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The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
Liu J, Zhou Y, Liu S, Song X, Yang XZ, Fan Y, Chen W, Akdemir ZC, Yan Z, Zuo Y, Du R, Liu Z, Yuan B, Zhao S, Liu G, Chen Y, Zhao Y, Lin M, Zhu Q, Niu Y, Liu P, Ikegawa S, Song YQ, Posey JE, Qiu G; DISCO (Deciphering disorders Involving Scoliosis and COmorbidities) Study; Zhang F, Wu Z, Lupski JR, Wu N. Liu J, et al. Among authors: du r. Hum Genet. 2018 Jul;137(6-7):553-567. doi: 10.1007/s00439-018-1910-3. Epub 2018 Jul 17. Hum Genet. 2018. PMID: 30019117 Free PMC article.
NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy.
Jiang Y, Zhang Y, Zhang P, Sang T, Zhang F, Ji T, Huang Q, Xie H, Du R, Cai B, Zhao H, Wang J, Wu Y, Wu H, Xu K, Liu X, Chan P, Wu X. Jiang Y, et al. Among authors: du r. Hum Genet. 2012 Jul;131(7):1217-24. doi: 10.1007/s00439-012-1149-3. Epub 2012 Feb 26. Hum Genet. 2012. PMID: 22367439
SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans.
Guan J, Wang D, Cao W, Zhao Y, Du R, Yuan H, Liu Q, Lan L, Zong L, Yang J, Yin Z, Han B, Zhang F, Wang Q. Guan J, et al. Among authors: du r. J Hum Genet. 2016 Nov;61(11):917-922. doi: 10.1038/jhg.2016.86. Epub 2016 Jul 7. J Hum Genet. 2016. PMID: 27383657 Free PMC article.
A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.
Dinckan N, Du R, Akdemir ZC, Bayram Y, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM, Guven Y, Aktoren O, Kayserili H, Boerwinkle E, Gibbs RA, Posey JE, Lupski JR, Uyguner ZO, Letra A. Dinckan N, et al. Among authors: du r. Am J Med Genet A. 2018 Apr;176(4):1015-1022. doi: 10.1002/ajmg.a.38625. Epub 2018 Feb 13. Am J Med Genet A. 2018. PMID: 29436111 Free PMC article.
2,541 results