L. Guan

发表

Mutation analysis of Leber congenital amaurosis‑associated genes in patients with retinitis pigmentosa.

Hui Jiang, Jun Wang, Jianguo Zhang, 2015, Molecular medicine reports.

Revealing Alzheimer’s disease genes spectrum in the whole-genome by machine learning

Huanming Yang, Jianguo Zhang, L. Guan, 2018, BMC Neurology.

Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing

L. Guan, Xue Gao, Qing-yan Zhu, 2013, Journal of Translational Medicine.

CARD9 mutations linked to subcutaneous phaeohyphomycosis and TH17 cell deficiencies.

Xiaolin Wang, Yong-hao Xu, Wei Liu, 2014, The Journal of allergy and clinical immunology.

Further evidence for “gain-of-function” mechanism of DFNA5 related hearing loss

L. Lan, J. Guan, Lan Yu, 2018, Scientific Reports.

Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa

Yingrui Li, Wei Wu, J. Long, 2015, Scientific Reports.

Genome-wide association study identifies new loci associated with risk of HBV infection and disease progression

S. O’Brien, Jianguo Zhang, Tao Zhang, 2021, BMC medical genomics.

Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures

H. Deng, L. Guan, Wen Zheng, 2016, Molecular Neurobiology.

Identification of MFRP Mutations in Chinese Families with High Hyperopia

Hui Jiang, Jianguo Zhang, Ye Yin, 2015, Optometry and vision science : official publication of the American Academy of Optometry.

Mutation of IFNLR1, an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing loss

L. Guan, Xue Gao, Guo-jian Wang, 2018, Journal of Medical Genetics.

Detection and application of genome-wide variations in peach for association and genetic relationship analysis

K. Cao, Lirong Wang, Yong Li, 2019, BMC Genetics.

Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome.

Ruoyu Li, Haizhen Yang, L. Guan, 2012, American journal of human genetics.

A novel mutation of DNAH5 in chronic rhinosinusitis and primary ciliary dyskinesia in a Chinese family

Jianguo Zhang, Huabin Li, L. Guan, 2014, European Archives of Oto-Rhino-Laryngology.

ALMS1 null mutations: a common cause of Leber congenital amaurosis and early‐onset severe cone–rod dystrophy

Qi Zhang, Hui Jiang, Xinxing Guo, 2016, Clinical genetics.

Exome sequencing identifies FATP1 mutation in Melkersson–Rosenthal syndrome

R. Qi, L. Geng, L. Guan, 2017, Journal of the European Academy of Dermatology and Venereology : JEADV.

Genomic analyses of an extensive collection of wild and cultivated accessions provide new insights into peach breeding history

Z. Fei, K. Cao, Lirong Wang, 2019, Genome Biology.

Comparative Transcriptome and Microscopy Analyses Provide Insights into Flat Shape Formation in Peach (Prunus persica)

C. Deng, K. Cao, Lirong Wang, 2018, Front. Plant Sci..

Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome.

Jianguo Zhang, L. Guan, E. Y. Zhou, 2015, Human molecular genetics.

Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome.

Jianguo Zhang, L. Guan, Yali Ren, 2015, Human molecular genetics.

Identified OAS3 gene variants associated with coexistence of HBsAg and anti‐HBs in chronic HBV infection

S. O’Brien, D. Zhernakova, L. Guan, 2018, Journal of viral hepatitis.

Exome Sequencing and Linkage Analysis Identified Tenascin-C (TNC) as a Novel Causative Gene in Nonsyndromic Hearing Loss

Ling Yang, Xin Jin, L. Lan, 2013, PloS one.

Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing

Hui Jiang, Jun Wang, Jianguo Zhang, 2015, Molecular vision.

Genomic analyses provide insights into peach local adaptation and responses to climate change

Z. Fei, P. Arús, Sanwen Huang, 2020, bioRxiv.

Integrative genetic and single cell RNA sequencing analysis provides new clues to the amyotrophic lateral sclerosis neurodegeneration

K. Kristiansen, L. Bolund, Yonglun Luo, 2023, Frontiers in Neuroscience.

An integrated peach genome structural variation map uncovers genes associated with fruit traits

Z. Fei, C. Deng, K. Cao, 2020, Genome Biology.

A phenotype-specific framework for identifying the eye abnormalities causative nonsynonymous-variants

C. Ye, Huan-ming Yang, L. Guan, 2020, bioRxiv.

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.

Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy

H. Hakonarson, Yiran Guo, Sijie He, 2014, Orphanet Journal of Rare Diseases.

Exome Sequencing Identifies a Novel CEACAM16 Mutation Associated with Autosomal Dominant Nonsyndromic Hearing Loss DFNA4B in a Chinese Family

J. Yu, X. Liu, Jianguo Zhang, 2014, Journal of Human Genetics.

Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing

Hui Jiang, Jun Wang, Jianguo Zhang, 2014, Human Genetics.

Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis.

Jun Wang, Zhihong Zhu, Jianguo Zhang, 2013, Investigative ophthalmology & visual science.

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned

H. Hakonarson, Yiran Guo, Jianguo Zhang, 2015, PloS one.

Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy‐dystroglycanopathy C1

H. Deng, L. Guan, Wen Zheng, 2017, 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.

Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family

L. Guan, Xue Gao, Guo-jian Wang, 2015, PloS one.

Unique Variants in OPN1LW Cause Both Syndromic and Nonsyndromic X-Linked High Myopia Mapped to MYP1.

Hui Jiang, Jun Wang, Jianguo Zhang, 2015, Investigative ophthalmology & visual science.

Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa.

Hui Jiang, Jun Wang, Jianguo Zhang, 2014, International journal of molecular medicine.

Exome Sequencing of 47 Chinese Families with Cone-Rod Dystrophy: Mutations in 25 Known Causative Genes

Jun Wang, Zhihong Zhu, Jianguo Zhang, 2013, PloS one.

Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome.

R. Wu, L. Guan, Qingyan Zhang, 2014, Investigative ophthalmology & visual science.

Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures

H. Deng, L. Guan, Wen Zheng, 2016, Molecular Neurobiology.

Genetic Diagnosis of Two Dopa-Responsive Dystonia Families by Exome Sequencing

K. Xia, B. Tang, Zhengmao Hu, 2014, PloS one.

Recent progress of the genetics of amyotrophic lateral sclerosis and challenges of gene therapy

L. Guan, M. Deng, Hui Wang, 2023, Frontiers in Neuroscience.

A Novel DFNA36 Mutation in TMC1 Orthologous to the Beethoven (Bth) Mouse Associated with Autosomal Dominant Hearing Loss in a Chinese Family

Ling Yang, Xin Jin, L. Lan, 2014, PloS one.

Novel Compound Heterozygous TMC1 Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family

L. Guan, Xue Gao, Qing-yan Zhu, 2013, PloS one.

Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing

L. Guan, Xue Gao, Qing-yan Zhu, 2013, Journal of Translational Medicine.

Molecular genetic testing in clinical diagnostic assessments that demonstrate correlations in patients with autosomal recessive inherited retinal dystrophy.

Hui Jiang, Jianguo Zhang, Kanxing Zhao, 2015, JAMA ophthalmology.

A Novel COL4A5 Mutation Identified in a Chinese Han Family Using Exome Sequencing

Z. Zeng, Fengping Xu, L. Guan, 2014, BioMed research international.

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.

Variants in SBF1, CELSR2, and TENM1 are associated with childhood epileptic encephalopathies

Sheng, J. Chen, Yinwei Qu, 2023, medRxiv.

Development of a 775 SNP array for peach based on whole-genome resequencing data, and assessment of the potential of its application

K. Cao, Lirong Wang, G. Zhu, 2021 .

Genomic analyses of an extensive collection of wild and cultivated accessions provide new insights into peach breeding history

Z. Fei, K. Cao, Lirong Wang, 2019, Genome Biology.

Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing

Pengfei Rong, Jianguo Zhang, H. Deng, 2016, The Indian journal of medical research.

Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing

Hui Jiang, Jun Wang, Jianguo Zhang, 2014, Human Genetics.

Application of Targeted Next-Generation Sequencing in Patients with Autosomal Recessive Inherited Retinal Dystrophies: Improvement of Genetic and Clinical Diagnosis

Jianguo, Hui Jiang, Kanxing Zhao, 2014 .

ALMS1 null mutations: a common cause of Leber congenital amaurosis and early‐onset severe cone–rod dystrophy

Xinxing Guo, Xueshan Xiao, L. Guan, 2016, Clinical genetics.