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Page 1
Analysis of induced pluripotent stem cells from a BRCA1 mutant family.
Soyombo AA, Wu Y, Kolski L, Rios JJ, Rakheja D, Chen A, Kehler J, Hampel H, Coughran A, Ross TS. Soyombo AA, et al. Among authors: rios jj. Stem Cell Reports. 2013 Oct 3;1(4):336-49. doi: 10.1016/j.stemcr.2013.08.004. eCollection 2013. Stem Cell Reports. 2013. PMID: 24319668 Free PMC article.
SCGN deficiency results in colitis susceptibility.
Sifuentes-Dominguez LF, Li H, Llano E, Liu Z, Singla A, Patel AS, Kathania M, Khoury A, Norris N, Rios JJ, Starokadomskyy P, Park JY, Gopal P, Liu Q, Tan S, Chan L, Ross T, Harrison S, Venuprasad K, Baker LA, Jia D, Burstein E. Sifuentes-Dominguez LF, et al. Among authors: rios jj. Elife. 2019 Oct 30;8:e49910. doi: 10.7554/eLife.49910. Elife. 2019. PMID: 31663849 Free PMC article.
Whole-exome sequencing: discovering genetic causes of orthopaedic disorders.
Paria N, Copley LA, Herring JA, Kim HK, Richards BS, Sucato DJ, Wise CA, Rios JJ. Paria N, et al. Among authors: rios jj. J Bone Joint Surg Am. 2013 Dec 4;95(23):e1851-8. doi: 10.2106/JBJS.L.01620. J Bone Joint Surg Am. 2013. PMID: 24306708 Review. No abstract available.
Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci.
Khanshour AM, Kou I, Fan Y, Einarsdottir E, Makki N, Kidane YH, Kere J, Grauers A, Johnson TA, Paria N, Patel C, Singhania R, Kamiya N, Takeda K, Otomo N, Watanabe K, Luk KDK, Cheung KMC, Herring JA, Rios JJ, Ahituv N, Gerdhem P, Gurnett CA, Song YQ, Ikegawa S, Wise CA. Khanshour AM, et al. Among authors: rios jj. Hum Mol Genet. 2018 Nov 15;27(22):3986-3998. doi: 10.1093/hmg/ddy306. Hum Mol Genet. 2018. PMID: 30395268 Free PMC article.
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease.
Chen W, Lin J, Wang L, Li X, Zhao S, Liu J, Akdemir ZC, Zhao Y, Du R, Ye Y, Song X, Zhang Y, Yan Z, Yang X, Lin M, Shen J, Wang S, Gao N, Yang Y, Liu Y, Li W, Liu J, Zhang N, Yang X, Xu Y, Zhang J, Delgado MR, Posey JE, Qiu G, Rios JJ, Liu P, Wise CA, Zhang F, Wu Z, Lupski JR, Wu N. Chen W, et al. Among authors: rios jj. Hum Mutat. 2020 Jan;41(1):182-195. doi: 10.1002/humu.23907. Epub 2019 Sep 26. Hum Mutat. 2020. PMID: 31471994 Free PMC article.
151 results