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

Uptake of Polygenic Risk Testing for Glaucoma in Unaffected Individuals

未患青光眼人群中多基因风险检测的普及率

Hollitt, Georgina L; Cohen-Woods, Sarah; Siggs, Owen M; Craig, Jamie E; Souzeau, Emmanuelle

A Multitrait Polygenic Risk Score for Open-Angle Glaucoma Stratifies Risk of Pigmentary Glaucoma in Pigment Dispersion Syndrome

一项针对开角型青光眼的多性状多基因风险评分可对色素播散综合征患者的色素性青光眼风险进行分层

Kolovos, Antonia; Qassim, Ayub; Marshall, Henry N; Nguyen, Thi Thi; Schmidt, Joshua; Hassall, Mark M; Tang, Victoria; Maxwell, Giorgina; Landers, John; Mills, Richard; Lake, Stewart; Graham, Stuart L; Schulz, Angela; Galanopoulos, Anna; Casson, Robert J; Goldberg, Ivan; Coote, Michael; Best, Stephen; Lusthaus, Jed; Healey, Paul R; Burnett, Leslie; Töteberg-Harms, Marc; Boese, Erin A; Pouw, Andrew E; Gharahkhani, Puya; Scheetz, Todd; Hewitt, Alex W; MacGregor, Stuart; Siggs, Owen M; Souzeau, Emmanuelle; Fingert, John H; Craig, Jamie E

Microbes from ambient-pressure analogues offer insights into possible life in Europa's high-pressure subsurface ocean

来自常压类似环境的微生物为了解木卫二高压地下海洋中可能存在的生命提供了线索。

Del Moral, Alvaro; Siggs, Dominic; Macey, Michael C; Fox-Powell, Mark G; Pearson, Victoria K; Olsson-Francis, Karen

Development and evaluation of patient-centred polygenic risk score reports for glaucoma screening

开发和评估以患者为中心的青光眼筛查多基因风险评分报告

Hollitt, Georgina L; Hassall, Mark M; Siggs, Owen M; Craig, Jamie E; Souzeau, Emmanuelle

A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets

TNNT2 中一种罕见的剪接位点变异:基因组参考数据集需要祖先多样性

Butters, Alexandra; Thomson, Kate; Harrington, Franki; Henden, Natasha; McGuire, Karen; Byrne, Alicia B; Bryen, Samantha; McGurk, Kathryn A; Leask, Megan; Ackerman, Michael J; Atherton, John; Bos, Johan M; Caleshu, Colleen; Day, Sharlene M; Dunn, Kyla; Hayes, Ian; Juang, Jimmy; McGaughran, Julie; Nowak, Natalie; Parikh, Victoria N; Ronan, Anne; Semsarian, Christopher; Tardiff, Jil C; Tiemensma, Marianne; Merriman, Tony R; Ware, James S; Skinner, Jonathan R; MacArthur, Daniel G; Siggs, Owen M; Bagnall, Richard D; Ingles, Jodie

Polymorphic tandem repeats influence cell type-specific gene expression across the human immune landscape.

多态性串联重复序列影响人类免疫系统中细胞类型特异性基因表达。

Tanudisastro Hope A, Cuomo Anna S E, Weisburd Ben, Welland Matthew, Spenceley Eleanor, Franklin Michael, Xue Angli, Bowen Blake, Wing Kristof, Tang Owen, Gray Michael, Reis Andre L M, Margoliash Jonathan, Kurtas Nehir E, Pullin Jeffrey M, Lee Arthur S, Brand Harrison, Harper Michael, Bobowik Katalina, Silk Michael, Marshall John, Bakiris Vivian, Madala Bindu Swapna, Uren Caitlin, Bartie Caitlin, Senabouth Anne, Dashnow Harriet, Fearnley Liam, Martin-Trujillo Alejandro, Dolzhenko Egor, Qiao Zhen, Grieve Stuart M, Nguyen Tung, Ben-David Eyal, Chen Ling, Farh Kyle Kai-How, Talkowski Michael, Alexander Stephen I, Siggs Owen M, Gruenschloss Leonhard, Nicholas Hannah R, Piscionere Jennifer, Simons Cas, Wallace Chris, Gymrek Melissa, Deveson Ira W, Hewitt Alex W, Figtree Gemma A, de Lange Katrina M, Powell Joseph E, MacArthur Daniel G

Healthcare professionals' knowledge and attitudes towards polygenic risk testing for glaucoma

医疗保健专业人员对青光眼多基因风险检测的认知和态度

Hollitt, Georgina L; Keane, Miriam C; Nguyen, Thi T; Hassall, Mark M; Siggs, Owen M; Craig, Jamie E; Souzeau, Emmanuelle

Deep Learning-Based Identification of Intraocular Pressure-Associated Genes Influencing Trabecular Meshwork Cell Morphology.

基于深度学习的眼内压相关基因识别及其对小梁网细胞形态的影响

Greatbatch Connor J, Lu Qinyi, Hung Sandy, Tran Son N, Wing Kristof, Liang Helena, Han Xikun, Zhou Tiger, Siggs Owen M, Mackey David A, Liu Guei-Sheung, Cook Anthony L, Powell Joseph E, Craig Jamie E, MacGregor Stuart, Hewitt Alex W

High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma

对眼内压相关基因位点进行高通量功能分析,揭示了青光眼的独特网络

Connor J Greatbatch,Qinyi Lu,Sandy Hung,Alexander J Barnett,Kristof Wing,Helena Liang,Xikun Han,Tiger Zhou,Owen M Siggs ,David A Mackey,Anthony L Cook,Anne Senabouth,Guei-Sheung Liu,Jamie E Craig,Stuart MacGregor,Joseph E Powell ,Alex W Hewitt

The landscape of genomic structural variation in Indigenous Australians

澳大利亚原住民基因组结构变异概况

Andre L M Reis, Melissa Rapadas, Jillian M Hammond, Hasindu Gamaarachchi, Igor Stevanovski, Meutia Ayuputeri Kumaheri, Sanjog R Chintalaphani, Duminda S B Dissanayake, Owen M Siggs, Alex W Hewitt, Bastien Llamas, Alex Brown, Gareth Baynam, Graham J Mann, Brendan J McMorran, Simon Easteal, Azure Herm