Jianguo Zhang

发表

Analyses of pig genomes provide insight into porcine demography and evolution

Bronwen L. Aken, J. Harrow, S. Searle, 2012, Nature.

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.

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases

Brian T. Naughton, Jason R. Bobe, H. Hakonarson, 2016, Nature Biotechnology.

Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders – Future Directions

Jianguo Zhang, L. Hammarström, H. Abolhassani, 2016, Journal of Clinical Immunology.

Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls

Jianguo Zhang, Hankui Liu, Xue Gao, 2019, European Journal of Human Genetics.

An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2

H. Hakonarson, Yiran Guo, Xiuqing Zhang, 2015, BMC Medical Genetics.

Mutations in ABCB6 cause dyschromatosis universalis hereditaria.

Huanming Yang, Jianguo Zhang, Qing Wang, 2013, The Journal of investigative dermatology.

Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia

Hui Jiang, D. Yalnızoǧlu, Jianguo Zhang, 2016, Neurology: Genetics.

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.

Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction

H. Hakonarson, R. Ravazzolo, Yiran Guo, 2016, European Journal of Human Genetics.

Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.

D. Kelsell, C. Scott, Xun Xu, 2015, American journal of human genetics.

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.

Joseph T. Glessner, Ryan L. Davis, J. Glessner, 2015, Human molecular genetics.

Mutation in AQP5, encoding aquaporin 5, causes palmoplantar keratoderma Bothnia type.

Hui Jiang, Jianguo Zhang, Jinghua Yin, 2014, The Journal of investigative dermatology.

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.

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families

Sijie He, Jianguo Zhang, S. Baig, 2020, BMC Medical Genetics.

POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking.

E. Bertini, Hui Jiang, E. Arbustini, 2016, The Journal of clinical investigation.

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.

Non-Invasive Prenatal Diagnosis of Monogenic Disorders Through Bayesian- and Haplotype-Based Prediction of Fetal Genotype

Ping Liu, Jing Wu, Yu Lin, 2022, Frontiers in Genetics.

Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder.

H. Hakonarson, Yiran Guo, Jianguo Zhang, 2016, JIMD reports.

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy.

M. Zeviani, Jianguo Zhang, A. Reyes, 2015, American journal of human genetics.

Exome sequencing identified FGF12 as a novel candidate gene for Kashin-Beck disease

Hui Shen, Xiangding Chen, L. Tan, 2015, Functional & Integrative Genomics.

Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders – Future Directions

Jianguo Zhang, L. Hammarström, H. Abolhassani, 2016, Journal of Clinical Immunology.

DNAJC6 Mutations Associated With Early‐Onset Parkinson's Disease

W. Mandemakers, Jun Wang, Jianguo Zhang, 2016, Annals of neurology.

Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family

D. Taruscio, P. Perri, F. Brancati, 2019, Front. Genet..

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.

A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD).

R. Sinke, Jianguo Zhang, C. V. van Ravenswaaij-Arts, 2015, European journal of medical genetics.

New Gene Variants Associated with the Risk of Chronic HBV Infection

Jianguo Zhang, D. Zhernakova, Jing Wang, 2020, Virologica Sinica.

New Gene Variants Associated with the Risk of Chronic HBV Infection

S. O’Brien, Jianguo Zhang, D. Zhernakova, 2020, Virologica Sinica.

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.

E. Bertini, A. Vanderver, R. Carrozzo, 2016, Brain : a journal of neurology.

CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids.

J. Lane, I. Vlasac, H. Hakonarson, 2016, Brain : a journal of neurology.

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.

Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility

O. Sarig, E. Sprecher, Jianguo Zhang, 2016, Nature Genetics.

Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

Brian J. Stevenson, M. Hauschild, Huanming Yang, 2018, European journal of endocrinology.

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

Z. Tümer, T. Rosenberg, Jianguo Zhang, 2019, Scientific Reports.

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.

Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments

J. Glessner, H. Hakonarson, Yiran Guo, 2015, Human Genomics.

Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments

Joseph T. Glessner, J. Glessner, H. Hakonarson, 2015, Human Genomics.

De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes

J. Ganesh, I. Krantz, H. Hakonarson, 2015, Human mutation.

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.

De Novo Heterozygous Mutations in SMC 3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes Marı́a

J. Ganesh, I. Krantz, H. Hakonarson, 2015 .

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

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

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

M. Zeviani, Jianguo Zhang, D. Ghezzi, 2012, Molecular genetics and metabolism.

Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls

Jianguo Zhang, Hankui Liu, Xue Gao, 2019, European Journal of Human Genetics.

Rapid gene identification in a Chinese osteopetrosis family by whole exome sequencing.

Jianguo Zhang, Min Ding, W. Sui, 2013, Gene.

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.

De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome

Weiwei Guo, Ping Chen, Hui Jiang, 2014, Cell Research.

Search for the potential "second-hit" mechanism underlying the onset of familial hemophagocytic lymphohistiocytosis type 2 by whole-exome sequencing analysis.

Jianguo Zhang, Jianfeng Zhou, Lei Zhao, 2016, Translational research : the journal of laboratory and clinical medicine.

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.

Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing

Chung Wen Yu, H. Hakonarson, Yiran Guo, 2017, BMC Medical Genetics.

Mutations in topoisomerase IIβ result in a B cell immunodeficiency

H. Hakonarson, K. Frazer, Jian Wang, 2019, Nature Communications.

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.

Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families

Sijie He, Jianguo Zhang, S. Baig, 2019, Journal of Clinical Neuroscience.

Myopia disease mouse models: a missense point mutation (S673G) and a protein-truncating mutation of the Zfp644 mimic human disease phenotype

J. Dvorak, Jianguo Zhang, S. Petrezsélyová, 2019, Cell & Bioscience.

FBN3 gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome

Huanming Yang, Jianguo Zhang, N. Fan, 2017, Oncotarget.

Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis.

Jianguo Zhang, L. Duo, Xuanzhu Liu, 2015, Gene.

Attractin Participates in Schizophrenia by Affecting Testosterone Levels

Sijie He, Jianguo Zhang, Nan Li, 2021, Frontiers in Cell and Developmental Biology.

Dysfunction of Myosin Light‐Chain 4 (MYL4) Leads to Heritable Atrial Cardiomyopathy With Electrical, Contractile, and Structural Components: Evidence From Genetically‐Engineered Rats

P. Sham, Hui Jiang, S. Nattel, 2017, Journal of the American Heart Association.

Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant

M. Zeviani, Jianguo Zhang, D. Ghezzi, 2013, Orphanet Journal of Rare Diseases.

Gene pathogenicity prediction of Mendelian diseases via the random forest algorithm

Xiuqing Zhang, Sijie He, Shengting Li, 2019, bioRxiv.

Myopia disease mouse models: a missense point mutation (S673G) and a protein-truncating mutation of the Zfp644 mimic human disease phenotype

J. Dvorak, Jianguo Zhang, S. Petrezsélyová, 2019, Cell & Bioscience.

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.

Erratum to: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments

J. Glessner, H. Hakonarson, Yiran Guo, 2015, Human genomics.

Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease

Jianguo Zhang, Xiaoyan Huang, Jian-kang Li, 2017, Indian journal of ophthalmology.

Erratum to: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments

Joseph T. Glessner, H. Hakonarson, Yiran Guo, 2015, Human Genomics.

Identification of Two Homozygous Sequence Variants in the COL7A1 Gene Underlying Dystrophic Epidermolysis Bullosa by Whole‐Exome Analysis in a Consanguineous Family

J. Al-Aama, Huanming Yang, Jianguo Zhang, 2015, Annals of human genetics.

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.

Rare loss-of-function variants reveal threshold and multifactorial inheritance of dextrocardia.

Jianguo Zhang, Hongyan Wang, Rui Peng, 2023, Science bulletin.

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.