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Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.
Sok P, Sabo A, Almli LM, Jenkins MM, Nembhard WN, Agopian AJ, Bamshad MJ, Blue EE, Brody LC, Brown AL, Browne ML, Canfield MA, Carmichael SL, Chong JX, Dugan-Perez S, Feldkamp ML, Finnell RH, Gibbs RA, Kay DM, Lei Y, Meng Q, Moore CA, Mullikin JC, Muzny D, Olshan AF, Pangilinan F, Reefhuis J, Romitti PA, Schraw JM, Shaw GM, Werler MM, Harpavat S, Lupo PJ; University of Washington Center for Mendelian Genomics, NISC Comparative Sequencing Program, the National Birth Defects Prevention Study. Sok P, et al. Among authors: lei y. Am J Med Genet A. 2023 Jun;191(6):1546-1556. doi: 10.1002/ajmg.a.63185. Epub 2023 Mar 21. Am J Med Genet A. 2023. PMID: 36942736
Identification of novel CELSR1 mutations in spina bifida.
Lei Y, Zhu H, Yang W, Ross ME, Shaw GM, Finnell RH. Lei Y, et al. PLoS One. 2014 Mar 14;9(3):e92207. doi: 10.1371/journal.pone.0092207. eCollection 2014. PLoS One. 2014. PMID: 24632739 Free PMC article.
Rare LRP6 variants identified in spina bifida patients.
Lei Y, Fathe K, McCartney D, Zhu H, Yang W, Ross ME, Shaw GM, Finnell RH. Lei Y, et al. Hum Mutat. 2015 Mar;36(3):342-9. doi: 10.1002/humu.22750. Hum Mutat. 2015. PMID: 25546815 Free PMC article.
New Techniques for the Study of Neural Tube Defects.
Lei Y, Finnell RH. Lei Y, et al. Adv Tech Biol Med. 2016 Feb;4(1):157. doi: 10.4172/2379-1764.1000157. Epub 2015 Dec 26. Adv Tech Biol Med. 2016. PMID: 27066597 Free PMC article.
Genetic analysis of Wnt/PCP genes in neural tube defects.
Chen Z, Lei Y, Cao X, Zheng Y, Wang F, Bao Y, Peng R, Finnell RH, Zhang T, Wang H. Chen Z, et al. Among authors: lei y. BMC Med Genomics. 2018 Apr 4;11(1):38. doi: 10.1186/s12920-018-0355-9. BMC Med Genomics. 2018. PMID: 29618362 Free PMC article.
6,640 results