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Human Mutation
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August 24, 2021
VIP-HL: Semi-automated ACMG/AMP variant interpretation platform for genetic hearing loss
Jiguang Peng, Jiale Xiang, Xiangqian Jin, et al.
BMC Medical Genomics
|
June 27, 2022
Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss
Jiale Xiang, Yuan Jin, Nana Song, et al.
Scientific Reports
|
February 18, 2021
Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach
Jing Wang, Jiale Xiang, Lisha Chen, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
July 11, 2021
[Consensus on technological standards for non-invasive prenatal screening of pathogenic copy number variations by high-throughput sequencing of maternal plasma cell-free DNA]
Weiqiang Liu, Jiexia Yang, Jun Zhang, et al.
BMC Medical Genomics
|
June 6, 2022
The effect of hemolysis on quality control metrics for noninvasive prenatal testing
Yaya Guo, Dandan Yu, Kaisu Zhou, et al.
BMC Medical Genomics
|
May 30, 2019
Increased diagnostic yield by reanalysis of data from a hearing loss gene panel
Yu Sun, Jiale Xiang, Yidong Liu, et al.
Human Mutation
|
April 14, 2025
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, et al.
Frontiers in Genetics
|
March 5, 2026
Novel LARS2 variants in patients with Perrault syndrome: expanding the genetic spectrum and phenotypic heterogeneity
Zibin Lin, Jiale Xiang, Xiangzhong Sun, et al.
Clinical Chemistry
|
May 19, 2023
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, et al.
Oncology Letters
|
August 22, 2018
Identification of a novel breast cancer-causing mutation in the <i>BRCA1</i> gene by targeted next generation sequencing: A case report
Yanyan Wang, Da Jiang, Qiang Zhao, et al.
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Search research articles
Search
Showing results (11-20 of 32) with videos related to
Sort By:
Page
of 4
Human Mutation
|
August 24, 2021
VIP-HL: Semi-automated ACMG/AMP variant interpretation platform for genetic hearing loss
Jiguang Peng, Jiale Xiang, Xiangqian Jin, et al.
BMC Medical Genomics
|
June 27, 2022
Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss
Jiale Xiang, Yuan Jin, Nana Song, et al.
Scientific Reports
|
February 18, 2021
Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach
Jing Wang, Jiale Xiang, Lisha Chen, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
July 11, 2021
[Consensus on technological standards for non-invasive prenatal screening of pathogenic copy number variations by high-throughput sequencing of maternal plasma cell-free DNA]
Weiqiang Liu, Jiexia Yang, Jun Zhang, et al.
BMC Medical Genomics
|
June 6, 2022
The effect of hemolysis on quality control metrics for noninvasive prenatal testing
Yaya Guo, Dandan Yu, Kaisu Zhou, et al.
BMC Medical Genomics
|
May 30, 2019
Increased diagnostic yield by reanalysis of data from a hearing loss gene panel
Yu Sun, Jiale Xiang, Yidong Liu, et al.
Human Mutation
|
April 14, 2025
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, et al.
Frontiers in Genetics
|
March 5, 2026
Novel LARS2 variants in patients with Perrault syndrome: expanding the genetic spectrum and phenotypic heterogeneity
Zibin Lin, Jiale Xiang, Xiangzhong Sun, et al.
Clinical Chemistry
|
May 19, 2023
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, et al.
Oncology Letters
|
August 22, 2018
Identification of a novel breast cancer-causing mutation in the <i>BRCA1</i> gene by targeted next generation sequencing: A case report
Yanyan Wang, Da Jiang, Qiang Zhao, et al.
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of 4