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Genetic association and characterization of FSTL5 in isolated clubfoot.
Khanshour AM, Kidane YH, Kozlitina J, Cornelia R, Rafipay A, De Mello V, Weston M, Paria N, Khalid A, Hecht JT, Dobbs MB, Richards BS, Vargesson N, Hamra FK, Wilson M, Wise C, Gurnett CA, Rios JJ. Khanshour AM, et al. Among authors: rios jj. Hum Mol Genet. 2021 Jan 21;29(22):3717-3728. doi: 10.1093/hmg/ddaa236. Hum Mol Genet. 2021. PMID: 33105483 Free PMC article.
Germline Saturation Mutagenesis Induces Skeletal Phenotypes in Mice.
Rios JJ, Denton K, Russell J, Kozlitina J, Ferreira CR, Lewanda AF, Mayfield JE, Moresco E, Ludwig S, Tang M, Li X, Lyon S, Khanshour A, Paria N, Khalid A, Li Y, Xie X, Feng JQ, Xu Q, Lu Y, Hammer RE, Wise CA, Beutler B. Rios JJ, et al. J Bone Miner Res. 2021 Aug;36(8):1548-1565. doi: 10.1002/jbmr.4323. Epub 2021 May 10. J Bone Miner Res. 2021. PMID: 33905568 Free PMC article.
RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation.
Rios JJ, Li Y, Paria N, Bohlender RJ, Huff C, Rosenfeld JA, Liu P, Bi W, Haga K, Fukuda M, Vashisth S, Kaur K, Chahrour MH, Bober MB, Duker AL, Ladha FA, Hanchard NA, Atala K, Khanshour AM, Smith L, Wise CA, Delgado MR. Rios JJ, et al. Am J Hum Genet. 2023 Dec 7;110(12):2103-2111. doi: 10.1016/j.ajhg.2023.10.009. Epub 2023 Nov 3. Am J Hum Genet. 2023. PMID: 37924809 Free PMC article.
Molecular Dissection of Somatic Skeletal Disease in Neurofibromatosis Type 1.
Paria N, Khalid A, Shen B, Lemoine B, Chan J, Kidane YH, Oxendine I, Cornelia R, Wise CA, Rios JJ. Paria N, et al. Among authors: rios jj. J Bone Miner Res. 2023 Feb;38(2):288-299. doi: 10.1002/jbmr.4755. Epub 2022 Dec 13. J Bone Miner Res. 2023. PMID: 36459048 Free PMC article.
150 results