stephanie; Keeling, Eloise; Wai, Htoo A; Chatelet, David S; Johnson, David A; Tumbarello, David A; Lotery, Andrew J; Baralle, Diana; Ratnayaka, J Arjuna

Predicting the impact of rare variants on RNA splicing in CAGI6

预测罕见变异对CAGI6中RNA剪接的影响

Lord, Jenny; Oquendo, Carolina Jaramillo; Wai, Htoo A; Douglas, Andrew G L; Bunyan, David J; Wang, Yaqiong; Hu, Zhiqiang; Zeng, Zishuo; Danis, Daniel; Katsonis, Panagiotis; Williams, Amanda; Lichtarge, Olivier; Chang, Yuchen; Bagnall, Richard D; Mount, Stephen M; Matthiasardottir, Brynja; Lin, Chiaofeng; Hansen, Thomas van Overeem; Leman, Raphael; Martins, Alexandra; Houdayer, Claude; Krieger, Sophie; Bakolitsa, Constantina; Peng, Yisu; Kamandula, Akash; Radivojac, Predrag; Baralle, Diana

Uplift of genetic diagnosis of rare respiratory disease using airway epithelium transcriptome analysis

利用气道上皮转录组分析提升罕见呼吸系统疾病的基因诊断水平

Legebeke, Jelmer; Wheway, Gabrielle; Baker, Lee; Wai, Htoo A; Walker, Woolf T; Thomas, N Simon; Coles, Janice; Jackson, Claire L; Holloway, John W; Lucas, Jane S; Baralle, Diana

Rescue of ciliogenesis and hyperglutamylation mutant phenotype in AGBL5(-/-) cell model of retinitis pigmentosa

在视网膜色素变性 AGBL5(-/-) 细胞模型中恢复纤毛发生和高谷氨酰化突变表型

Villa-Vasquez, Suly S; Nazlamova, Liliya; Pengelly, Reuben J; Wilson, David I; Baralle, Diana; Wheway, Gabrielle

Yeti claws: Cheliped sexual dimorphism and symmetry in deep-sea yeti crabs (Kiwaidae)

雪人蟹的螯肢:深海雪人蟹(Kiwaidae)的螯肢性二态性和对称性

Roterman, Christopher Nicolai; McArthur, Molly; Laverty Baralle, Cecilia; Marsh, Leigh; Copley, Jon T

Immune transcriptomic differences in paediatric patients with SARS-CoV-2 compared to other lower respiratory tract infections

SARS-CoV-2 感染患儿与其他下呼吸道感染患儿的免疫转录组差异

Kitaba, Negusse Tadesse; Workman, Lesley; Cohen, Cheryl; Baralle, Diana; Kong, Ellen; Botha, Maresa; Johnson, Marina; Goldblatt, David; Nicol, Mark P; Holloway, John W; Zar, Heather J

MAJIQ-CLIN: A novel tool for the identification of Mendelian disease-causing variants from RNA-Seq data

MAJIQ-CLIN:一种从RNA-Seq数据中识别孟德尔遗传病致病变异的新工具

Aicher, Joseph K; Issakova, Dina; Slaff, Barry; Jewell, San; Lahens, Nicholas F; Grant, Gregory R; Baralle, Diana; Rosenfeld, Jill A; Scott, Daryl A; Bhoj, Elizabeth J; Barash, Yoseph