Hui Huang

发表

A novel missense NMNAT1 mutation identified in a consanguineous family with Leber congenital amaurosis by targeted next generation sequencing.

X. Yi, Yan-ping Wang, Jun Zhu, 2015, Gene.

A novel pathogenic large germline deletion in adenomatous polyposis coli gene in a Chinese family with familial adenomatous polyposis

S. Banerjee, Shengran Liang, Xipeng Zhang, 2016, Oncotarget.

Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure

S. Banerjee, Hui Huang, Jing Wu, 2018, Front. Genet..

Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders

Zhiyu Peng, Hongyun Zhang, Hui Huang, 2020, bioRxiv.

Whole Exome Sequencing Identifies Genes Associated With Non-Obstructive Azoospermia

Zhiyu Peng, Jing Zhao, Hui Huang, 2022, Frontiers in Genetics.

Impact of ultrasonography on identifying noninvasive prenatal screening false‐negative aneuploidy

Zhiyu Peng, Hui Huang, Jing Wu, 2020, Molecular genetics & genomic medicine.

Impact of ultrasonography on identifying noninvasive prenatal screening false‐negative aneuploidy

Zhiyu Peng, Hui Huang, Jing Wu, 2019, bioRxiv.

Candidate single-nucleotide polymorphisms and cerebral palsy: A case-control study.

Xiaomei Lu, Hui Huang, Yan-hua Chen, 2015, Biomedical reports.

Corrigendum: Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family With Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure

S. Banerjee, Hui Huang, Jing Wu, 2018, Front. Genet..

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.

46,XX Testicular Disorders of Sex Development With DMD Gene Mutation: First Case Report Identified Prenatally by Integrated Analyses in China

Huanming Yang, Dongzhu Lei, Saijun Liu, 2020, Frontiers in 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.

Therapeutic potential of C1632 by inhibition of SARS-CoV-2 replication and viral-induced inflammation through upregulating let-7

Jincun Zhao, Xiaocui Li, Haoxian Zhou, 2021, Signal Transduction and Targeted Therapy.

A Novel MLH1 Initiation Codon Mutation (c.3G>T) in a Large Chinese Lynch Syndrome Family with Different Onset Age and mRNA Expression Level

Wei Li, Zhiyu Peng, S. Banerjee, 2018, BioMed research international.

Diagnostic Whole Exome Sequencing in Patients with Short Stature

Asan, Zhiyu Peng, Shi Chen, 2018, bioRxiv.

The Genome of a Mongolian Individual Reveals the Genetic Imprints of Mongolians on Modern Human Populations

Huanming Yang, Jian Wang, Jun Wang, 2014, Genome biology and evolution.

Novel missense variant in TTN cosegregating with familial atrioventricular block.

Zhiyu Peng, Ping Yang, Hui Huang, 2020, European journal of medical genetics.

Identification of TTN as a novel candidate gene for atrioventricular block in a Chinese pedigree by whole-exome sequencing

Zhiyu Peng, Ping Yang, Hui Huang, 2018, bioRxiv.

Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa

Asan, X. Yi, Xiuqing Zhang, 2018, PloS one.

Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2

S. Banerjee, Zhiyun Yang, Yang Li, 2016, Oncotarget.

Whole Exome Sequencing Identifies Genes Associated With Non-Obstructive Azoospermia

Zhiyu Peng, Hui Huang, Hongguo Zhang, 2020, Frontiers in Genetics.

Familial pityriasis rubra pilaris in a Chinese family caused by a novel mutation in CARD14 gene

Zhiyu Peng, Xiaofang Sun, S. Banerjee, 2019, Indian journal of dermatology, venereology and leprology.

Clinical and genomic evaluation of a Chinese patient with a novel deletion associated with Phelan–McDermid syndrome

Huanming Yang, Jian Wang, Huanhuan Peng, 2016, Oncotarget.

Identification of A Novel SBF2 Frameshift Mutation in Charcot–Marie–Tooth Disease Type 4B2 Using Whole-exome Sequencing

Yanhua Chen, Hui Huang, Meiyan Chen, 2014, Genom. Proteom. Bioinform..

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.

Clinical diagnosis of single-gene disorders and chromosomal abnormalities based on BGISEQ-500 platform

Xueqin Guo, Hui Huang, Wei Li, 2019, bioRxiv.

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.

Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing

M. Qi, Yuehong Yang, Yue Yang, 2014, Journal of Zhejiang University-SCIENCE B.

Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing

M. Qi, Yuehong Yang, Hui Huang, 2014, Journal of Zhejiang University-SCIENCE B.

The YH database: the first Asian diploid genome database

Jian Wang, Guoqing Li, Chao Song, 2008, Nucleic Acids Res..

A novel gene ZNF862 causes hereditary gingival fibromatosis

Juan Wu, Weibin Sun, Hui Huang, 2020, medRxiv.

Achromatopsia caused by novel missense mutations in the CNGA3 gene.

Hui Huang, Yan-hua Chen, Lijie Dong, 2015, International journal of ophthalmology.

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 Novel Gene ZNF 862 Causes Hereditary 1 Gingival Fibromatosis

Junjie, Juan Wu, Siyuan Huang, 2022 .

A novel mutation in NF1 is associated with diverse intra-familial phenotypic variation and astrocytoma in a Chinese family

S. Banerjee, Shengran Liang, Hui Huang, 2016, Journal of Clinical Neuroscience.

Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber’s congenital amaurosis in unrelated Chinese patients

S. Banerjee, Shengran Liang, M. Qi, 2017, Oncotarget.

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.

Molecular genetic testing in clinical diagnostic assessments that demonstrate correlations in patients with autosomal recessive inherited retinal dystrophy.

Hui Jiang, Jianguo Zhang, Kanxing Zhao, 2015, JAMA ophthalmology.

A report of a pedigree with compound heterozygous mutations in the SLC22A5 gene

Hui Huang, Yu-Chi Liu, Yang Shen, 2023, Frontiers in Pediatrics.

Identification of a novel COL4A5 mutation in the proband initially diagnosed as IgAN from a Chinese family with X-linked Alport syndrome

Saijun Liu, Hui Huang, Jing Wu, 2019, Science China Life Sciences.

Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform

Xueqin Guo, Hui Huang, Wei Li, 2023, Human genome variation.

Study of the relationship between variants near CCNL1/LEKR1 and in ADCY5 with low birth weight in a Chinese population

Xiaomei Lu, Hui Huang, Yan-hua Chen, 2015, Genes & Genomics.

Sub-Exome Target Sequencing in a Family With Syndactyly Type IV Due to a Novel Partial Duplication of the LMBR1 Gene: First Case Report in Fujian Province of China

Hui Huang, Jing Wu, Lijing Shi, 2020, Frontiers in Genetics.

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.

A familial case of Syndactyly type IV due to a novel duplication of ~222.23 kb covering exons 2-17 of the LMBR1 gene: a case report

Hui Huang, Jing Wu, Lijing Shi, 2018, bioRxiv.

Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders

Zhiyu Peng, Hongyun Zhang, Hui Huang, 2021, BMC Medical Genomics.

Cutaneous freckling: Possible new clinical marker for the diagnosis of Hermansky-Pudlak syndrome in Indian Asian patients with oculocutaneous albinism

A. Rolfs, Hui Huang, R. Keep, 2017, Ophthalmic genetics.

Application of Targeted Next-Generation Sequencing in Patients with Autosomal Recessive Inherited Retinal Dystrophies: Improvement of Genetic and Clinical Diagnosis

Jianguo, Hui Jiang, Kanxing Zhao, 2014 .

Identification of a novel COL4A5 mutation in the proband initially diagnosed as IgAN from a Chinese family with X-linked Alport syndrome

Saijun Liu, Hui Huang, Jing Wu, 2019, Science China Life Sciences.