Publications

Selected publications

  • Yu H, Khanshour AM, Ushiki A, Otomo N, Koike Y, Einarsdottir E, Fan Y, Antunes L, Kidane YH, Cornelia T, Sheng R, Zhang Y, Pei J, Grishin NV, Evers BM, Yin Cheung JP, Herring JA, Terao C, Song YQ, Gurnett CA, Gerdhem P, Ikegawa S, Rios JJ, Ahituv N, Wise CA. Association of an estrogen-sensitive Pax1-Col11a1-Mmp3 signaling axis with adolescent idiopathic scoliosis. eLife in press.
  • doi:10.1101/2023.05.26.542293. Preprint. Paria N, Khalid A, Shen B, Lemoine B, Chan J, Kidane YH, Oxendine I, Cornelia R, Wise CA, Rios JJ. Molecular dissection of somatic skeletal disease in neurofibromatosis type 1. Journal of Bone and Mineral Research. 2023; 38(2): 288-299. PMID: 36459048. 
  • Rios JJ, Denton K, Yu H, Manickham K, Garner S, Russell J, Ludwig S, Rosenfeld HA, Liu P, Munch J, Sucato DJ, Beutler B, Wise CA. Saturation mutagenesis defines novel mouse models of severe spine deformity. Disease Models & Mechanisms. 2021; 14(6):dmm048901. PMID: 34142127. 
  • 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. Germline saturation mutagenesis induces skeletal phenotypes in mice. Journal of Bone and Mineral Research. 2021; 36(8):1548-1565. PMID: 33905568. 
  • CKhanshour A, 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 Y, Ikegawa S and Wise CA. Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci. Human Molecular Genetics, ddy306. 2018; 27(22): 3986-3998. Doi: 10.1093/hmg/ddy306. PMID: 30395268. 
  • Gray MJ, Kannu P, Sharma S, Neyt C, Zhang D, Paria N, Daniel PB, Whetstone H, Sprenger H, Hammerschmidt P, Weng A, Dupuis L, Jobling R, Mendoza-Londono R, Dray M, Su P, Wilson MJ, Kapur RP, McCarthy EF, Alman BA, Howard A, Somers GR, Marshall CR, Manners S, Flanagan AM, Rathjen K, Karol LA, Crawford H, Markie DM, Rios JJ, Wise CA, Robertson SP. Mutations preventing regulated exon skipping in MET cause osteofibrous dysplasia. Amer J Hum Genet, t. 2015;97(6):837-47. PMID: 26637977; PMCID: 4678433. (co-corresponding author) 
  • Sharma S, Londono D, Eckalbar WL, Gao X, Zhang D, Mauldin K, Kou I, Takahashi A, Matsumoto M, Kamiya N, Murphy KK, Cornelia R; TSRHC Scoliosis Clinical Group; Japan Scoliosis Clinical Research Group, Herring JA, Burns D, Ahituv N, Ikegawa S, Gordon D, Wise CA. A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females. Nat Commun. 2015 6:6452. doi: 10.1038/ncomms7452. (2015) [PMID: 25784220]