Mr. LI Jiankang (李建康)

Research Output

  1. 2020
  2. Online 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., 10 Jun 2020, In : Gene. 754, 144890.

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

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  3. Online 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 others, Qu, S., Huang, J., Wang, L., Wu, J. & Chen, F., 26 Apr 2020, In : Molecular genetics & genomic medicine. e1218.

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

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  4. 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 others, Yang, 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

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  5. Online 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 others, Liu, W., Qi, Y., Li, W., Wang, M., Zhang, S., Xu, G., Chang, Q. & Wu, J., 18 Mar 2020, In : British Journal of Ophthalmology.

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

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  6. 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 others, Zhang, 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

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  7. 2019
  8. 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 others, Wang, 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

    Scopus citations: 8
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  9. 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, 22, 62)21_Publication in refereed journal

    Scopus citations: 3
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  10. Online 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 others, Zhang, Y., Li, W., Chen, F., Xu, G., Liu, W., Chang, Q. & Wu, J., 13 Sep 2019, In : British Journal of Ophthalmology.

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

    Scopus citations: 4
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  11. 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 others, Wang, L., Li, W., Wang, M., Chen, F., Shen, S., Xu, G., Zhang, S., Chang, Q. & Wu, J., Sep 2019, In : Frontiers in Genetics. 10, 773.

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

    Scopus citations: 3
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  12. 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 others, Albezra, 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

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  13. Published

    Expanding the clinical and genetic spectrum of Heimler syndrome

    Gao, F., Hu, F., Xu, P., Qi, Y., Li, J., Zhang, Y., Chen, F. & 5 others, Chang, Q., Song, F., Shen, S., Xu, G. & Wu, J., 2019, In : Orphanet Journal of Rare Diseases. 14, 12 p., 290.

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

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