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

Expanding carrier screening: beyond the genes, to include underrepresented ancestries

扩大携带者筛查范围:超越基因层面,纳入代表性不足的族裔群体

Bylstra, Yasmin; Jian, Pua Chee; Lin, Sui; Goh, Jeannette; Choi, Christina; Teo, Jing Xian; Lim, Sandy; Hodgson, Jan; Menezes, Melody; Weng, Ruifen; Amor, David J; Lim, Weng Khong; Jamuar, Saumya S

Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort

影响多民族亚洲遗传性视网膜疾病队列诊断率的因素

Lieviant, Jane Andrea; Chan, Choi Mun; Bylstra, Yasmin; Jain, Kanika; Teo, Jing Xian; Lim, Wan Wan; Kam, Sylvia; Chao, Tang Wei; Chai Bin Siew, Nellie; Davila, Sonia; Vithana, Eranga Nishanthie; Mathur, Ranjana Sanjay; Tan, Tien-En; Tan, Patrick; Jamuar, Saumya S; Fenner, Beau James; Lim, Weng Khong

Fundus autofluorescence features specific for EYS-associated retinitis pigmentosa

EYS相关性视网膜色素变性的眼底自发荧光特征

Kominami, Taro; Tan, Tien-En; Ushida, Hiroaki; Jain, Kanika; Goto, Kensuke; Bylstra, Yasmin M; Sajiki, Ai Fujita; Mathur, Ranjana S; Ota, Junya; Lim, Weng Khong; Nishiguchi, Koji M; Fenner, Beau J

Phenotypic Distinctions Between EYS- and USH2A-Associated Retinitis Pigmentosa in an Asian Population

亚洲人群中EYS相关和USH2A相关视网膜色素变性的表型差异

Yeo, Ellis Y H; Kominami, Taro; Tan, Tien-En; Babu, Lathiksha; Ong, Kevin G S; Tan, Weilun; Bylstra, Yasmin M; Jain, Kanika; Tang, Rachael W C; Farooqui, Saadia Z; Kam, Sylvia P R; Chan, Choi-Mun; Mathur, Ranjana S; Jamuar, Saumya S; Lim, Weng Khong; Nishiguchi, Koji; Fenner, Beau J

Cluster analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases

利用聚类分析和可视化电子健康记录数据,识别未确诊的罕见遗传疾病患者

Moynihan, Daniel; Monaco, Sean; Ting, Teck Wah; Narasimhalu, Kaavya; Hsieh, Jenny; Kam, Sylvia; Lim, Jiin Ying; Lim, Weng Khong; Davila, Sonia; Bylstra, Yasmin; Balakrishnan, Iswaree Devi; Heng, Mark; Chia, Elian; Yeo, Khung Keong; Goh, Bee Keow; Gupta, Ritu; Tan, Tele; Baynam, Gareth; Jamuar, Saumya Shekhar

Author Correction: Analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases

作者更正:分析和可视化电子健康记录数据以识别未确诊的罕见遗传疾病患者

Moynihan, Daniel; Monaco, Sean; Ting, Teck Wah; Narasimhalu, Kaavya; Hsieh, Jenny; Kam, Sylvia; Lim, Jiin Ying; Lim, Weng Khong; Davila, Sonia; Bylstra, Yasmin; Balakrishnan, Iswaree Devi; Heng, Mark; Chia, Elian; Yeo, Khung Keong; Goh, Bee Keow; Gupta, Ritu; Tan, Tele; Baynam, Gareth; Jamuar, Saumya Shekhar

Utility of multimodal imaging in the clinical diagnosis of inherited retinal degenerations

多模态成像在遗传性视网膜变性临床诊断中的应用

Lee, Brian J H; Sun, Christopher Z Y; Ong, Charles J T; Jain, Kanika; Tan, Tien-En; Chan, Choi Mun; Mathur, Ranjana S; Tang, Rachael W C; Bylstra, Yasmin; Kam, Sylvia P R; Lim, Weng Khong; Fenner, Beau J

Advancing precision medicine through the integration of clinical cardiovascular genetics - An Asian perspective

通过整合临床心血管遗传学推进精准医疗——亚洲视角

Balakrishnan, Iswaree D; Bylstra, Yasmin; Fong, Nikki; Chai, Nellie B S; Kam, Sylvia; Khoo, Chun Yuan; Chan, Laura L H; Koh, Angela S; Tang, Hak Chiaw; Lim, Eric; Tan, Ju Le; Lim, Weng Khong; Pua, Chee Jian; Sim, David; Cook, Stuart A; Tan, Ee Shien; Yeo, Khung Keong; Jamuar, Saumya S

Coinheritance of Hypertrophic and Arrhythmogenic Cardiomyopathy Variants in a Patient With Hypertrophic Cardiomyopathy

肥厚型心肌病患者同时遗传肥厚型和致心律失常型心肌病变异

Lee, Yi Siang; Pua, Chee Jian; Bylstra, Yasmin; Shekhar Jamuar, Saumya; Devi Balakrishnan, Iswaree

Analysis of clinically relevant variants from ancestrally diverse Asian genomes

对来自具有不同祖先特征的亚洲基因组的临床相关变异进行分析

Chan, Sock Hoai; Bylstra, Yasmin; Teo, Jing Xian; Kuan, Jyn Ling; Bertin, Nicolas; Gonzalez-Porta, Mar; Hebrard, Maxime; Tirado-Magallanes, Roberto; Tan, Joanna Hui Juan; Jeyakani, Justin; Li, Zhihui; Chai, Jin Fang; Chong, Yap Seng; Davila, Sonia; Goh, Liuh Ling; Lee, Eng Sing; Wong, Eleanor; Wong, Tien Yin; Prabhakar, Shyam; Liu, Jianjun; Cheng, Ching-Yu; Eisenhaber, Birgit; Karnani, Neerja; Leong, Khai Pang; Sim, Xueling; Yeo, Khung Keong; Chambers, John C; Tai, E-Shyong; Tan, Patrick; Jamuar, Saumya S; Ngeow, Joanne; Lim, Weng Khong