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Year Number of Results
2018 2
2019 15
2020 12
2021 2
2022 2
2024 0

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31 results

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Page 1
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.
Maternal Exposure to Disinfection By-Products and Risk of Hypospadias in the National Birth Defects Prevention Study (2000-2005).
Zaganjor I, Luben TJ, Desrosiers TA, Keil AP, Engel LS, Michalski AM, Carmichael SL, Nembhard WN, Shaw GM, Reefhuis J, Yazdy MM, Langlois PH, Feldkamp ML, Romitti PA, Olshan AF, The National Birth Defects Prevention Study. Zaganjor I, et al. Int J Environ Res Public Health. 2020 Dec 21;17(24):9564. doi: 10.3390/ijerph17249564. Int J Environ Res Public Health. 2020. PMID: 33371304 Free PMC article.
FKBP8 variants are risk factors for spina bifida.
Tian T, Cao X, Kim SE, Lin YL, Steele JW, Cabrera RM, Karki M, Yang W, Marini NJ, Hoffman EN, Han X, Hu C, Wang L, Wlodarczyk BJ, Shaw GM, Ren A, Finnell RH, Lei Y. Tian T, et al. Hum Mol Genet. 2020 Nov 4;29(18):3132-3144. doi: 10.1093/hmg/ddaa211. Hum Mol Genet. 2020. PMID: 32969478 Free PMC article.
31 results