Mr. LI Jiankang (李建康)

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Research Output

  1. 2022
  2. Published

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

    Gao, F., Wang, D., Hu, F., Xu, P., Chang, Q., Li, J., Liu, W., & 3 othersZhang, S., Xu, G. & Wu, J., Nov 2022, In: Eye. 36, 11, p. 2122–2129

    Research output: Journal Publications and Reviews (RGC: 21, 22, 62) › 21_Publication in refereed journal › peer-review

    Scopus citations: 2
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  3. 2021
  4. Published

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

    105 authors, including, 1. A. I., 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, 22, 62) › 21_Publication in refereed journal › peer-review

    Scopus citations: 5
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  5. Published

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

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

    Research output: Journal Publications and Reviews (RGC: 21, 22, 62) › 21_Publication in refereed journal › peer-review

    Scopus citations: 5
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  6. Published

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

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

    Research output: Journal Publications and Reviews (RGC: 21, 22, 62) › 21_Publication in refereed journal › peer-review

    Scopus citations: 3
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  7. Published

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

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

    Research output: Journal Publications and Reviews (RGC: 21, 22, 62) › 21_Publication in refereed journal › peer-review

    Scopus citations: 19
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  8. 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 othersZhong, J., Zhang, H., Huang, Z., Sun, X. & Jiang, T., 2021, In: Cell Death and Disease. 12, 233.

    Research output: Journal Publications and Reviews (RGC: 21, 22, 62) › Erratum

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  9. 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 othersZhong, 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, 22, 62) › 21_Publication in refereed journal › peer-review

    Scopus citations: 11
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  10. Published

    Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population

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

    Research output: Journal Publications and Reviews (RGC: 21, 22, 62) › 21_Publication in refereed journal › peer-review

    Scopus citations: 8
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  11. 2020
  12. 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 othersJiang, T., 15 Sept 2020, In: Child's Nervous System. 37, 2, p. 411–417

    Research output: Journal Publications and Reviews (RGC: 21, 22, 62) › 21_Publication in refereed journal › peer-review

    Scopus citations: 8
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  13. 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 othersWu, J., 5 Sept 2020, In: Gene. 754, 144890.

    Research output: Journal Publications and Reviews (RGC: 21, 22, 62) › 21_Publication in refereed journal › peer-review

    Scopus citations: 8
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  14. Published

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

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

    Research output: Journal Publications and Reviews (RGC: 21, 22, 62) › 21_Publication in refereed journal › peer-review

    Scopus citations: 9
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  15. Published

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

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

    Research output: Journal Publications and Reviews (RGC: 21, 22, 62) › 21_Publication in refereed journal › peer-review

    Scopus citations: 1
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  16. Published

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

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

    Research output: Journal Publications and Reviews (RGC: 21, 22, 62) › 21_Publication in refereed journal › peer-review

    Scopus citations: 22
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  17. 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., Wang, Z., Bai, J., Xu, L., Xing, B., & 5 othersYang, W., Wang, Z., Wang, L., He, W. & Chen, F., Apr 2020, In: Molecular genetics & genomic medicine. 8, 4, e1184.

    Research output: Journal Publications and Reviews (RGC: 21, 22, 62) › 21_Publication in refereed journal › peer-review

    Scopus citations: 8
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  18. Published

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

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

    Research output: Journal Publications and Reviews (RGC: 21, 22, 62) › 21_Publication in refereed journal › peer-review

    Scopus citations: 4
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  19. Published

    Novel variants of ABCA4 in Han Chinese families with Stargardt disease

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

    Research output: Journal Publications and Reviews (RGC: 21, 22, 62) › 21_Publication in refereed journal › peer-review

    Scopus citations: 1
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  20. 2019
  21. Published

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

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

    Research output: Journal Publications and Reviews (RGC: 21, 22, 62) › 21_Publication in refereed journal › peer-review

    Scopus citations: 66
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  22. 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 othersWang, L., Li, J. & He, W., Oct 2019, In: Molecular genetics & genomic medicine. 7, 10, e948.

    Research output: Journal Publications and Reviews (RGC: 21, 22, 62) › 21_Publication in refereed journal › peer-review

    Scopus citations: 8
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  23. Published

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

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

    Research output: Journal Publications and Reviews (RGC: 21, 22, 62) › 21_Publication in refereed journal › peer-review

    Scopus citations: 22
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  24. Published

    Exome sequencing of Saudi Arabian patients with ADPKD

    Al-Muhanna, F. A., Al-Rubaish, A. M., Vatte, C., Mohiuddin, S. S., Cyrus, C., Ahmad, A., Shakil Akhtar, M., & 13 othersAlbezra, M. A., Alali, R. A., Almuhanna, A. F., Huang, K., Wang, L., Al-Kuwaiti, F., Elsalamouni, T. S. A., Al Hwiesh, A., Huang, X., Keating, B., Li, J., Lanktree, M. B. & Al-Ali, A. K., 2019, In: Renal Failure. 41, 1, p. 842–849

    Research output: Journal Publications and Reviews (RGC: 21, 22, 62) › 21_Publication in refereed journal › peer-review

    Scopus citations: 4
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