Jiale Xiang - BGI Genomics, BGI-Shenzhen

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论文共 27 篇作者统计合作学者相似作者

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Newborn Genomic Screening Detects Chromosomal Aneuploidies

Xiaohua Wang, Dongxia Hou,Meng Sun,Jiale Xiang,Bo Zhu,Ting Chen,Minyi Tan,Yinhong Zhang,Yifan Yin,Liyun Jia, Xiulian Liu,Cidan Huang,Jizhen Feng,Jingkun Miao,Baosheng Zhu,Yonglan Huang, Aiju Liu,Lianshu Han,Hui Zou

crossref（2024）

引用0浏览0引用

The Comprehensive Detection of Hemoglobinopathy Variants Via Long-Read Sequencing

Jiale Xiang,Jiguang Peng,Xiangzhong Sun, Chen Jiang, Huiru Zhao, Yaya Guo,Haiyan Xu, Shanshan Gu, Haodong Ye, Long You, Xiaoyan Huang, Shiping Chen,Baosheng Zhu,Zhiyu Peng

biorxiv（2024）

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Genome Sequencing Unveils the Role of Copy Number Variants in Hearing Loss and Identifies Novel Deletions with Founder Effect in the DFNB1 Locus

Zibin Lin,Jiale Xiang,Xiangzhong Sun,Nana Song,Xiaozhou Liu, Qinming Cai, Jing Yang, Haodong Ye, Jiangfan Xu, Hongfu Zhang,Jiguang Peng,Yu Sun,Zhiyu Peng

HUMAN MUTATION (2024)

引用0浏览0WOS引用

The Next Generation of Population-Based DFNB16 Carrier Screening and Diagnosis: STRC Copy-Number Variant Analysis from Genome Sequencing Data

Jiale Xiang,Jiguang Peng,Xiangzhong Sun, Zibin Lin,Dongdong Li, Haodong Ye,Sibao Wang,Yushi Bai,Xiaohong Wang,Peina Du,Ya Gao,Jun Sun,Silin Pan,Zhiyu Peng

CLINICAL CHEMISTRY（2023）

引用1浏览0WOS引用

Genomic Sequencing As a First-Tier Screening Test and Outcomes of Newborn Screening

JAMA Network Openno. 9 (2023): e2331162-e2331162

引用19浏览0WOS引用

Comprehensive Interpretation of Single-Nucleotide Substitutions in GJB2 Reveals the Genetic and Phenotypic Landscape of GJB2-related Hearing Loss

Jiale Xiang,Xiangzhong Sun,Nana Song,Sathishkumar Ramaswamy,Ahmad N. Abou Tayoun,Zhiyu Peng

HUMAN GENETICS（2023）

引用5浏览0WOS引用

Applications of Noninvasive Prenatal Testing for Subchromosomal Copy Number Variations Using Cell-Free DNA

Jiale Xiang,Zhiyu Peng

Clinics in Laboratory Medicine（2022）

引用2浏览0WOS引用

The Effect of Hemolysis on Quality Control Metrics for Noninvasive Prenatal Testing

Guo Yaya, Yu Dandan, Zhou Kaisu,Wang Jie,Lei Dongzhu,Xu Zhenpeng,Tang Weijiang,Wu Miaofeng, Fang Xingxing,Shen Jiankun,Peng Zhiyu,Xiang Jiale

BMC Medical Genomics（2022）

引用2浏览0WOS引用

Analysis of the Results of Cytomegalovirus Testing Combined with Genetic Testing in Children with Congenital Hearing Loss

Yuan Jin,Xiaozhou Liu,Sen Chen,Jiale Xiang,Zhiyu Peng,Yu Sun

Journal of Clinical Medicine（2022）

引用3浏览0WOS引用

Comprehensive Genetic Testing Improves the Clinical Diagnosis and Medical Management of Pediatric Patients with Isolated Hearing Loss

Xiang Jiale,Jin Yuan,Song Nana,Chen Sen,Shen Jiankun,Xie Wen,Sun Xiangzhong,Peng Zhiyu,Sun Yu

BMC Medical Genomics（2022）

引用9浏览0WOS引用

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