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

Guidance for the design and analysis of cell-type-specific DNA methylation epidemiology studies

细胞类型特异性DNA甲基化流行病学研究的设计和分析指南

Walker, Emma M; Dempster, Emma L; Franklin, Alice; Klokkaris, Anthony; Chioza, Barry; Davies, Jonathan P; Blake, Georgina E T; Burrage, Joe; Policicchio, Stefania; Bamford, Rosemary A; Schalkwyk, Leonard C; Mill, Jonathan; Hannon, Eilis

Developing a Novel Genomic Biomarker for the Early Detection of Neurodegeneration

开发用于早期检测神经退行性疾病的新型基因组生物标志物

Dyhrfjeld-Johnsen, Jonas; Morgan, Robert J; Soltesz, Ivan; Frith, Martyn; Chioza, Barry; Bamford, Rosemary; Hannon, Eilis; Harrower, Timothy; Mill, Jonathan; Dempster, Emma

Long-read transcript sequencing identifies differential isoform expression in the entorhinal cortex in a transgenic model of tau pathology

长读转录本测序鉴定了转基因 tau 病理模型中内嗅皮质中的差异亚型表达

Szi Kay Leung, Rosemary A Bamford, Aaron R Jeffries, Isabel Castanho, Barry Chioza, Christine S Flaxman, Karen Moore, Emma L Dempster, Joshua Harvey, Jonathan T Brown, Zeshan Ahmed, Paul O'Neill, Sarah J Richardson, Eilis Hannon, Jonathan Mill

Quantifying the proportion of different cell types in the human cortex using DNA methylation profiles

使用 DNA 甲基化谱量化人类皮层中不同细胞类型的比例

Eilis Hannon, Emma L Dempster, Jonathan P Davies, Barry Chioza, Georgina E T Blake, Joe Burrage, Stefania Policicchio, Alice Franklin, Emma M Walker, Rosemary A Bamford, Leonard C Schalkwyk, Jonathan Mill

DNA methylation signatures of Alzheimer's disease neuropathology in the cortex are primarily driven by variation in non-neuronal cell-types

阿尔茨海默病皮质神经病理学的 DNA 甲基化特征主要由非神经元细胞类型的变化驱动

Gemma Shireby, Emma L Dempster, Stefania Policicchio, Rebecca G Smith, Ehsan Pishva, Barry Chioza, Jonathan P Davies, Joe Burrage, Katie Lunnon, Dorothea Seiler Vellame, Seth Love, Alan Thomas, Keeley Brookes, Kevin Morgan, Paul Francis, Eilis Hannon, Jonathan Mill

Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice

MINAR2基因(编码膜整合型NOTCH2相关受体2)的突变会导致人类和小鼠耳聋。

Bademci, Guney; Lachgar-Ruiz, María; Deokar, Mangesh; Zafeer, Mohammad Faraz; Abad, Clemer; Yildirim Baylan, Muzeyyen; Ingham, Neil J; Chen, Jing; Sineni, Claire J; Vadgama, Nirmal; Karakikes, Ioannis; Guo, Shengru; Duman, Duygu; Singh, Nitu; Harlalka, Gaurav; Jain, Shirish P; Chioza, Barry A; Walz, Katherina; Steel, Karen P; Nasir, Jamal; Tekin, Mustafa

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

阐明 HYAL2 缺陷的临床表现和分子基础

James Fasham, Siying Lin, Promita Ghosh, Francesca Clementina Radio, Emily G Farrow, Isabelle Thiffault, Jennifer Kussman, Dihong Zhou, Rick Hemming, Kenneth Zahka, Barry A Chioza, Lettie E Rawlins, Olivia K Wenger, Adam C Gunning, Simone Pizzi, Roberta Onesimo, Giuseppe Zampino, Emily Barker, Natas

Biallelic PI4KA variants cause neurological, intestinal and immunological disease

双等位基因PI4KA变异会导致神经系统疾病、肠道疾病和免疫系统疾病。

Salter, Claire G; Cai, Yiying; Lo, Bernice; Helman, Guy; Taylor, Henry; McCartney, Amber; Leslie, Joseph S; Accogli, Andrea; Zara, Federico; Traverso, Monica; Fasham, James; Lees, Joshua A; Ferla, Matteo P; Chioza, Barry A; Wenger, Olivia; Scott, Ethan; Cross, Harold E; Crawford, Joanna; Warshawsky, Ilka; Keisling, Matthew; Agamanolis, Dimitris; Ward Melver, Catherine; Cox, Helen; Elawad, Mamoun; Marton, Tamas; Wakeling, Matthew N; Holzinger, Dirk; Tippelt, Stephan; Munteanu, Martin; Valcheva, Deyana; Deal, Christin; Van Meerbeke, Sara; Walsh Vockley, Catherine; Butte, Manish J; Acar, Utkucan; van der Knaap, Marjo S; Korenke, G Christoph; Kotzaeridou, Urania; Balla, Tamas; Simons, Cas; Uhlig, Holm H; Crosby, Andrew H; De Camilli, Pietro; Wolf, Nicole I; Baple, Emma L

A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder

SNIP1基因的双等位基因变异(阿米什创始人变异)会导致一种可识别的神经发育障碍。

Ammous, Zineb; Rawlins, Lettie E; Jones, Hannah; Leslie, Joseph S; Wenger, Olivia; Scott, Ethan; Deline, Jim; Herr, Tom; Evans, Rebecca; Scheid, Angela; Kennedy, Joanna; Chioza, Barry A; Ames, Ryan M; Cross, Harold E; Puffenberger, Erik G; Harries, Lorna; Baple, Emma L; Crosby, Andrew H

MNS1 variant associated with situs inversus and male infertility

MNS1变异与内脏反位和男性不育有关

Leslie, Joseph S; Rawlins, Lettie E; Chioza, Barry A; Olubodun, Oluwaseun R; Salter, Claire G; Fasham, James; Jones, Hannah F; Cross, Harold E; Lam, Simon; Harlalka, Gaurav V; Muggenthaler, Martina M A; Crosby, Andrew H; Baple, Emma L