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Year Number of Results
2015 1
2016 2
2017 6
2018 12
2019 8
2020 6
2021 0
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30 results
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Page 1
Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.
Lu HC, Tan Q, Rousseaux MW, Wang W, Kim JY, Richman R, Wan YW, Yeh SY, Patel JM, Liu X, Lin T, Lee Y, Fryer JD, Han J, Chahrour M, Finnell RH, Lei Y, Zurita-Jimenez ME, Ahimaz P, Anyane-Yeboa K, Van Maldergem L, Lehalle D, Jean-Marcais N, Mosca-Boidron AL, Thevenon J, Cousin MA, Bro DE, Lanpher BC, Klee EW, Alexander N, Bainbridge MN, Orr HT, Sillitoe RV, Ljungberg MC, Liu Z, Schaaf CP, Zoghbi HY. Lu HC, et al. Nat Genet. 2017 Apr;49(4):527-536. doi: 10.1038/ng.3808. Epub 2017 Mar 13. Nat Genet. 2017. PMID: 28288114 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
Variants identified in PTK7 associated with neural tube defects.
Lei Y, Kim SE, Chen Z, Cao X, Zhu H, Yang W, Shaw GM, Zheng Y, Zhang T, Wang HY, Finnell RH. Lei Y, et al. Mol Genet Genomic Med. 2019 Apr;7(4):e00584. doi: 10.1002/mgg3.584. Epub 2019 Jan 28. Mol Genet Genomic Med. 2019. PMID: 30689296 Free PMC article.
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