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Kwong Wai Choy

The Chinese University of Hong Kong

55H指数
351论文数
9.9K被引数
收录论文 131
发表时间
Global Recommendations for the Use of Diagnostic Genomic Sequencing in the Prenatal Setting on Behalf of the ESHG and ISPD代表欧洲人类遗传学会(ESHG)和围产期诊断国际学会(ISPD)就产前诊断基因组测序的应用提出全球建议
err2026-09-22
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errZandra C. Deans; Lina Basel Salmon; Kwong Wai Choy; Guido de Wert; Zirui Dong; Lilian Downie; Francesca Romana Grati; Sabine Hentze; Paula Jorge; Brynn Levy; Luca Lovrecic; Dora Mayen; Álvaro Mendes; Michael Morris; Ashley Pritchard; Raquel Gouveia Silva; Tina-Marié Wessels; Francesca Forzano; Natalie J. Chandler
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Global recommendations for the use of diagnostic genomic sequencing in the prenatal setting on behalf of the ESHG and ISPD代表欧洲人类遗传学会(ESHG)和国际产前诊断学会(ISPD)提出的产前诊断基因组测序应用全球建议
err2026-09-16
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errZandra C. Deans; Lina Basel Salmon; Kwong Wai Choy; Guido de Wert; Zirui Dong; Lilian Downie; Francesca Romana Grati; Sabine Hentze; Paula Jorge; Brynn Levy; Luca Lovrecic; Dora Mayen; Álvaro Mendes; Michael Morris; Ashley Pritchard; Raquel Gouveia Silva; Tina-Marié Wessels; Francesca Forzano; Natalie J. Chandler
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Genetic Investigation of X-Linked Defects with Optimized Targeted Long-Read SequencingX连锁缺陷的遗传学研究:优化靶向长读长测序的应用
err2026-08-24
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errJia Zheng; Keying Li; Jin Han; Chi Chun Chan; Huilin Wang; Jasmine Yan Tung Law; Lin Chen; Fan Jiang; Rui Zhang; Hailei Liang; Xiaofang Chen; Mengmeng Shi; Matthew Hoi Kin Chau; Ye Cao; Yvonne K Kwok; Yuanfang Zhu; Tak Yeung Leung; Kwong Wai Choy; Zirui Dong; null
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Prenatal-Onset Recessive Titinopathies: Clinical Spectrum, Genotype–Phenotype Correlations, and Outcomes宫内发病隐性肌凝蛋白病:临床谱系、基因型-表型相关性及预后
err2026-06-03
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errYu Zheng; Mengmeng Shi; Yilin Zhao; Teresa Cheuk Yan Chung; Matthew Hoi Kin Chau; Zirui Dong; Yvonne Ka Yin Kwok; Hoi Wan Angel Kwan; Josephine Shuk Ching Chong; Tak Yeung Leung; Tsz Kin Lo; Kwong Wai Choy; Yanyan Zhang; Ye Cao
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Underrecognized triploidy and genome-wide uniparental disomy in human blastocysts revealed by a concurrent preimplantation genetic testing approach通过并行植入前遗传检测方法揭示的人囊胚中未被充分认识的嵌合三倍体和全基因组单亲二倍体
err2026-05-19
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errYing Li; Matthew Hoi Kin Chau; Ying Xin Zhang; Bao Heng Gui; Wai Ting Lui; Ching Man Vivian Lam; Ye Cao; Teresa Cheuk Yan Chung; Chong Cong Wu; Patricia Nga Ping Ip; David Yiu Leung Chan; Yvonne Ka Yin Kwok; Jacqueline Pui Wah Chung; Kwong Wai Choy; null
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NONO-Related Syndromic X-Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal CohortNONO相关综合征性X连锁发育障碍34:在产前队列中的进一步临床和分子界定
err2026-02-01
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errZhao, Yilin; Zou, Gang; Shi, Mengmeng; Law, Kwok Ming; Lau, So Ling; Meng, Meng; Ting, Yuen Ha; Poon, Chiu Yee Liona; Dong, Zirui; Chau, Matthew Hoi Kin; Leung, Tak Yeung; Choy, Kwong Wai; Zhang, Xinwen; Cao, Ye
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Clinical validation of artificial intelligence-assisted karyotyping on peripheral blood in a cytogenetic diagnostic laboratory人工智能辅助核型分析在周围血细胞遗传学诊断实验室的临床验证
err2025-11-10
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errYujie Zhu; Matthew Hoi Kin Chau; Huilin Wang; Ning Song; Ran Wei; Kin Wah Suen; Anna Chi Sum Chan; Wan Ching Hung; Ye Cao; Zirui Dong; Tak Yeung Leung; Sau Wai Cheung; Kwong Wai Choy
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Explainable Deep Learning System for Automatic Detection of Thyroid Eye Disease Using Facial Images基于面部图像的甲状腺眼病自动检测可解释深度学习系统
err2025-05-27
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errXiaodan Sui; Kenneth Ka Hei Lai; Richard Wai Chak Choy; Han Wang; Karen Kar Wun Chan; Fatema Mohamed Ali Abdulla Aljufairi; Yuanjie Zheng; Wilson Wai Kuen Yip; Alvin Lerrmann Young; Clement Chee Yung Tham; Chi Pui Pang; Hongsheng Li; Kelvin Kam Lung Chong
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AI-assisted facial analysis in healthcare From disease detection to comprehensive managementAI辅助面部分析在医疗保健中的应用:从疾病检测到综合管理
err2025-02-01
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errLei, Chaoyu; Dang, Kang; Song, Sifan; Wang, Zilong; Chew, Sien Ping; Bian, Ruitong; Yang, Xichen; Guan, Zhouyu; Lopes, Claudia Isabel Marques de Abreu; Wang, Mini Hang; Choy, Richard Wai Chak; Hu, Xiaoyan; Lai, Kenneth Ka Hei; Chong, Kelvin Kam Lung; Pang, Chi Pui; Song, Xuefei; Su, Jionglong; Ding, Xiaowei; Zhou, Huifang
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Mate-Pair Sequencing Enables Identification and Delineation of Balanced and Unbalanced Structural Variants in Prenatal Cytogenomic Diagnostics
err2025-01-03
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PREAI
errQian, Jicheng; Wang, Huilin; Liang, Hailei; Zheng, Yuting; Yu, Mingyang; Tse, Wing Ting; Kwan, Angel Hoi Wan; Wong, Lo; Wong, Natalie Kwun Long; Wah, Isabella Yi Man; Lau, So Ling; Hui, Shuk Yi Annie; Chau, Matthew Hoi Kin; Chen, Xiaoyan; Zhang, Rui; Poon, Liona C.; Leung, Tak Yeung; Liu, Pengfei; Choy, Kwong Wai; Dong, Zirui
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Genome sequencing in the prenatal diagnosis of structural malformations in the fetus
err2024-12-01
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PREAI
errChau, Matthew Hoi Kin; Choolani, Mahesh; Dong, Zirui; Cao, Ye; Choy, Kwong Wai
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Detection of genomic variants by genome sequencing in foetuses with central nervous system abnormalities
err2024-09-06
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errWang, Yanfei; Liu, Meimei; Gao, Zhi; Hua, Chunxiao; Jiang, Jinna; Zheng, Yuting; Dong, Zirui; Cao, Ye; Choy, Kwong Wai; Zhu, Xiaofan; Kong, Xiangdong
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Cell-free DNA test for fetal chromosomal abnormalities in multiple pregnancies
err2024-06-25
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errKwan, Angel H. W.; Gil, Maria Mar; Xue, Shuwen; Kwok, Yvonne K. Y.; Lau, Doris; Fung, Joanna; Chan, Andrea; Choy, Kwong Wai; Leung, Tak Yeung; Poon, Liona C.
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Amniotic fluid gamma-glutamyl transferase for prediction of biliary atresia in cases of non-visualisation of the fetal gallbladder: a retrospective study using a validated analytical platform and local reference range
err2024-06-05
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errCheung, Tommy Y. T.; Wong, Natalie K. L.; Sahota, Daljit Singh; Subramaniam, Shreenidhi Ranganatha; Lau, S. L.; Zhu, X.; Lui, W. T.; Chan, Edwin K. W.; Kwok, Yvonne K. Y.; Choy, K. W.; Leung, T. Y.; Chan, Michael H. M.; Wong, Felix C. K.; Ting, Y. H.
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A genome-wide association study of Chinese and English language phenotypes in Hong Kong Chinese children
err2024-03-27
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errLin, Yu-Ping; Shi, Yujia; Zhang, Ruoyu; Xue, Xiao; Rao, Shitao; Yin, Liangying; Lui, Kelvin Fai Hong; Pan, Dora Jue; Maurer, Urs; Choy, Kwong-Wai; Paracchini, Silvia; Mcbride, Catherine; So, Hon-Cheong
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