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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. 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.
Paternal genetic variants and risk of obstructive heart defects: A parent-of-origin approach.
Patel J, Bircan E, Tang X, Orloff M, Hobbs CA, Browne ML, Botto LD, Finnell RH, Jenkins MM, Olshan A, Romitti PA, Shaw GM, Werler MM, Li J, Nembhard WN; National Birth Defects Prevention Study. Patel J, et al. PLoS Genet. 2021 Mar 8;17(3):e1009413. doi: 10.1371/journal.pgen.1009413. eCollection 2021 Mar. PLoS Genet. 2021. PMID: 33684136 Free PMC article.
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