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Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
Martignetti JA, Tian L, Li D, Ramirez MC, Camacho-Vanegas O, Camacho SC, Guo Y, Zand DJ, Bernstein AM, Masur SK, Kim CE, Otieno FG, Hou C, Abdel-Magid N, Tweddale B, Metry D, Fournet JC, Papp E, McPherson EW, Zabel C, Vaksmann G, Morisot C, Keating B, Sleiman PM, Cleveland JA, Everman DB, Zackai E, Hakonarson H. Martignetti JA, et al. Am J Hum Genet. 2013 Jun 6;92(6):1001-7. doi: 10.1016/j.ajhg.2013.04.024. Epub 2013 May 23. Am J Hum Genet. 2013. PMID: 23731542 Free PMC article.
Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts.
Camacho-Vanegas O, Camacho SC, Till J, Miranda-Lorenzo I, Terzo E, Ramirez MC, Schramm V, Cordovano G, Watts G, Mehta S, Kimonis V, Hoch B, Philibert KD, Raabe CA, Bishop DF, Glucksman MJ, Martignetti JA. Camacho-Vanegas O, et al. Am J Hum Genet. 2012 Apr 6;90(4):614-27. doi: 10.1016/j.ajhg.2012.02.024. Epub 2012 Mar 29. Am J Hum Genet. 2012. PMID: 22464254 Free PMC article.
Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice.
Shalata A, Ramirez MC, Desnick RJ, Priedigkeit N, Buettner C, Lindtner C, Mahroum M, Abdul-Ghani M, Dong F, Arar N, Camacho-Vanegas O, Zhang R, Camacho SC, Chen Y, Ibdah M, DeFronzo R, Gillespie V, Kelley K, Dynlacht BD, Kim S, Glucksman MJ, Borochowitz ZU, Martignetti JA. Shalata A, et al. Am J Hum Genet. 2013 Dec 5;93(6):1061-71. doi: 10.1016/j.ajhg.2013.10.025. Epub 2013 Nov 21. Am J Hum Genet. 2013. PMID: 24268657 Free PMC article.
Genomic Analysis of Uterine Lavage Fluid Detects Early Endometrial Cancers and Reveals a Prevalent Landscape of Driver Mutations in Women without Histopathologic Evidence of Cancer: A Prospective Cross-Sectional Study.
Nair N, Camacho-Vanegas O, Rykunov D, Dashkoff M, Camacho SC, Schumacher CA, Irish JC, Harkins TT, Freeman E, Garcia I, Pereira E, Kendall S, Belfer R, Kalir T, Sebra R, Reva B, Dottino P, Martignetti JA. Nair N, et al. Among authors: camacho vanegas o. PLoS Med. 2016 Dec 27;13(12):e1002206. doi: 10.1371/journal.pmed.1002206. eCollection 2016 Dec. PLoS Med. 2016. PMID: 28027320 Free PMC article.
Rapid development and use of patient-specific ctDNA biomarkers to avoid a "rash decision" in an ovarian cancer patient.
Pandya D, Camacho SC, Padron MM, Camacho-Vanegas O, Billaud JN, Beddoe AM, Irish J, Yoxtheimer L, Kalir T, RoseFigura J, Dottino P, Martignetti JA. Pandya D, et al. Among authors: camacho vanegas o. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004648. doi: 10.1101/mcs.a004648. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31628202 Free PMC article.
The impact of simvastatin on pulmonary effectors of Pseudomonas aeruginosa infection.
Hennessy E, O'Callaghan J, Mooij MJ, Legendre C, Camacho-Vanegas O, Camacho SC, Adams C, Martignetti JA, O'Gara F. Hennessy E, et al. Among authors: camacho vanegas o. PLoS One. 2014 Jul 10;9(7):e102200. doi: 10.1371/journal.pone.0102200. eCollection 2014. PLoS One. 2014. PMID: 25010049 Free PMC article.
33 results