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The role of genetics in Parkinson's disease: a large cohort study in Chinese mainland population

Brain (London, England : 1878), 2020-07, Vol.143 (7), p.2220-2234

2020

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Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders

American journal of human genetics, 2019-07, Vol.105 (1), p.166-176

2019

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Racquet Sports Recognition Using a Hybrid Clustering Model Learned from Integrated Wearable Sensor

Sensors (Basel, Switzerland), 2020-03, Vol.20 (6), p.1638

2020

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Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy

Human genetics, 2021-04, Vol.140 (4), p.579-592

2021

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Clinical analysis of uterine torsion and fibroids in full-term pregnancy: A case report and review of the literature

Journal of international medical research, 2020-06, Vol.48 (6), p.300060520920404-300060520920404

2020

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Rapid diagnosis of IDH1-mutated gliomas by 2-HG detection with gas chromatography mass spectrometry

Laboratory investigation, 2019-04, Vol.99 (4), p.588-598

2019

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A metabolomic profile of biological aging in 250,341 individuals from the UK Biobank

Nature communications, 2024-09, Vol.15 (1), p.8081-19, Article 8081

2024

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Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

Brain (London, England : 1878), 2011-12, Vol.134 (12), p.3490-3498

2011

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Left circumflex artery pericardia fistula combined with huge pseudoaneurysm: a rare case report

BMC cardiovascular disorders, 2021-11, Vol.21 (1), p.567-4, Article 567

2021

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Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model

Molecular autism, 2018-12, Vol.9 (1), p.64-64, Article 64

2018

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Social impairment of children with autism spectrum disorder affects parental quality of life in different ways

Psychiatry research, 2018-08, Vol.266, p.168-174

2018

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Development and validation of a PD-L1/PD-1/CD8 axis-based classifier to predict cancer survival of upper tract urothelial carcinoma after radical nephroureterectomy

Cancer Immunology, Immunotherapy, 2021-09, Vol.70 (9), p.2657-2668

2021

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

Brain (London, England : 1878), 2010-12, Vol.133 (12), p.3510-3518

2010

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Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease

Human molecular genetics, 2006-06, Vol.15 (11), p.1816-1825

2006

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Leukocyte mitochondrial DNA copy number in blood is not associated with major depressive disorder in young adults

PloS one, 2014-05, Vol.9 (5), p.e96869-e96869

2014

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Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia

PloS one, 2013-12, Vol.8 (12), p.e81884-e81884

2013

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A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis

Gene, 2014-01, Vol.534 (2), p.320-323

2014

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Polygenic determinants of Parkinson's disease in a Chinese population

Neurobiology of aging, 2015-04, Vol.36 (4), p.1765.e1-1765.e6

2015

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Anxiety and depression in spinocerebellar ataxia patients during the COVID-19 pandemic in China: A cross-sectional study

Journal of clinical neuroscience, 2021-06, Vol.88, p.39-46

2021

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Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene

BMC medical genetics, 2018-01, Vol.19 (1), p.14-14, Article 14

2018

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Identification of a potential exosomal biomarker in spinocerebellar ataxia Type 3/Machado–Joseph disease

Epigenomics, 2019-07, Vol.11 (9), p.1037-1056

2019

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Two novel SNPs in ATXN3 3' UTR may decrease age at onset of SCA3/MJD in Chinese patients

PloS one, 2015-02, Vol.10 (2), p.e0117488-e0117488

2015

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MFN2-related genetic and clinical features in a cohort of Chinese CMT2 patients

Journal of the peripheral nervous system, 2016-03, Vol.21 (1), p.38-44

2016

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Spinocerebellar ataxia type 21 exists in the Chinese Han population

Scientific reports, 2016-01, Vol.6 (1), p.19897-19897, Article 19897

2016

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Exon dosage analysis of parkin gene in Chinese sporadic Parkinson’s disease

Neuroscience letters, 2015-09, Vol.604, p.47-51

2015

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The role of genetics in Parkinson's disease: a large cohort study in Chinese mainland population

Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders

Racquet Sports Recognition Using a Hybrid Clustering Model Learned from Integrated Wearable Sensor

Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy

Clinical analysis of uterine torsion and fibroids in full-term pregnancy: A case report and review of the literature

Rapid diagnosis of IDH1-mutated gliomas by 2-HG detection with gas chromatography mass spectrometry

A metabolomic profile of biological aging in 250,341 individuals from the UK Biobank

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

Left circumflex artery pericardia fistula combined with huge pseudoaneurysm: a rare case report

Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model

Social impairment of children with autism spectrum disorder affects parental quality of life in different ways

Development and validation of a PD-L1/PD-1/CD8 axis-based classifier to predict cancer survival of upper tract urothelial carcinoma after radical nephroureterectomy

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

Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease

Leukocyte mitochondrial DNA copy number in blood is not associated with major depressive disorder in young adults

Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia

A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis

Polygenic determinants of Parkinson's disease in a Chinese population

Anxiety and depression in spinocerebellar ataxia patients during the COVID-19 pandemic in China: A cross-sectional study

Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene

Identification of a potential exosomal biomarker in spinocerebellar ataxia Type 3/Machado–Joseph disease

Two novel SNPs in ATXN3 3' UTR may decrease age at onset of SCA3/MJD in Chinese patients

MFN2-related genetic and clinical features in a cohort of Chinese CMT2 patients

Spinocerebellar ataxia type 21 exists in the Chinese Han population

Exon dosage analysis of parkin gene in Chinese sporadic Parkinson’s disease

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