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Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.
Hijazi H, Coelho FS, Gonzaga-Jauregui C, Bernardini L, Mar SS, Manning MA, Hanson-Kahn A, Naidu S, Srivastava S, Lee JA, Jones JR, Friez MJ, Alberico T, Torres B, Fang P, Cheung SW, Song X, Davis-Williams A, Jornlin C, Wight PA, Patyal P, Taube J, Poretti A, Inoue K, Zhang F, Pehlivan D, Carvalho CMB, Hobson GM, Lupski JR. Hijazi H, et al. Among authors: zhang f. Hum Mutat. 2020 Jan;41(1):150-168. doi: 10.1002/humu.23902. Epub 2019 Nov 14. Hum Mutat. 2020. PMID: 31448840 Free PMC article.
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: zhang f. 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.
TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.
Liu J, Wu N; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Yang N, Takeda K, Chen W, Li W, Du R, Liu S, Zhou Y, Zhang L, Liu Z, Zuo Y, Zhao S, Blank R, Pehlivan D, Dong S, Zhang J, Shen J, Si N, Wang Y, Liu G, Li S, Zhao Y, Zhao H, Chen Y, Zhao Y, Song X, Hu J, Lin M, Tian Y, Yuan B, Yu K, Niu Y, Yu B, Li X, Chen J, Yan Z, Zhu Q, Meng X, Chen X, Su J, Zhao X, Wang X, Ming Y, Li X, Raggio CL, Zhang B, Weng X, Zhang S, Zhang X, Watanabe K, Matsumoto M; Japan Early Onset Scoliosis Research Group; Jin L, Shen Y, Sobreira NL, Posey JE, Giampietro PF, Valle D; Baylor-Hopkins Center for Mendelian Genomics; Liu P, Wu Z, Ikegawa S, Lupski JR, Zhang F, Qiu G. Liu J, et al. Among authors: zhang l, zhang b, zhang s, zhang f, zhang j, zhang x. Genet Med. 2019 Jul;21(7):1548-1558. doi: 10.1038/s41436-018-0377-x. Epub 2019 Jan 14. Genet Med. 2019. PMID: 30636772 Free PMC article.
Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome.
Yang N, Wu N, Dong S, Zhang L, Zhao Y, Chen W, Du R, Song C, Ren X, Liu J, Pehlivan D, Liu Z, Rao J, Wang C, Zhao S, Breman AM, Xue H, Sun H, Shen J, Zhang S, Posey JE, Xu H, Jin L, Zhang J, Liu P, Sanna-Cherchi S, Qiu G, Wu Z, Lupski JR, Zhang F. Yang N, et al. Among authors: zhang l, zhang s, zhang f, zhang j. Kidney Int. 2020 Oct;98(4):1020-1030. doi: 10.1016/j.kint.2020.04.045. Epub 2020 May 22. Kidney Int. 2020. PMID: 32450157 Free PMC article.
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.
Chen N, Zhao S, Jolly A, Wang L, Pan H, Yuan J, Chen S, Koch A, Ma C, Tian W, Jia Z, Kang J, Zhao L, Qin C, Fan X, Rall K, Coban-Akdemir Z, Chen Z, Jhangiani S, Liang Z, Niu Y, Li X, Yan Z, Wu Y, Dong S, Song C, Qiu G, Zhang S, Liu P, Posey JE, Zhang F, Luo G, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study group; Su J, Zhang J, Chen EY, Rouskas K, Glentis S, Bacopoulou F, Deligeoroglou E, Chrousos G, Lyonnet S, Polak M, Rosenberg C, Dingeldein I, Bonilla X, Borel C, Gibbs RA, Dietrich JE, Dimas AS, Antonarakis SE, Brucker SY, Lupski JR, Wu N, Zhu L. Chen N, et al. Among authors: zhang s, zhang f, zhang j. Am J Hum Genet. 2021 Feb 4;108(2):337-345. doi: 10.1016/j.ajhg.2020.12.014. Am J Hum Genet. 2021. PMID: 33434492 Free PMC article.
Effects of long-term averaging of quantitative blood pressure traits on the detection of genetic associations.
Ganesh SK, Chasman DI, Larson MG, Guo X, Verwoert G, Bis JC, Gu X, Smith AV, Yang ML, Zhang Y, Ehret G, Rose LM, Hwang SJ, Papanicolau GJ, Sijbrands EJ, Rice K, Eiriksdottir G, Pihur V, Ridker PM, Vasan RS, Newton-Cheh C; Global Blood Pressure Genetics Consortium; Raffel LJ, Amin N, Rotter JI, Liu K, Launer LJ, Xu M, Caulfield M, Morrison AC, Johnson AD, Vaidya D, Dehghan A, Li G, Bouchard C, Harris TB, Zhang H, Boerwinkle E, Siscovick DS, Gao W, Uitterlinden AG, Rivadeneira F, Hofman A, Willer CJ, Franco OH, Huo Y, Witteman JC, Munroe PB, Gudnason V, Palmas W, van Duijn C, Fornage M, Levy D, Psaty BM, Chakravarti A. Ganesh SK, et al. Among authors: zhang h, zhang y. Am J Hum Genet. 2014 Jul 3;95(1):49-65. doi: 10.1016/j.ajhg.2014.06.002. Epub 2014 Jun 26. Am J Hum Genet. 2014. PMID: 24975945 Free PMC article.
Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.
Zhang L, Choi HJ, Estrada K, Leo PJ, Li J, Pei YF, Zhang Y, Lin Y, Shen H, Liu YZ, Liu Y, Zhao Y, Zhang JG, Tian Q, Wang YP, Han Y, Ran S, Hai R, Zhu XZ, Wu S, Yan H, Liu X, Yang TL, Guo Y, Zhang F, Guo YF, Chen Y, Chen X, Tan L, Zhang L, Deng FY, Deng H, Rivadeneira F, Duncan EL, Lee JY, Han BG, Cho NH, Nicholson GC, McCloskey E, Eastell R, Prince RL, Eisman JA, Jones G, Reid IR, Sambrook PN, Dennison EM, Danoy P, Yerges-Armstrong LM, Streeten EA, Hu T, Xiang S, Papasian CJ, Brown MA, Shin CS, Uitterlinden AG, Deng HW. Zhang L, et al. Among authors: zhang f, zhang jg, zhang y. Hum Mol Genet. 2014 Apr 1;23(7):1923-33. doi: 10.1093/hmg/ddt575. Epub 2013 Nov 17. Hum Mol Genet. 2014. PMID: 24249740 Free PMC article.
Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility.
Liu C, Tu C, Wang L, Wu H, Houston BJ, Mastrorosa FK, Zhang W, Shen Y, Wang J, Tian S, Meng L, Cong J, Yang S, Jiang Y, Tang S, Zeng Y, Lv M, Lin G, Li J, Saiyin H, He X, Jin L, Touré A, Ray PF, Veltman JA, Shi Q, O'Bryan MK, Cao Y, Tan YQ, Zhang F. Liu C, et al. Among authors: zhang f, zhang w. Am J Hum Genet. 2021 Feb 4;108(2):309-323. doi: 10.1016/j.ajhg.2021.01.002. Epub 2021 Jan 19. Am J Hum Genet. 2021. PMID: 33472045 Free PMC article.
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