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

Pathogenic variants in the Alport genes are prevalent in the Singapore multiethnic population with highest frequency in the Chinese

Alport基因的致病变异在新加坡多元种族人群中普遍存在,其中华人人群的发生率最高。

Lim, Tina Si Ting; Koh, Chee Teck; Savige, Judith; Ng, Alvin Yu-Jin; Ng, Jun Li; Chin, Hui-Lin; Lim, Weng Khong; Chan, Gek Cher; Yeo, See Cheng; Leow, Esther Hui Min; Yan, Benedict Junrong; Ng, Kar Hui; Zhang, Yaochun

P-108. Clinical Evaluation of a Sequencing-based Diagnostic for Bacterial and Fungal ID & AST Directly from Patient Blood Samples

P-108. 基于测序的细菌和真菌鉴定及药敏试验诊断方法的临床评价(直接来自患者血液样本)

Tan, David Shao-Peng; Tan, Daniel Shao-Weng; Tan, Iain Bee Huat; Yan, Benedict; Choo, Su Pin; Chng, Wee Joo; Hwang, William Ying Khee; Filbin, Michael R; Hou, Peter; Donnino, Michael; Asundi, Archana; Rogers, Zoe H; Briars, Emma; Gassett, Alison; Reidel, Alexander; Campbell, Alexis; Wittenbach, Jason; Billings, Nicole

A Pre-Leukemic DNA Methylation Signature in Healthy Individuals at Higher Risk for Developing Myeloid Malignancy

健康个体中白血病前期DNA甲基化特征与罹患髓系恶性肿瘤的高风险相关

Lao, Zhentang; Ding, Ling-Wen; Sun, Qiao-Yang; Jia, Li; Yan, Benedict; Ng, Alvin Yu-Jin; Capinpin, Sharah Mae; Wang, Renwei; Ying, Li; Chng, Wee Joo; Koeffler, H Phillip; Koh, Woon-Puay; Yuan, Jian-Min; Yang, Henry; Goh, Yeow Tee; Grigoropoulos, Nicholas

Development of a Tagmentation-Based Next-Generation Sequencing Clinical Assay as an Alternative to Capillary Electrophoresis-Based Sequencing

开发基于片段化的下一代测序临床检测方法,作为毛细管电泳测序的替代方案

Kuek, Wei Cheng David; Chai, Chean Nee; Tham, Wei Ming Jason; Ng, Alvin Yu Jin; Lau, Dilys Shi Ning; Loo, Janice Yen Qi; Van, Dan Thu; Tan, Joanna Kia Min; Lee, Chun Kiat; Yan, Benedict; Chan, Tim Hon Man

Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41

RUNX1、GATA2 和 DDX41 基因种系变异引起的遗传性造血系统恶性肿瘤的体细胞突变图谱

Homan, Claire C; Drazer, Michael W; Yu, Kai; Lawrence, David M; Feng, Jinghua; Arriola-Martinez, Luis; Pozsgai, Matthew J; McNeely, Kelsey E; Ha, Thuong; Venugopal, Parvathy; Arts, Peer; King-Smith, Sarah L; Cheah, Jesse; Armstrong, Mark; Wang, Paul; Bödör, Csaba; Cantor, Alan B; Cazzola, Mario; Degelman, Erin; DiNardo, Courtney D; Duployez, Nicolas; Favier, Remi; Fröhling, Stefan; Rio-Machin, Ana; Klco, Jeffery M; Krämer, Alwin; Kurokawa, Mineo; Lee, Joanne; Malcovati, Luca; Morgan, Neil V; Natsoulis, Georges; Owen, Carolyn; Patel, Keyur P; Preudhomme, Claude; Raslova, Hana; Rienhoff, Hugh; Ripperger, Tim; Schulte, Rachael; Tawana, Kiran; Velloso, Elvira; Yan, Benedict; Kim, Erika; Sood, Raman; Hsu, Amy P; Holland, Steven M; Phillips, Kerry; Poplawski, Nicola K; Babic, Milena; Wei, Andrew H; Forsyth, Cecily; Mar Fan, Helen; Lewis, Ian D; Cooney, Julian; Susman, Rachel; Fox, Lucy C; Blombery, Piers; Singhal, Deepak; Hiwase, Devendra; Phipson, Belinda; Schreiber, Andreas W; Hahn, Christopher N; Scott, Hamish S; Liu, Paul; Godley, Lucy A; Brown, Anna L

Sub genomic analysis of SARS-CoV-2 using short read amplicon-based sequencing

利用基于短读长扩增子的测序技术对SARS-CoV-2进行亚基因组分析

Koh, Lian Chye Winston; Seow, Yiqi; Kong, Kiat Whye; Lau, Ming Li Lalita; Kumar, Shoban Krishna; Yan, Gabriel; Lee, Chun Kiat; Yan, Benedict; Tambyah, Paul Anantharajah; Hoon, Shawn

Variant landscape of the RYR1 gene based on whole genome sequencing of the Singaporean population

基于新加坡人群全基因组测序的RYR1基因变异图谱

Foo, Claribel Tian Yu; To, Yi Hui; Irwanto, Astrid; Ng, Alvin Yu-Jin; Yan, Benedict; Chew, Sophia Tsong Huey; Liu, Jianjun; Ti, Lian Kah

Effects of acute severe acute respiratory syndrome coronavirus 2 infection on male hormone profile, ACE2 and TMPRSS2 expression, and potential for transmission of severe acute respiratory syndrome coronavirus 2 in semen of Asian men

急性严重急性呼吸综合征冠状病毒2感染对亚洲男性激素水平、ACE2和TMPRSS2表达的影响,以及严重急性呼吸综合征冠状病毒2在亚洲男性精液中的传播潜力

Huang, Zhongwei; Do, Dang Vinh; Beh, Darius; Lee, Chun Kiat; Yan, Benedict; Foo, Roger; Tambyah, Paul Anantharajah

An engineered CRISPR-Cas12a variant and DNA-RNA hybrid guides enable robust and rapid COVID-19 testing

经过基因工程改造的 CRISPR-Cas12a 变体和 DNA-RNA 混合向导可实现高效快速的 COVID-19 检测

Ooi, Kean Hean; Liu, Mengying Mandy; Tay, Jie Wen Douglas; Teo, Seok Yee; Kaewsapsak, Pornchai; Jin, Shengyang; Lee, Chun Kiat; Hou, Jingwen; Maurer-Stroh, Sebastian; Lin, Weisi; Yan, Benedict; Yan, Gabriel; Gao, Yong-Gui; Tan, Meng How

The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy

RUNX1数据库(RUNX1db):建立一个由专家整理的RUNX1注册库和基因组数据库,作为伴有髓系恶性肿瘤的家族性血小板疾病的公共资源。

Homan, Claire C; King-Smith, Sarah L; Lawrence, David M; Arts, Peer; Feng, Jinghua; Andrews, James; Armstrong, Mark; Ha, Thuong; Dobbins, Julia; Drazer, Michael W; Yu, Kai; Bödör, Csaba; Cantor, Alan; Cazzola, Mario; Degelman, Erin; DiNardo, Courtney D; Duployez, Nicolas; Favier, Remi; Fröhling, Stefan; Fitzgibbon, Jude; Klco, Jeffery M; Krämer, Alwin; Kurokawa, Mineo; Lee, Joanne; Malcovati, Luca; Morgan, Neil V; Natsoulis, Georges; Owen, Carolyn; Patel, Keyur P; Preudhomme, Claude; Raslova, Hana; Rienhoff, Hugh; Ripperger, Tim; Schulte, Rachael; Tawana, Kiran; Velloso, Elvira; Yan, Benedict; Liu, Paul; Godley, Lucy A; Schreiber, Andreas W; Hahn, Christopher N; Scott, Hamish S; Brown, Anna L