Yi Guo

发表

Human Genetic Diseases

P. Riederer, W. Le, H. Deng, 2015, BioMed research international.

Heterogeneous phenotype in a family with compound heterozygous parkin gene mutations.

J. Jankovic, W. Ondo, C. Hunter, 2006, Archives of neurology.

Progress in Genetics of Essential Tremor*: Progress in Genetics of Essential Tremor*

H. Deng, H. Liang, Yi Guo, 2011 .

Genetic analysis of LRRK2 mutations in patients with Parkinson disease

J. Jankovic, C. Hunter, Maosheng Huang, 2006, Journal of the Neurological Sciences.

Genetic and clinical identification of Parkinson's disease patients with LRRK2 G2019S mutation

J. Jankovic, C. Hunter, W. Le, 2005, Annals of neurology.

PINK1 p.K520RfsX3 mutation identified in a Chinese family with early-onset Parkinson’s disease

Chengyuan Song, H. Deng, Yiming Liu, 2018, Neuroscience Letters.

Identification of novel pathogenic ABCA4 variants in a Han Chinese family with Stargardt disease

Hongbo Xu, H. Deng, Lamei Yuan, 2018, Bioscience reports.

Serum Urate and the Risk of Parkinson's Disease: Results From a Meta-Analysis

M. Ding, W. Luo, Chun-Hong Shen, 2013, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

[Advances in the molecular genetics of brachydactyly].

H. Deng, H. Liang, Yi Guo, 2012, Yi chuan = Hereditas.

COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I

Pengfei Rong, L. Gong, Hongbo Xu, 2019, Molecular genetics & genomic medicine.

Concurrent OPA1 mutation and chromosome 3q deletion leading to Behr syndrome: a case report

Honghui Li, Ting Zeng, Yi Guo, 2020, BMC Pediatrics.

Editorial: Genetic and Epigenetic Basis of Neurodegenerative Diseases

H. Deng, Lamei Yuan, Yi Guo, 2022, Frontiers in Aging Neuroscience.

Genetic analysis of a Chinese Han family with multiple endocrine neoplasia type 2A.

K. Gao, H. Deng, Zi-qiang Luo, 2013, Indian journal of biochemistry & biophysics.

Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing

K. Gao, H. Deng, Bin Wu, 2014, Molecular Biology Reports.

Systematic Genetic Analysis of the SMPD1 Gene in Chinese Patients with Parkinson’s Disease

H. Deng, Zhi Song, S. Deng, 2016, Molecular Neurobiology.

Small interfering RNA targeting the PINK1 induces apoptosis in dopaminergic cells SH-SY5Y.

J. Jankovic, W. Le, H. Deng, 2005, Biochemical and biophysical research communications.

Artificial Neural Network Model for the Prediction of Methane Bi-Reforming Products Using CO2 and Steam

Yi Guo, Hao Deng, 2022, Processes.

Identification of a Novel Keratin 9 Missense Mutation in a Chinese Family with Epidermolytic Palmoplantar Keratoderma

Heng Xiao, Hongwei Lu, H. Deng, 2018, Cellular Physiology and Biochemistry.

Exome Sequencing of a Pedigree Reveals S339L Mutation in the TLN2 Gene as a Cause of Fifth Finger Camptodactyly

Jianguo Zhang, H. Deng, H. Deng, 2016, PloS one.

Identification of a Novel GJA3 Mutation in Congenital Nuclear Cataract

Jianguo Zhang, H. Deng, W. Xiong, 2015, Optometry and vision science : official publication of the American Academy of Optometry.

Identification of a novel EVC variant in a Han‐Chinese family with Ellis‐van Creveld syndrome

H. Deng, Yi Guo, Zhijian Yang, 2019, Molecular genetics & genomic medicine.

Identifying a BRCA2 c.5722_5723del mutation in a Han-Chinese family with breast cancer

Xiaorong Li, H. Deng, Shaihong Zhu, 2019, Bioscience reports.

Systematic genetic analysis of the PITX3 gene in patients with Parkinson disease

J. Jankovic, H. Deng, Zhi Song, 2011, Movement disorders : official journal of the Movement Disorder Society.

Genetic Analysis of FBXO2, FBXO6, FBXO12, and FBXO41 Variants in Han Chinese Patients with Sporadic Parkinson’s Disease

Hongwei Lu, H. Deng, Zhi Song, 2017, Neuroscience Bulletin.

Genetic analysis of the S100B gene in Chinese patients with Parkinson disease

H. Deng, Zhi Song, W. Xiong, 2013, Neuroscience Letters.

HLA rs3129882 variant in Chinese Han patients with late-onset sporadic Parkinson disease

H. Deng, Zi-qiang Luo, Wen Zheng, 2011, Neuroscience Letters.

Identification of a de novo TSC2 variant in a Han-Chinese family with tuberous sclerosis complex.

H. Deng, Yi Guo, Chun Liu, 2020, Journal of the Chinese Medical Association : JCMA.

Identification of a novel mutation in the ABCA4 gene in a Chinese family with retinitis pigmentosa using exome sequencing

Y. Li, H. Deng, Wen Zheng, 2018, Bioscience reports.

Identification of a GNE homozygous mutation in a Han‐Chinese family with GNE myopathy

H. Deng, Wen Zheng, Yan Yang, 2018, Journal of cellular and molecular medicine.

Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing

H. Deng, L. Guan, Zhi Song, 2016, PloS one.

An OTOF Frameshift Variant Associated with Auditory Neuropathy Spectrum Disorder

H. Deng, P. Hu, H. Xia, 2017, Current genomics.

Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2

Pengfei Rong, H. Deng, Yi Guo, 2016, Molecular pain.

Analysis of the MRPL3, DNAJC13 and OFCC1 variants in Chinese Han patients with TS-CTD

L. Su, H. Deng, Zi-qiang Luo, 2012, Neuroscience Letters.

LINGO1 rs9652490 variant in Parkinson disease patients

J. Jankovic, W. Le, H. Deng, 2011, Neuroscience Letters.

Novel ATPase Cu2+ Transporting Beta Polypeptide Mutations in Chinese Families with Wilson's Disease

H. Deng, Zhi Song, Xiaoliu Shi, 2013, PloS one.

Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss

Guangxiang He, H. Deng, P. Hu, 2015, PloS one.

Analysis of the BTBD9 and HTR2C variants in Chinese Han patients with Tourette syndrome

L. Su, Jinsong Tang, Zuocheng Yang, 2012, Psychiatric genetics.

Heterogeneous phenotype in a family with the FERM domain-containing 7 gene R335X mutation.

K. Gao, H. Deng, Wen Zheng, 2014, Canadian journal of ophthalmology. Journal canadien d'ophtalmologie.

Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes with an MT-TL1 m.3243A>G point mutation: Neuroradiological features and their implications for underlying pathogenesis

Longlun Wang, Jinhua Cai, L. Tian, 2023, Frontiers in Neuroscience.

Genetic analysis of IREB2, FAM13A and XRCC5 variants in Chinese Han patients with chronic obstructive pulmonary disease.

K. Gao, H. Deng, Zi-qiang Luo, 2011, Biochemical and biophysical research communications.

Genetic analysis of IREB 2 , FAM 13 A and XRCC 5 variants in Chinese Han patients with chronic obstructive pulmonary disease

K. Gao, H. Deng, Zi-qiang Luo, 2011 .

Novel SCN5A and GPD1L Variants Identified in Two Unrelated Han-Chinese Patients With Clinically Suspected Brugada Syndrome

H. Deng, H. Xia, Yi Guo, 2021, Frontiers in Cardiovascular Medicine.

Mutation screening of the HTR2B gene in patients with Tourette syndrome

Hao Deng, Hongbo Xu, Xiong Deng, 2012, Neuroscience Letters.

Identification of an ND4 Mutation in Leber Hereditary Optic Neuropathy.

H. Deng, Xiuhong Yuan, Yi Guo, 2017, Optometry and vision science : official publication of the American Academy of Optometry.

Genetic Analysis and Literature Review of SNCA Variants in Parkinson's Disease

H. Deng, Wen Zheng, Zhi Song, 2021, Frontiers in Aging Neuroscience.

The TSC2 c.2742+5G>A variant causes variable splicing changes and clinical manifestations in a family with tuberous sclerosis complex

L. Gong, H. Deng, Wen Zheng, 2023, Frontiers in Molecular Neuroscience.

GIGYF2 Asn56Ser and Asn457Thr mutations in Parkinson disease patients

J. Jankovic, W. Le, H. Deng, 2009, Neuroscience Letters.

Identification of a CNGB1 Frameshift Mutation in a Han Chinese Family with Retinitis Pigmentosa.

Y. Li, H. Deng, W. Xiong, 2018, Optometry and vision science : official publication of the American Academy of Optometry.

A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder.

H. Deng, W. Xiong, P. Hu, 2017, Molecular medicine reports.

Heterozygous RHO p.R135W missense mutation in a large Han-Chinese family with retinitis pigmentosa and different refractive errors

H. Deng, Yi Guo, Zhijian Yang, 2019, Bioscience reports.

Gene dosage analysis of α‐synuclein (SNCA) in patients with Parkinson's disease

J. Jankovic, W. Le, H. Deng, 2006 .

Gene dosage analysis of alpha-synuclein (SNCA) in patients with Parkinson's disease.

J. Jankovic, W. Le, H. Deng, 2006, Movement disorders : official journal of the Movement Disorder Society.

TCEANC2 rs10788972 and rs12046178 variants in the PARK10 region in Chinese Han patients with sporadic Parkinson's disease

H. Deng, Zhi Song, Yan Yang, 2015, Neurobiology of Aging.

Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing.

Quan-yong He, H. Deng, L. Guan, 2017, Molecular medicine reports.

Systematic analysis of genetic variants in Han Chinese patients with sporadic Parkinson’s disease

H. Deng, Wen Zheng, Zhi Song, 2016, Scientific Reports.

PINK1 p.K520RfsX3 mutation identified in a Chinese family with early-onset Parkinson’s disease

Chengyuan Song, H. Deng, Yiming Liu, 2018, Neuroscience Letters.

GIGYF2 Asn56Ser and Asn457Thr mutations in Parkinson disease patients

J. Jankovic, W. Le, H. Deng, 2009, Neuroscience Letters.

Systematic genetic analysis of the PITX3 gene in patients with Parkinson disease

G. Deuschl, J. Aldenhoff, K. Witt, 2011, Movement disorders : official journal of the Movement Disorder Society.

Analysis of the MRPL3, DNAJC13 and OFCC1 variants in Chinese Han patients with TS-CTD

L. Su, H. Deng, Zi-qiang Luo, 2012, Neuroscience Letters.

Systematic genetic analysis of the PITX3 gene in patients with Parkinson disease

J. Lefaucheur, S. Ayache, P. Brugières, 2011, Movement disorders : official journal of the Movement Disorder Society.