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Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients.
Huang H, Wang Y, Chen H, Chen Y, Wu J, Chiang PW, Fan N, Su Y, Deng J, Chen D, Li Y, Zhang X, Zhang M, Liang S, Banerjee S, Qi M, Liu X. Huang H, et al. Among authors: su y. Oncotarget. 2017 May 23;8(21):35176-35183. doi: 10.18632/oncotarget.17052. Oncotarget. 2017. PMID: 28456785 Free PMC article.
Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2.
Banerjee S, Chen H, Huang H, Wu J, Yang Z, Deng W, Chen D, Deng J, Su Y, Li Y, Wu C, Wang Y, Zeng H, Wang Y, Li X. Banerjee S, et al. Among authors: su y. Oncotarget. 2016 Nov 29;7(48):78363-78371. doi: 10.18632/oncotarget.13279. Oncotarget. 2016. PMID: 27852057 Free PMC article.
Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa.
Huang H, Chen Y, Chen H, Ma Y, Chiang PW, Zhong J, Liu X, Asan, Wu J, Su Y, Li X, Deng J, Huang Y, Zhang X, Li Y, Fan N, Wang Y, Tang L, Shen J, Chen M, Zhang X, Te D, Banerjee S, Liu H, Qi M, Yi X. Huang H, et al. Among authors: su y. PLoS One. 2018 Apr 11;13(4):e0185237. doi: 10.1371/journal.pone.0185237. eCollection 2018. PLoS One. 2018. PMID: 29641573 Free PMC article.
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