Dr. LI Jiankang (李建康)

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Research Output

  1. 2024
  2. Published

    Targeted next-generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation

    Han, D., Wang, Z., Chen, X., Liu, Z., Yang, Z., Chen, Y. & Tian, P. & 2 others, Li, J. & Wang, Z., Jul 2024, In: Molecular genetics & genomic medicine. 12, 7, 12 p.

    Research output: Journal Publications and Reviews › RGC 21 - Publication in refereed journal › peer-review

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  3. 2022
  4. Published

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

    Gao, F.-J., Wang, D.-D., Hu, F.-Y., Xu, P., Chang, Q., Li, J.-K. & Liu, W. & 3 others, Zhang, S.-H., Xu, G.-Z. & Wu, J.-H., Nov 2022, In: Eye. 36, 11, p. 2122–2129

    Research output: Journal Publications and Reviews › RGC 21 - Publication in refereed journal › peer-review

    Scopus citations: 3
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  5. 2021
  6. Published

    Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

    105 authors, including, Richard, E. M. & Li, J., 7 Oct 2021, In: American Journal of Human Genetics. 108, 10, p. 2006-2016

    Research output: Journal Publications and Reviews › RGC 21 - Publication in refereed journal › peer-review

    Scopus citations: 13
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  7. Published

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

    Gao, F.-J., Dong, J.-H., Wang, D.-D., Chen, F., Hu, F.-Y., Chang, Q. & Xu, P. & 5 others, Liu, W., Li, J.-K., Huang, Y., Wu, J.-H. & Xu, G.-Z., Jun 2021, In: Acta Ophthalmologica. 99, 4, p. e470-e479 10 p.

    Research output: Journal Publications and Reviews › RGC 21 - Publication in refereed journal › peer-review

    Scopus citations: 11
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  8. Published

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

    Li, W., Qu, N., Li, J.-K., Li, Y.-X., Han, D.-M., Chen, Y.-X. & Tian, L. & 10 others, Shao, K., Yang, W., Wang, Z.-S., Chen, X., Jin, X.-Y., Wang, Z.-W., Liang, C., Qian, W.-P., Wang, L.-S. & He, W., Mar 2021, In: Frontiers in Cell and Developmental Biology. 9, 632946.

    Research output: Journal Publications and Reviews › RGC 21 - Publication in refereed journal › peer-review

    Scopus citations: 4
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  9. Published

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

    Gao, F.-J., Wang, D.-D., Chen, F., Sun, H.-X., Hu, F.-Y., Xu, P. & Li, J. & 8 others, Liu, W., Qi, Y.-H., Li, W., Wang, M., Zhang, S., Xu, G.-Z., Chang, Q. & Wu, J.-H., Jan 2021, In: British Journal of Ophthalmology. 105, 1, p. 87-92

    Research output: Journal Publications and Reviews › RGC 21 - Publication in refereed journal › peer-review

    Scopus citations: 27
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  10. Published

    Correction: Downregulation of microRNA-9-5p promotes synaptic remodeling in the chronic phase after traumatic brain injury

    Wu, J., Li, H., He, J., Tian, X., Luo, S., Li, J. & Li, W. & 5 others, Zhong, J., Zhang, H., Huang, Z., Sun, X. & Jiang, T., 2021, In: Cell Death and Disease. 12, 233.

    Research output: Journal Publications and Reviews › Erratum

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  11. Published

    Downregulation of microRNA-9-5p promotes synaptic remodeling in the chronic phase after traumatic brain injury

    Wu, J., Li, H., He, J., Tian, X., Luo, S., Li, J. & Li, W. & 5 others, Zhong, J., Zhang, H., Huang, Z., Sun, X. & Jiang, T., 2021, In: Cell Death and Disease. 12, 9.

    Research output: Journal Publications and Reviews › RGC 21 - Publication in refereed journal › peer-review

    Scopus citations: 21
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  12. Published

    Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population

    Gao, F.-J., Wang, D.-D., Li, J.-K., Hu, F.-Y., Xu, P., Chen, F. & Qi, Y.-H. & 6 others, Liu, W., Li, W., Zhang, S.-H., Chang, Q., Xu, G.-Z. & Wu, J.-H., 2021, In: Orphanet Journal of Rare Diseases. 16, 174.

    Research output: Journal Publications and Reviews › RGC 21 - Publication in refereed journal › peer-review

    Scopus citations: 13
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  13. 2020
  14. Published

    Retrospective investigation of hereditary syndromes in patients with medulloblastoma in a single institution

    Wang, Y., Wu, J., Li, W., Li, J., Liu, R., Yang, B. & Li, C. & 1 others, Jiang, T., 15 Sept 2020, In: Child's Nervous System. 37, 2, p. 411–417

    Research output: Journal Publications and Reviews › RGC 21 - Publication in refereed journal › peer-review

    Scopus citations: 10
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  15. Published

    Novel variants associated with Stargardt disease in Chinese patients

    Hu, F., Gao, F., LI, J., Xu, P., Wang, D., Chen, F. & Zhang, S. & 1 others, Wu, J., 5 Sept 2020, In: Gene. 754, 144890.

    Research output: Journal Publications and Reviews › RGC 21 - Publication in refereed journal › peer-review

    Scopus citations: 10
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  16. Published

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

    Li, J.-K., Li, W., Gao, F.-J., Qu, S.-F., Hu, F.-Y., Zhang, S.-H. & Li, L.-L. & 6 others, Wang, Z.-W., Qiu, Y., Wang, L.-S., Huang, J., Wu, J.-H. & Chen, F., Jul 2020, In: Translational Vision Science and Technology. 9, 8, 11.

    Research output: Journal Publications and Reviews › RGC 21 - Publication in refereed journal › peer-review

    Scopus citations: 12
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  17. Published

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

    Li, J.-K., Li, L.-L., Li, W., Wang, Z.-W., Gao, F.-J., Hu, F.-Y. & Zhang, S.-H. & 5 others, Qu, S.-F., Huang, J., Wang, L.-S., Wu, J.-H. & Chen, F., Jul 2020, In: Molecular genetics & genomic medicine. 8, 7, e1218.

    Research output: Journal Publications and Reviews › RGC 21 - Publication in refereed journal › peer-review

    Scopus citations: 3
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  18. Published

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

    Gao, F.-J., Qi, Y.-H., Hu, F.-Y., Wang, D.-D., Xu, P., Guo, J.-L. & Li, J.-K. & 7 others, Zhang, Y.-J., Li, W., Chen, F., Xu, G.-Z., Liu, W., Chang, Q. & Wu, J.-H., Jun 2020, In: British Journal of Ophthalmology. 104, 6, p. 846-851

    Research output: Journal Publications and Reviews › RGC 21 - Publication in refereed journal › peer-review

    Scopus citations: 28
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  19. Published

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

    Sun, Y., Li, W., Li, J.-K., Wang, Z.-S., Bai, J.-Y., Xu, L. & Xing, B. & 5 others, Yang, W., Wang, Z.-W., Wang, L.-S., He, W. & Chen, F., Apr 2020, In: Molecular genetics & genomic medicine. 8, 4, e1184.

    Research output: Journal Publications and Reviews › RGC 21 - Publication in refereed journal › peer-review

    Scopus citations: 12
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  20. Published

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

    Sun, Y., Li, J.-K., He, W., Wang, Z.-S., Bai, J.-Y., Xu, L. & Xing, B. & 4 others, Zhang, J.-G., Wang, L., Li, W. & Chen, F., Mar 2020, In: Molecular genetics & genomic medicine. 8, 3, e1117.

    Research output: Journal Publications and Reviews › RGC 21 - Publication in refereed journal › peer-review

    Scopus citations: 4
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  21. Published

    Novel variants of ABCA4 in Han Chinese families with Stargardt disease

    Hu, F.-Y., Gao, F.-J., Li, J.-K., Xu, P., Wang, D.-D., Zhang, S.-H. & Wu, J.-H., 2020, In: BMC Medical Genetics. 21, 213.

    Research output: Journal Publications and Reviews › RGC 21 - Publication in refereed journal › peer-review

    Scopus citations: 3
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  22. 2019
  23. Published

    Genetic and clinical findings in a large cohort of Chinese patients with suspected retinitis pigmentosa

    Gao, F.-J., Li, J.-K., Chen, H., Hu, F.-Y., Zhang, S.-H., Qi, Y.-H. & Xu, P. & 10 others, Wang, D.-D., Wang, L.-S., Chang, Q., Zhang, Y.-J., Liu, W., Li, W., Wang, M., Chen, F., Xu, G.-Z. & Wu, J.-H., Nov 2019, In: Ophthalmology. 126, 11, p. 1549-1556

    Research output: Journal Publications and Reviews › RGC 21 - Publication in refereed journal › peer-review

    Scopus citations: 89
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  24. Published

    A start codon mutation of the TSPAN12 gene in Chinese families causes clinical heterogeneous familial exudative vitreoretinopathy

    Li, W., Wang, Z., Sun, Y., Wang, Z., Bai, J., Xing, B. & Sun, X. & 3 others, Wang, L., Li, J. & He, W., Oct 2019, In: Molecular genetics & genomic medicine. 7, 10, e948.

    Research output: Journal Publications and Reviews › RGC 21 - Publication in refereed journal › peer-review

    Scopus citations: 9
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  25. Published

    ABCA4 gene screening in a Chinese cohort with Stargardt disease: Identification of 37 novel variants

    Hu, F.-Y., Li, J.-K., Gao, F.-J., Qi, Y.-H., Xu, P., Zhang, Y.-J. & Wang, D.-D. & 9 others, Wang, L.-S., Li, W., Wang, M., Chen, F., Shen, S.-M., Xu, G.-Z., Zhang, S.-H., Chang, Q. & Wu, J.-H., Sept 2019, In: Frontiers in Genetics. 10, 773.

    Research output: Journal Publications and Reviews › RGC 21 - Publication in refereed journal › peer-review

    Scopus citations: 26
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