Jian-kang Li

发表

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

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

Panel‐based targeted exome sequencing reveals novel candidate susceptibility loci for age‐related cataracts in Chinese Cohort

Fang Chen, Jian-kang Li, Lili Li, 2020, Molecular genetics & genomic medicine.

Implementing targeted region capture sequencing for the clinical detection of Alagille syndrome: An efficient and cost‑effective method.

Jian-kang Li, Tianhong Huang, Guilin Yang, 2017, Molecular medicine reports.

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

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

Single cell atlas of domestic pig brain illuminates the conservation and divergence of cell types at spatial and species levels

Xun Xu, Fang Chen, Shida Zhu, 2019, bioRxiv.

ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants

Fang Chen, Jian-kang Li, Wei Li, 2019, Front. Genet..

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.

Integrated profiling of single cell epigenomic and transcriptomic landscape of Parkinson’s disease mouse brain

Xun Xu, Lihua Luo, Fang Chen, 2020, bioRxiv.

Novel variants associated with Stargardt disease in Chinese patients.

Jian-kang Li, Feng-Juan Gao, Fangyuan Hu, 2020, Gene.

Genotypic spectrum and phenotype correlations of EYS-associated disease in a Chinese cohort

Jian-kang Li, Feng-Juan Gao, Fangyuan Hu, 2021, Eye.

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.

Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.

H. Hakonarson, Yiran Guo, H. Pickett, 2014, Blood.

Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy

Jian-kang Li, Wei Li, Feng-Juan Gao, 2019, British Journal of Ophthalmology.

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.

Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses

Jian-kang Li, Feng-Juan Gao, Jihong Wu, 2020, BMC Ophthalmology.

Next‐generation sequencing‐aided precise diagnosis of Stickler syndrome type I

Jian-kang Li, Feng-Juan Gao, Shenghai Zhang, 2019, Acta ophthalmologica.

Single cell RNA-seq reveals cellular diversity and developmental characteristics of human infant retina

Fang Chen, Xinghuai Sun, Jixing Zhong, 2019, bioRxiv.

Expanding the clinical and genetic spectrum of Heimler syndrome

F. Song, Jian-kang Li, Feng-Juan Gao, 2019, Orphanet Journal of Rare Diseases.

Evaluation of the Genetic Variation Spectrum Related to Corneal Dystrophy in a Large Cohort

W. He, K. Shao, N. Qu, 2021, Frontiers in Cell and Developmental Biology.

A single-cell atlas of mouse olfactory bulb chromatin accessibility.

Zaoxu Xu, Gen Tang, Shengping Tang, 2021, Journal of genetics and genomics = Yi chuan xue bao.

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

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

De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases

W. He, Xin Jin, Jian-kang Li, 2023, Investigative ophthalmology & visual science.

Single-cell atlas of domestic pig cerebral cortex and hypothalamus.

Xun Xu, Lihua Luo, Shida Zhu, 2021, Science bulletin.

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.

Mutation Screening of mtDNA Combined Targeted Exon Sequencing in a Cohort With Suspected Hereditary Optic Neuropathy

Fang Chen, Jian-kang Li, Lili Li, 2020, Translational vision science & technology.

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

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

A novel mutation in PRPF31, causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencer.

Huan-ming Yang, Xiaoyan Huang, Jian-kang Li, 2018, International journal of ophthalmology.

Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome

Jianfeng Gao, Shenmin Zhang, Jian-kang Li, 2022, Frontiers in Genetics.

Comprehensive analysis of genetic and clinical characteristics of 30 patients with X‐linked juvenile retinoschisis in China

Jian-kang Li, Feng-Juan Gao, Jihong Wu, 2020, Acta ophthalmologica.

Genetic and Clinical Findings in a Large Cohort of Chinese Patients with Suspected Retinitis Pigmentosa.

W. Liu, Jian-kang Li, Wei Li, 2019, Ophthalmology.

Single-cell brain atlas of Parkinson's disease mouse model.

Xiuqing Zhang, Hongde Liu, Lihua Luo, 2021, Journal of genetics and genomics = Yi chuan xue bao.

Single-Cell RNA-Seq Reveals the Cellular Diversity and Developmental Characteristics of the Retinas of an Infant and a Young Child

Zaoxu Xu, Jihong Wu, Yuting Ma, 2022, Frontiers in Cell and Developmental Biology.

Novel variants of ABCA4 in Han Chinese families with Stargardt disease

Jian-kang Li, Feng-Juan Gao, Shenghai Zhang, 2020, BMC medical genetics.

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.

Clinical and Genetic Characteristics of Chinese Patients with Occult Macular Dystrophy

Jian-kang Li, Feng-Juan Gao, Shenghai Zhang, 2020, Investigative ophthalmology & visual science.

Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing

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

Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population

Jian-kang Li, Wei Li, Feng-Juan Gao, 2021, Orphanet Journal of Rare Diseases.

Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy

Xiaoyan Huang, Jian-kang Li, L. Tellier, 2017, Molecular vision.

Prevalence and genetic–phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease

Jian-kang Li, Wei Li, Feng-Juan Gao, 2020, British Journal of Ophthalmology.

Genetic and clinical findings of panel‐based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa

W. He, Fang Chen, Ling Xu, 2020, Molecular genetics & genomic medicine.

Exome sequencing of Saudi Arabian patients with ADPKD

Lusheng Wang, M. Lanktree, B. Keating, 2019, Renal failure.

Single cell RNA sequencing reveals cellular diversity of trisomy 21 retina

Fang Chen, Xinghuai Sun, Jixing Zhong, 2019, bioRxiv.

Genotypic spectrum and phenotype correlations of EYS-associated disease in a Chinese cohort

Jian-kang Li, Feng-Juan Gao, Shenghai Zhang, 2021, Eye.

Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations

Ling Xu, Jian-kang Li, Wei Li, 2020, Molecular genetics & genomic medicine.

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.

A novel splice donor site mutation in EPHA2 caused congenital cataract in a Chinese family

Xiuqing Zhang, Sijie He, Lejin Wang, 2016, Indian journal of ophthalmology.

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.

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.