Jun Guo

发表

Whole-Exome Sequencing Uncovers Specific Genetic Variation Difference Based on Different Modes of Drug Resistance in Small Cell Lung Cancer

Xiao Han, Haiyong Wang, Zhenzhen Li, 2022, Frontiers in Oncology.

Whole Exome Sequencing for Non-selective Pediatric Patients with Hyperlipidemia.

Chanjuan Hao, C. Gong, Xuyun Hu, 2020, Gene.

Identification of a novel variant in N-cadherin associated with dilated cardiomyopathy

Chanjuan Hao, Yaodong Zhang, Wei Li, 2022, Frontiers in Medicine.

Whole‐exome sequencing reveals two de novo variants in the RBM20 gene in two Chinese patients with left ventricular non‐compaction cardiomyopathy

Chanjuan Hao, Xuyun Hu, Wei Li, 2020, Pediatric investigation.

Identification of a novel mutation of RUNX2 in a family with supernumerary teeth and craniofacial dysplasia by whole-exome sequencing

T. Cai, Dan Ma, Xuxia Wang, 2018, Medicine.

A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency

Chanjuan Hao, Bao-Ping Xu, Xuyun Hu, 2019, Molecular Cytogenetics.

Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4

Chanjuan Hao, S. Qian, Xuyun Hu, 2021, Orphanet Journal of Rare Diseases.

Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders

Zhan Qi, Chanjuan Hao, Xuyun Hu, 2020, Frontiers in Genetics.

Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report

Chanjuan Hao, Bao-Ping Xu, Xu Hu, 2019, BMC Medical Genetics.

Compound heterozygous LPIN2 pathogenic variants in a Majeed Syndrome patient with recurrent fever and severe neutropenia: case report

Jun Liu, Chanjuan Hao, Bao-Ping Xu, 2019 .

Exome sequencing as the first‐tier test for pediatric respiratory diseases: A single‐center study

Zhan Qi, Chanjuan Hao, Bao-Ping Xu, 2021, Human mutation.

Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China

Jun Liu, Zhan Qi, Chanjuan Hao, 2021, Frontiers in Genetics.

Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD

Zhongsheng Sun, T. Cai, Jie Du, 2015, Scientific Reports.

Whole-exome sequencing identifies a novel compound heterozygous mutation of ANKS6 gene in a Chinese nephronophthisis patient.

Chanjuan Hao, S. Qian, Boliang Fang, 2020, Clinica chimica acta; international journal of clinical chemistry.

A minimal length between tau exon 10 and 11 is required for correct splicing of exon 10

Jianhua Zhou, Qingming Yu, Jun Guo, 2004, Journal of neurochemistry.

Identification of Clinically Relevant Variants by Whole Exome Sequencing in Chinese Patients with Sporadic Non-syndromic Type A Aortic Dissection.

Li-Zhong Sun, Xu-dong Pan, Wei Li, 2020, Clinica chimica acta; international journal of clinical chemistry.

Identification of multiple ACVRL1 mutations in patients with pulmonary arterial hypertension by targeted exome capture.

T. Nakanishi, T. Cai, Jie Du, 2016, Clinical science.

A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy

Chanjuan Hao, S. Qian, Xuyun Hu, 2019, Molecular genetics & genomic medicine.

A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency

Chanjuan Hao, Bao-Ping Xu, Xuyun Hu, 2019, Molecular Cytogenetics.

LOXL4 Abrogation Does Not Exaggerate Angiotensin II-Induced Thoracic or Abdominal Aortic Aneurysm in Mice

W. Kong, Huimin Li, Wei Li, 2021, Genes.

TBX6 null variants and a common hypomorphic allele in congenital scoliosis.

J. Lupski, S. Cheung, Yang Zhao, 2015, The New England journal of medicine.

Compound heterozygous variants in POR gene identified by whole‐exome sequencing in a Chinese pedigree with cytochrome P450 oxidoreductase deficiency

Wei Li, Zhan Qi, Zhan Qi, 2018, Pediatric investigation.

Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review

Jun Guo, Yuanying Chen, Ruolan Guo, 2023, BMC Medical Genomics.