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Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience.
Hu X, Li N, Xu Y, Li G, Yu T, Yao RE, Fu L, Wang J, Yin L, Yin Y, Wang Y, Jin X, Wang X, Wang J, Shen Y. Hu X, et al. Among authors: wang x, wang j, wang y. Genet Med. 2018 Sep;20(9):1045-1053. doi: 10.1038/gim.2017.195. Epub 2017 Nov 2. Genet Med. 2018. PMID: 29095814 Free article.
Novel pathogenic ACAN variants in non-syndromic short stature patients.
Hu X, Gui B, Su J, Li H, Li N, Yu T, Zhang Q, Xu Y, Li G, Chen Y, Qing Y; Chinese Genetic Short Stature Consortium; Li C, Luo J, Fan X, Ding Y, Li J, Wang J, Wang X, Chen S, Shen Y. Hu X, et al. Among authors: wang x, wang j. Clin Chim Acta. 2017 Jun;469:126-129. doi: 10.1016/j.cca.2017.04.004. Epub 2017 Apr 7. Clin Chim Acta. 2017. PMID: 28396070
Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay: Case report and literature review.
Li N, Xu Y, Li G, Yu T, Yao RE, Wang X, Wang J. Li N, et al. Among authors: wang x, wang j. Medicine (Baltimore). 2017 May;96(20):e6914. doi: 10.1097/MD.0000000000006914. Medicine (Baltimore). 2017. PMID: 28514307 Free PMC article. Review.
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