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Prenatal diagnosis of polycystic renal diseases: diagnostic yield, novel disease-causing variants, and genotype-phenotype correlations.
Huang R, Fu F, Guo F, Zhou H, Yu Q, Yan S, Liu L, Lu J, Ma C, Wang Y, Chen H, Wang D, Zhang Y, Jing X, Li F, Han J, Li D, Li R, Liao C. Huang R, et al. Among authors: zhang y. Am J Obstet Gynecol MFM. 2024 Jan;6(1):101228. doi: 10.1016/j.ajogmf.2023.101228. Epub 2023 Nov 18. Am J Obstet Gynecol MFM. 2024. PMID: 37984685 Review.
Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing.
Liao C, Yin AH, Peng CF, Fu F, Yang JX, Li R, Chen YY, Luo DH, Zhang YL, Ou YM, Li J, Wu J, Mai MQ, Hou R, Wu F, Luo H, Li DZ, Liu HL, Zhang XZ, Zhang K. Liao C, et al. Proc Natl Acad Sci U S A. 2014 May 20;111(20):7415-20. doi: 10.1073/pnas.1321997111. Epub 2014 May 5. Proc Natl Acad Sci U S A. 2014. PMID: 24799683 Free PMC article.
Characterization of 26 deletion CNVs reveals the frequent occurrence of micro-mutations within the breakpoint-flanking regions and frequent repair of double-strand breaks by templated insertions derived from remote genomic regions.
Wang Y, Su P, Hu B, Zhu W, Li Q, Yuan P, Li J, Guan X, Li F, Jing X, Li R, Zhang Y, Férec C, Cooper DN, Wang J, Huang D, Chen JM, Wang Y. Wang Y, et al. Among authors: zhang y. Hum Genet. 2015 Jun;134(6):589-603. doi: 10.1007/s00439-015-1539-4. Epub 2015 Mar 20. Hum Genet. 2015. PMID: 25792359
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