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Page 1
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.
Rebello D, Wohler E, Erfani V, Li G, Aguilera AN, Santiago-Cornier A, Zhao S, Hwang SW, Steiner RD, Zhang TJ, Gurnett CA, Raggio C, Wu N, Sobreira N, Giampietro PF, Ciruna B. Rebello D, et al. Among authors: santiago cornier a. Hum Mol Genet. 2023 Sep 16;32(19):2913-2928. doi: 10.1093/hmg/ddad117. Hum Mol Genet. 2023. PMID: 37462524 Free PMC article.
Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.
Vicary GW, Vergne Y, Santiago-Cornier A, Young LR, Roman J. Vicary GW, et al. Among authors: santiago cornier a. Ann Am Thorac Soc. 2016 Oct;13(10):1839-1846. doi: 10.1513/AnnalsATS.201603-186FR. Ann Am Thorac Soc. 2016. PMID: 27529121 Free PMC article. Review.
9q34 & 16p13 chromosome duplications in autism.
Carlo SE, Martinez-Baladejo MT, Santiago-Cornier A, Arciniegas-Medina N. Carlo SE, et al. Among authors: santiago cornier a. AME Case Rep. 2020 Jul 30;4:17. doi: 10.21037/acr.2020.03.07. eCollection 2020. AME Case Rep. 2020. PMID: 32793859 Free PMC article.
The musculoskeletal manifestations of the Coffin-Lowry syndrome.
Herrera-Soto JA, Santiago-Cornier A, Segal LS, Ramirez N, Tamai J. Herrera-Soto JA, et al. Among authors: santiago cornier a. J Pediatr Orthop. 2007 Jan-Feb;27(1):85-9. doi: 10.1097/01.bpo.0000187994.94515.9d. J Pediatr Orthop. 2007. PMID: 17195803
Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.
Giampietro PF, Armstrong L, Stoddard A, Blank RD, Livingston J, Raggio CL, Rasmussen K, Pickart M, Lorier R, Turner A, Sund S, Sobrera N, Neptune E, Sweetser D, Santiago-Cornier A, Broeckel U. Giampietro PF, et al. Among authors: santiago cornier a. Am J Med Genet A. 2015 Jan;167A(1):95-102. doi: 10.1002/ajmg.a.36799. Epub 2014 Oct 27. Am J Med Genet A. 2015. PMID: 25348728
A meta-analysis identifies adolescent idiopathic scoliosis association with LBX1 locus in multiple ethnic groups.
Londono D, Kou I, Johnson TA, Sharma S, Ogura Y, Tsunoda T, Takahashi A, Matsumoto M, Herring JA, Lam TP, Wang X, Tam EM, Song YQ, Fan YH, Chan D, Cheah KS, Qiu X, Jiang H, Huang D; Japanese Scoliosis Clinical Research Group; TSRHC IS Clinical Group, International Consortium for Scoliosis Genetics, Su P, Sham P, Cheung KM, Luk KD, Gordon D, Qiu Y, Cheng J, Tang N, Ikegawa S, Wise CA. Londono D, et al. J Med Genet. 2014 Jun;51(6):401-6. doi: 10.1136/jmedgenet-2013-102067. Epub 2014 Apr 10. J Med Genet. 2014. PMID: 24721834