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CIC missense variants contribute to susceptibility for spina bifida.
Han X, Cao X, Aguiar-Pulido V, Yang W, Karki M, Ramirez PAP, Cabrera RM, Lin YL, Wlodarczyk BJ, Shaw GM, Ross ME, Zhang C, Finnell RH, Lei Y. Han X, et al. Among authors: yang w. Hum Mutat. 2022 Dec;43(12):2021-2032. doi: 10.1002/humu.24460. Epub 2022 Sep 12. Hum Mutat. 2022. PMID: 36054333 Free PMC article.
Exome sequencing identifies genetic variants in anophthalmia and microphthalmia.
Li J, Yang W, Wang YJ, Ma C, Curry CJ, McGoldrick D, Nickerson DA, Chong JX, Blue EE, Mullikin JC, Reefhuis J, Nembhard WN, Romitti PA, Werler MM, Browne ML, Olshan AF, Finnell RH, Feldkamp ML, Pangilinan F, Almli LM, Bamshad MJ, Brody LC, Jenkins MM, Shaw GM; NISC Comparative Sequencing Program; University of Washington Center for Mendelian Genomics; National Birth Defects Prevention Study. Li J, et al. Among authors: yang w. Am J Med Genet A. 2022 Aug;188(8):2376-2388. doi: 10.1002/ajmg.a.62874. Epub 2022 Jun 18. Am J Med Genet A. 2022. PMID: 35716026 Free PMC article.
Maternal cigarette smoking and alcohol consumption and congenital diaphragmatic hernia.
Finn J, Suhl J, Kancherla V, Conway KM, Oleson J, Sidhu A, Nestoridi E, Fisher SC, Rasmussen SA, Yang W, Romitti PA; National Birth Defects Prevention Study. Finn J, et al. Among authors: yang w. Birth Defects Res. 2022 Aug 1;114(13):746-758. doi: 10.1002/bdr2.2059. Epub 2022 Jun 27. Birth Defects Res. 2022. PMID: 35757961 Free PMC article.
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