Qiang Zhang

发表

Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement

Yiping Shen, Z. Qin, Jiasun Su, 2021, Molecular genetics & genomic medicine.

A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report

Mengting Li, Qiang Zhang, Fei Chen, 2021, Experimental and therapeutic medicine.

A Nested Asymmetric PCR Melting Curve Assay for One-Step Genotyping of Nondeletional α-Thalassemia Mutations.

Wanjun Zhou, Haiping Liu, Qiang Zhang, 2020, The Journal of molecular diagnostics : JMD.

Clinical application of whole-exome sequencing: A retrospective, single-center study

Z. Qin, Jiasun Su, Qiang Zhang, 2021, Experimental and therapeutic medicine.

Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature

Z. Qin, Jiasun Su, Qiang Zhang, 2020, BMC Medical Genomics.

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome

Yiping Shen, Z. Qin, Jiasun Su, 2020, Frontiers in Genetics.

α+-Thalassemia Caused by an 811 bp Deletion in Individuals from Nanning, Guangxi: A Report of Two Cases

Wanjun Zhou, Qiang Zhang, X. Fan, 2017, Hemoglobin.

Hb H Disease Caused by Multiple Mutations in the Polyadenylation Signal Site and − −SEA/αα

Wanjun Zhou, Qiang Zhang, X. Fan, 2017, Hemoglobin.

Hb H Hydrops Fetalis Syndrome Caused by Association of the − −SEA Deletion and Hb Constant Spring (HBA2: c.427T > C) Mutation in a Chinese Family

Xiao-Xian Tian, Shaoke Chen, Qiang Zhang, 2015, Hemoglobin.

Deletion and Hb Constant Spring (HBA2: c.427T4C) Mutation in a Chinese Family

Xiao-Xian Tian, Shaoke Chen, Qiang Zhang, 2015 .

Prevention and control of Hb Bart's disease in Guangxi Zhuang Autonomous Region, China.

Shaoke Chen, Qiang Zhang, Sheng He, 2014, European journal of obstetrics, gynecology, and reproductive biology.

Prenatal diagnosis of β-thalassemia in Guangxi Zhuang Autonomous Region, China

Qiang Zhang, Sheng He, Chenguang Zheng, 2013, Archives of Gynecology and Obstetrics.

A novel variant of IHH in a Chinese family with brachydactyly type 1

Yiping Shen, J. Lan, Xiao-Xian Tian, 2019, BMC Medical Genetics.

A novel pathogenic variant of IHH for Brachydactyly type A1

Yiping Shen, J. Lan, Mengting Li, 2019 .

Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole‐exome sequencing in three fetuses with congenital hydrocephalus

Qiang Zhang, Dahua Meng, Dongmei Fei, 2022, The journal of obstetrics and gynaecology research.

Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies

Asan, Huanming Yang, Jian Wang, 2017, EBioMedicine.

Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature

Z. Qin, Jiasun Su, Weiliang Lu, 2019, Molecular Cytogenetics.

Core clinical symptoms and heterogeneous manifestations of NS / LAH: three case reports and review of the literature

Shaoke Chen, Z. Qin, Qiang Zhang, 2020 .

Case Report: Variations in the ALPL Gene in Chinese Patients With Hypophosphatasia

Z. Qin, Qiang Zhang, Shang Yi, 2021, Frontiers in Genetics.

First Detection of a Splice Acceptor Site β-Thalassemia Mutation: IVS-I-130 (HBB: c.93-1G > C) in a Chinese Patient

Shaoke Chen, Qiang Zhang, Sheng He, 2015, Hemoglobin.

Genome analysis and knowledge-driven variant interpretation with TGex

Yiping Shen, Marilyn Safran, Ruth Barshir, 2019, BMC Medical Genomics.

Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature.

J. Lupski, Zhihong Wu, Shuyang Zhang, 2021, Journal of genetics and genomics = Yi chuan xue bao.

Three additional de novo CTCF mutations in Chinese patients help to define an emerging neurodevelopmental disorder

Yiping Shen, Xin Fan, Wenyong Wu, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

The first reported case of Beaulieu-Boycott-Innes syndrome caused by two novel mutations in THOC6 gene in a Chinese infant

Shaoke Chen, Z. Qin, Qiang Zhang, 2020, Medicine.

Genome analysis and knowledge-driven variant interpretation with TGex

D. Lancet, Yiping Shen, Michal Twik, 2019, BMC Medical Genomics.

Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature

Z. Qin, Qiang Zhang, Shang Yi, 2020, BMC medical genomics.

Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review

Z. Qin, Qinle Zhang, Qiang Zhang, 2023, BMC Medical Genomics.

PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus

Mengting Li, Qiang Zhang, Shang Yi, 2020, Frontiers in Genetics.

A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8

Yiping Shen, Z. Qin, Qinle Zhang, 2021, Molecular genetics & genomic medicine.

First Detection of a Splice Site β-Thalassemia Mutation, IVS-I-6 (T > C) (HBB: c.92 + 6T > C) in a Chinese Family

Qiang Zhang, Shang Yi, Sheng He, 2015, Hemoglobin.