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Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.
Malinowski J, Miller DT, Demmer L, Gannon J, Pereira EM, Schroeder MC, Scheuner MT, Tsai AC, Hickey SE, Shen J; ACMG Professional Practice and Guidelines Committee. Malinowski J, et al. Among authors: shen j. Genet Med. 2020 Jun;22(6):986-1004. doi: 10.1038/s41436-020-0771-z. Epub 2020 Mar 23. Genet Med. 2020. PMID: 32203227 Free PMC article.
Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing.
Soares de Lima Y, Chiabai M, Shen J, Córdoba MS, Versiani BR, Benício ROA, Pogue R, Mingroni-Netto RC, Lezirovitz K, Pic-Taylor A, Mazzeu JF, Oliveira SF. Soares de Lima Y, et al. Among authors: shen j. Hear Res. 2018 Dec;370:181-188. doi: 10.1016/j.heares.2018.10.008. Epub 2018 Oct 16. Hear Res. 2018. PMID: 30390570
Clinical Interpretation of Sequence Variants.
Zhang J, Yao Y, He H, Shen J. Zhang J, et al. Among authors: shen j. Curr Protoc Hum Genet. 2020 Jun;106(1):e98. doi: 10.1002/cphg.98. Curr Protoc Hum Genet. 2020. PMID: 32176464 Free PMC article.
Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi's Granuloma: The Consequences of Skin Barrier Dysfunction.
Wang T, Xu C, Zhou X, Li C, Zhang H, Lian BQ, Lee JJ, Shen J, Liu Y, Lian CG. Wang T, et al. Among authors: shen j. Int J Mol Sci. 2015 Sep 9;16(9):21791-801. doi: 10.3390/ijms160921791. Int J Mol Sci. 2015. PMID: 26370990 Free PMC article.
Basonuclin 1 deficiency is a cause of primary ovarian insufficiency.
Zhang D, Liu Y, Zhang Z, Lv P, Liu Y, Li J, Wu Y, Zhang R, Huang Y, Xu G, Qian Y, Qian Y, Chen S, Xu C, Shen J, Zhu L, Chen K, Zhu B, Ye X, Mao Y, Bo X, Zhou C, Wang T, Chen D, Yang W, Tan Y, Song Y, Zhou D, Sheng J, Gao H, Zhu Y, Li M, Wu L, He L, Huang H. Zhang D, et al. Among authors: shen j. Hum Mol Genet. 2018 Nov 1;27(21):3787-3800. doi: 10.1093/hmg/ddy261. Hum Mol Genet. 2018. PMID: 30010909
21,053 results
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