J. Du

发表

Downregulation of serum miR-17 and miR-106b levels in gastric cancer and benign gastric diseases.

Changwei Lin, Xiaorong Li, Yihang Guo, 2014, Chinese journal of cancer research = Chung-kuo yen cheng yen chiu.

PSAP variants in Parkinson's disease: a large cohort study in Chinese mainland population.

B. Tang, Guihu Zhao, Zhenghuan Fang, 2020, Brain : a journal of neurology.

Six cases of SCA3/MJD patients that mimic hereditary spastic paraplegia in clinic

K. Xia, Q. Pan, B. Tang, 2009, Journal of the Neurological Sciences.

Noninvasive prenatal testing (NIPT) in twin pregnancies with treatment of assisted reproductive techniques (ART) in a single center

Wei Wang, Xuyang Yin, Fang Chen, 2016, Prenatal diagnosis.

TDRD7 participates in lens development and spermiogenesis by mediating autophagosome maturation

Wei Li, G. Lin, Yueqiu Tan, 2021, Autophagy.

CFAP65 is required in the acrosome biogenesis and mitochondrial sheath assembly during spermiogenesis.

Chunyu Liu, Feng Zhang, L. Fan, 2021, Human molecular genetics.

A novel homozygous frameshift mutation in MNS1 associated with severe oligoasthenoteratozoospermia in humans

G. Lin, Yueqiu Tan, Weili Wang, 2020, Asian journal of andrology.

Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum

K. Xia, B. Tang, N. Li, 2008, Journal of the Neurological Sciences.

Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings

G. Lin, De-Hua Cheng, Yueqiu Tan, 2018, Molecular Cytogenetics.

Screening of SOD1, FUS and TARDBP genes in patients with amyotrophic lateral sclerosis in central-southern China

B. Tang, Li-li Hou, Xinxiang Yan, 2016, Scientific Reports.

Novel loss‐of‐function mutation in MCM8 causes premature ovarian insufficiency

G. Lin, Yueqiu Tan, G. Lu, 2020, Molecular genetics & genomic medicine.

Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD

G. Lin, De-Hua Cheng, Yueqiu Tan, 2020, Human Genetics.

A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation

J. Chen, G. Lin, Yueqiu Tan, 2019, Journal of Human Genetics.

Homozygosity mapping and next generation sequencing for the genetic diagnosis of hereditary ataxia and spastic paraplegia in consanguineous families.

Zhengmao Hu, B. Tang, Hong Jiang, 2020, Parkinsonism & related disorders.

Identification of novel SPG11 mutations in a cohort of Chinese families with hereditary spastic paraplegia

B. Tang, Hong Jiang, Lu Shen, 2018, The International journal of neuroscience.

A novel FAM83H variant causes familial amelogenesis imperfecta with incomplete penetrance

Yueqiu Tan, J. Du, Qian Peng, 2022, Molecular genetics & genomic medicine.

Dppa2 knockdown-induced differentiation and repressed proliferation of mouse embryonic stem cells.

Tianji Chen, G. Lu, J. Du, 2010, Journal of biochemistry.

Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency

G. Lin, K. Luo, Yueqiu Tan, 2018, BMC Medical Genetics.

Expansion of the phenotypic spectrum of X-linked Charcot-Marie-Tooth (CMT) disease

Zhenhua Yuan, Bin Jiao, X. Liao, 2020, Journal of Clinical Neuroscience.

Biallelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia

G. Lin, Yueqiu Tan, G. Lu, 2022, Journal of Medical Genetics.

Next‐generation sequence‐based preimplantation genetic testing for monogenic disease resulting from maternal mosaicism

G. Lin, K. Luo, Yueqiu Tan, 2021, Molecular genetics & genomic medicine.

Clinical features of NOTCH2NLC-related neuronal intranuclear inclusion disease

B. Tang, Ji-feng Guo, Q. Xiao, 2022, Journal of Neurology, Neurosurgery, and Psychiatry.

Telomerase insufficiency induced telomere erosion accumulation in successive generations in dyskeratosis congenita family

Sicong Zeng, G. Lin, G. Lu, 2019, Molecular genetics & genomic medicine.

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.

Xin Jin, K. Xia, Q. Pan, 2010, Brain : a journal of neurology.

DMC1 mutation that causes human non-obstructive azoospermia and premature ovarian insufficiency identified by whole-exome sequencing

G. Lin, Yueqiu Tan, Wen Li, 2018, Journal of Medical Genetics.

Novel MEIOB variants cause primary ovarian insufficiency and non-obstructive azoospermia

Ling Liu, G. Lin, Yueqiu Tan, 2022, Frontiers in Genetics.

In-Frame Variants in STAG3 Gene Cause Premature Ovarian Insufficiency

G. Lin, Yueqiu Tan, G. Lu, 2019, Front. Genet..

XRCC2 mutation causes premature ovarian insufficiency as well as non‐obstructive azoospermia in humans

G. Lin, Yueqiu Tan, Yongjia Yang, 2018, Clinical genetics.

DNA methylation is involved in the aberrant expression of miR-133b in colorectal cancer cells.

Changwei Lin, Xiaorong Li, Jianyu Zhou, 2015, Oncology letters.

A rare polypyrimidine tract mutation in the androgen receptor gene results in complete androgen insensitivity syndrome

G. Lin, Yueqiu Tan, G. Lu, 2017, Asian journal of andrology.

Cell growth arrest and apoptosis induced by Oct4 or Nanog knockdown in mouse embryonic stem cells: a possible role of Trp53

Tianji Chen, G. Lu, J. Du, 2011, Molecular Biology Reports.

Genotype-phenotype correlation and identification of two novel SRD5A2 mutations in 33 Chinese patients with hypospadias

P. Liang, Yueqiu Tan, Wen Li, 2017, Steroids.

Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature

G. Lin, De-Hua Cheng, Yueqiu Tan, 2018, Molecular Cytogenetics.

X‐chromosome inactivation pattern of amniocytes predicts the risk of dystrophinopathy in fetal carriers of DMD mutations

G. Lin, P. Xie, Yueqiu Tan, 2019, Prenatal diagnosis.

Novel inactivating mutations in the FSH receptor cause premature ovarian insufficiency with resistant ovary syndrome.

Juan Du, G. Lin, Yueqiu Tan, 2019, Reproductive biomedicine online.

Novel variants of the PCCB gene in Chinese patients with propionic acidemia.

Yueqiu Tan, G. Lu, Dongyan Li, 2021, Clinica chimica acta; international journal of clinical chemistry.

Combinations of exonic deletions and rare mutations lead to misdiagnosis of propionic acidemia.

G. Lin, Yueqiu Tan, F. Gong, 2019, Clinica chimica acta; international journal of clinical chemistry.

Identification of CHIP as a Novel Causative Gene for Autosomal Recessive Cerebellar Ataxia

Jun Wang, Jianguo Zhang, K. Xia, 2013, PloS one.

Identification of DNAH6 mutations in infertile men with multiple morphological abnormalities of the sperm flagella

G. Lin, Yueqiu Tan, Wen Li, 2019, Scientific Reports.

Reclassification of DMD Duplications as Benign: Recommendations for Cautious Interpretation of Variants Identified in Prenatal Screening

Ji-yang Liu, G. Lin, Yueqiu Tan, 2022, Genes.

The microRNA feedback regulation of p63 in cancer progression

Kai Gao, Juan Du, Yi Zhang, 2015, Oncotarget.

A novel multifunctional haplotyping-based preimplantation genetic testing for different genetic conditions.

R. Du, G. Lin, De-Hua Cheng, 2022, Human reproduction.

Homozygous variants in SYCP2L cause premature ovarian insufficiency

G. Lin, Yueqiu Tan, F. Gong, 2020, Journal of Medical Genetics.

Novel FOXL2 mutations cause blepharophimosis‐ptosis‐epicanthus inversus syndrome with premature ovarian insufficiency

G. Lin, Yueqiu Tan, F. Gong, 2018, Molecular genetics & genomic medicine.

Simultaneous giant mucinous cystadenoma of the appendix and intestinal schistosomiasis: ‘case report and brief review’

Changwei Lin, Xiaorong Li, Yi Zhang, 2014, World Journal of Surgical Oncology.

A homozygous RPL10L missense mutation associated with male factor infertility and severe oligozoospermia.

G. Lin, Yueqiu Tan, Shimin Yuan, 2020, Fertility and sterility.

Parental mosaicism in de novo neurodevelopmental diseases

Hua Wang, Xiao Mao, J. Du, 2021, American journal of medical genetics. Part A.

Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in China

Keya Tong, Yao He, G. Lin, 2022, Frontiers in Genetics.

Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis

Qi Yang, Fan Liang, Kai Wang, 2018, Hereditas.

Exome sequencing released a case of X-linked adrenoleukodystrophy mimicking recessive hereditary spastic paraplegia.

K. Xia, B. Tang, Xinxiang Yan, 2013, European journal of medical genetics.

A recurrent mutation in TBPL2 causes diminished ovarian reserve and female infertility.

Bai-Lin Wu, Juan Du, G. Lin, 2020, Journal of genetics and genomics = Yi chuan xue bao.

Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice.

Yunxia Cao, Xiaojin He, G. Lin, 2021, American journal of human genetics.

A diagnostic gene chip for hereditary spastic paraplegias

K. Xia, Zhengmao Hu, B. Tang, 2013, Brain Research Bulletin.

Differential Expression of Adenosine P1 Receptor ADORA1 and ADORA2A Associated with Glioma Development and Tumor-Associated Epilepsy

X. Long, Shu-yu Li, J. Du, 2016, Neurochemical Research.

ZP2 pathogenic variants cause in vitro fertilization failure and female infertility

J. Chen, Yueqiu Tan, Liang Hu, 2018, Genetics in Medicine.

Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy.

Y. Qu, Hong Wang, J. Bai, 2016, The Journal of molecular diagnostics : JMD.

Evaluation of Peripheral Immune Activation in Amyotrophic Lateral Sclerosis

K. Xia, B. Tang, Ji-feng Guo, 2020, Frontiers in Neurology.

Mutation spectrum of amyotrophic lateral sclerosis in Central South China

B. Tang, Ling Huang, Hong Jiang, 2021, Neurobiology of Aging.

Hereditary spastic paraplegia type 11: Clinicogenetic lessons from 339 patients

J. Du, 2021, Journal of Clinical Neuroscience.

Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Chinese Han patients with hereditary spastic paraplegia.

K. Xia, B. Tang, Hong Jiang, 2009, Chinese medical journal.

Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia

J. Du, Fu Xing, 2022, Neurological Sciences.

Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1

K. Xia, B. Tang, Hong Jiang, 2011, Clinical Neurology and Neurosurgery.

A novel MYORG mutation causes primary familial brain calcification with migraine: Case report and literature review

Qian Xu, Yuwen Zhao, J. Du, 2023, Frontiers in Neurology.

C9orf72 hexanucleotide repeat expansion analysis in Chinese spastic paraplegia patients

K. Xia, B. Tang, Xinxiang Yan, 2014, Journal of the Neurological Sciences.

Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction

G. Lin, Yueqiu Tan, Liang Hu, 2018, BMC Medical Genetics.

MicroRNA‑133b inhibits connective tissue growth factor in colorectal cancer and correlates with the clinical stage of the disease.

Changwei Lin, Xiaorong Li, Yi Zhang, 2015, Molecular medicine reports.

[Gene mutation analysis and prenatal diagnosis of a family with Bartter syndrome].

Na Ma, J. Du, Xiurong Li, 2016, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings

G. Lin, De-Hua Cheng, Yueqiu Tan, 2018, Molecular Cytogenetics.

RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders

Sicong Zeng, Yueqiu Tan, G. Lu, 2022, Journal of Medical Genetics.

Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations

G. Lin, Yueqiu Tan, F. Gong, 2019, Journal of Medical Genetics.

SPG46 and SPG56 are rare causes of hereditary spastic paraplegia in China

B. Tang, Juan Du, Lu Shen, 2016, Journal of Neurology.

Cell growth arrest and apoptosis induced by Oct4 or Nanog knockdown in mouse embryonic stem cells: a possible role of Trp53

Tianji Chen, G. Lu, J. Du, 2012, Molecular Biology Reports.

Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature

G. Lin, De-Hua Cheng, Yueqiu Tan, 2018, Molecular Cytogenetics.

ZP2 pathogenic variants cause in vitro fertilization failure and female infertility

J. Chen, G. Lin, Yueqiu Tan, 2018, Genetics in Medicine.

Case Report: A Novel Heterozygous ZP3 Deletion Associated With Empty Follicle Syndrome and Abnormal Follicular Development

G. Lin, F. Gong, Sufen Cai, 2021, Frontiers in Genetics.

ZP1 mutations are associated with empty follicle syndrome: evidence for the existence of an intact oocyte and a zona pellucida in follicles up to the early antral stage. A case report.

J. Chen, G. Lin, Liang Hu, 2019, Human reproduction.

Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis

Qi Yang, Fan Liang, Kai Wang, 2018, bioRxiv.

SUMO-1 Modification on K166 of PolyQ-Expanded aTaxin-3 Strengthens Its Stability and Increases Its Cytotoxicity

K. Xia, B. Tang, Juan Du, 2013, PloS one.

[Paramyotonia congenita caused by a novel mutation of SCN4A gene in a Chinese family].

Wen Li, J. Du, Qianjun Zhang, 2016, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Phenotypic and molecular characteristics of androgen insensitivity syndrome patients

Juan Du, Wen Li, Ge Lin, 2018, Asian journal of andrology.

Mutation Analysis and Prenatal Exclusion of Fibrodysplasia Ossificans Progressiva in a Chinese Fetus.

Lu-yun Li, Yueqiu Tan, G. Lu, 2010, Genetic testing and molecular biomarkers.

[Study of a family with epidermolysis bullosa simplex resulting from a novel mutation of KRT14 gene].

Yueqiu Tan, Wen Li, G. Lu, 2017, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Biallelic variants in KCTD19 associated with male factor infertility and oligoasthenoteratozoospermia.

G. Lin, Duo Yi, Weili Wang, 2023, Human reproduction.

Clinical and genetic analysis of classical Ehlers‐Danlos syndrome patient caused by synonymous mutation in COL5A2

Jing Liu, Ying Peng, Zhenhua Zhu, 2021, Molecular genetics & genomic medicine.

Altered Expression of Par3, aPKC-λ, and Lgl1 in Hippocampus in Kainic Acid-Induced Status Epilepticus Rat Model

X. Long, Chen Zhang, Zheren Tan, 2021, Frontiers in Neurology.

Novel homozygous variants in TTC12 cause male infertility with asthenoteratozoospermia owing to dynein arm complex and mitochondrial sheath defects in flagella

G. Lin, L. Fan, Y. Tan, 2023, Frontiers in Cell and Developmental Biology.

Identification of novel biallelic LRRC6 variants in male Chinese patients with primary ciliary dyskinesia and infertility

G. Lin, Y. Tan, G. Lu, 2022, Journal of Assisted Reproduction and Genetics.

Adenosine deaminase and adenosine kinase expression in human glioma and their correlation with glioma-associated epilepsy

X. Long, Shuyu Li, J. Du, 2015, Molecular medicine reports.

[Analysis of a novel mutation of AR gene in a patient featuring mild androgen insensitivity syndrome].

Yueqiu Tan, Wen Li, G. Lu, 2014, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation

J. Chen, G. Lin, Yueqiu Tan, 2019, Journal of Human Genetics.

A case of neurodegenerative disorder caused by PLA2G6 compound heterozygous pathogenic variant and SCA17 pathogenic variant

Lu Shen, J. Du, Qijie Yang, 2022, Neurological Sciences.

Loss-of-function missense variant of AKAP4 induced male infertility through reduced interaction with QRICH2 during sperm flagella development.

Zhiliang Ji, G. Lin, Yueqiu Tan, 2021, Human molecular genetics.

Bi-allelic variants in SHOC1 cause non-obstructive azoospermia with meiosis arrest in humans and mice.

G. Lin, Yueqiu Tan, Weili Wang, 2022, Molecular human reproduction.

Novel DNAAF6 variants identified by whole-exome sequencing cause male infertility and primary ciliary dyskinesia

G. Lin, Yueqiu Tan, Weili Wang, 2020, Journal of Assisted Reproduction and Genetics.

Mitochondrial genome variations are associated with amyotrophic lateral sclerosis in patients from mainland China

Mingyu Liang, B. Tang, Hong Jiang, 2021, Journal of Neurology.

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.

Xin Jin, K. Xia, Q. Pan, 2010, Brain : a journal of neurology.

MicroRNA‑133b inhibits connective tissue growth factor in colorectal cancer and correlates with the clinical stage of the disease.

Changwei Lin, Xiaorong Li, Yi Zhang, 2015, Molecular medicine reports.

GCH1 variants contribute to the risk and earlier age-at-onset of Parkinson’s disease: a two-cohort case-control study

B. Tang, Zhenghuan Fang, Ji-feng Guo, 2020, Translational Neurodegeneration.

A hemizygous loss-of-function variant in BCORL1 is associated with male infertility and oligoasthenoteratozoospermia.

Y. Tan, J. Du, C. Tu, 2024, Clinical genetics.

Whole‐exome sequencing identifies a homozygous donor splice‐site mutation in STAG3 that causes primary ovarian insufficiency

H. Huang, G. Lin, Yueqiu Tan, 2018, Clinical genetics.

Differential Expression of Adenosine P1 Receptor ADORA1 and ADORA2A Associated with Glioma Development and Tumor-Associated Epilepsy

X. Long, Shu-yu Li, J. Du, 2016, Neurochemical Research.

[Mutation analysis of SMN1 gene in patients with spinal muscular atrophy].

Y. Qu, Hong Wang, J. Bai, 2011, Zhonghua er ke za zhi = Chinese journal of pediatrics.