Jiale Xiang

发表

AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants

Zhiyu Peng, Jiale Xiang, Jiguang Peng, 2019, bioRxiv.

The effect of hemolysis on quality control metrics for noninvasive prenatal testing

Zhiyu Peng, Dongzhu Lei, W. Tang, 2022, BMC medical genomics.

Identification of a novel breast cancer-causing mutation in the BRCA1 gene by targeted next generation sequencing: A case report.

Zhiyu Peng, S. Banerjee, Hui Huang, 2018, Oncology letters.

Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss

Zhiyu Peng, A. A. Abou Tayoun, S. Ramaswamy, 2022, Human Genetics.

Novel loss-of-function mutation in BRCA2 gene identified in a Chinese female with a family history of ovarian cancer: A case report

Zhiyu Peng, S. Banerjee, Fengling Liu, 2019, Oncology letters.

Increased diagnostic yield by reanalysis of data from a hearing loss gene panel

Zhiyu Peng, Yaping Yang, Yulin Zhou, 2019, BMC Medical Genomics.

Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss

Zhiyu Peng, Jiale Xiang, Yuan Jin, 2022, BMC medical genomics.

Concurrent hearing and genetic screening in a general newborn population

Huanming Yang, Jian Wang, Zhiyu Peng, 2020, Human Genetics.

Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China

Huanming Yang, Jian Wang, Zhiyu Peng, 2018, bioRxiv.

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

Zhiyu Peng, Jiale Xiang, 2021, Clinics in laboratory medicine.

Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades

Zhiyu Peng, Jiyun Yang, Qing Zhou, 2020, Scientific Reports.

Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis

Renhua Wu, Zhiyu Peng, Hui Huang, 2019, BMC Medical Genomics.

Pre-implantation genetic diagnosis for a family with Usher syndrome through targeted sequencing and haplotype analysis

R. Wu, Zhiyu Peng, Hui Huang, 2018 .

Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples

Asan, Huanming Yang, Jian Wang, 2018, European Journal of Human Genetics.

Increased diagnostic yield by reanalysis of data from a hearing loss gene panel

Zhiyu Peng, Yaping Yang, Yulin Zhou, 2019, BMC Medical Genomics.

VIP-HL: Semi-automated ACMG/AMP variant interpretation platform for genetic hearing loss

Zhiyu Peng, Jiguang Peng, Jiale Xiang, 2020, bioRxiv.

Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach

Zhiyu Peng, Hongyu Luo, Jiale Xiang, 2020, medRxiv.

Utility of Whole Genome Sequencing for Population Screening of Deafness-Related Genetic Variants and Cytomegalovirus Infection in Newborns

Zhiyu Peng, Jiale Xiang, Jun Sun, 2022, Frontiers in Genetics.

A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns

Zhiyu Peng, Jiale Xiang, Guiwei Zhang, 2021, BMC Medical Genomics.

Concurrent hearing and genetic screening in a general newborn population

Huanming Yang, Jian Wang, Zhiyu Peng, 2020, Human Genetics.

Clinical impacts of genome-wide noninvasive prenatal testing for rare autosomal trisomy.

Zhiyu Peng, C. Liao, Dongzhi Li, 2022, American journal of obstetrics & gynecology MFM.

Comprehensive simulation and interpretation of single nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss

Zhiyu Peng, A. A. Tayoun, S. Ramaswamy, 2021, bioRxiv.

Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples

Asan, Huanming Yang, Jian Wang, 2018, European Journal of Human Genetics.

A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns

Zhiyu Peng, Hongyu Luo, Jiale Xiang, 2021, BMC medical genomics.

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

Zhiyu Peng, S. Pan, Ya Gao, 2023, Clinical chemistry.

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

Zhiyu Peng, Jiale Xiang, Xiao-zhou Liu, 2022, Journal of clinical medicine.

Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis

Zhiyu Peng, Hui Huang, Wei Li, 2019, BMC Medical Genomics.

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

Zhiyu Peng, Xuefan Gu, Jing-kun Miao, 2023, JAMA network open.

AutoCNV: a semiautomatic CNV interpretation system based on the 2019 ACMG/ClinGen Technical Standards for CNVs

Zhiyu Peng, Manqiu Yang, Hui Huang, 2021, BMC Genomics.

Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades

Zhiyu Peng, Jiyun Yang, Qing Zhou, 2020, Scientific Reports.

AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants

Zhiyu Peng, Jiale Xiang, Jiguang Peng, 2020, Human mutation.

Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China

Huanming Yang, Jian Wang, Zhiyu Peng, 2018, Genetics in Medicine.

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

Zhiyu Peng, Jiale Xiang, Jiguang Peng, 2024, Human Mutation.