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Page 1
The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
Thorpe E, Williams T, Shaw C, Chekalin E, Ortega J, Robinson K, Button J, Jones MC, Campo MD, Basel D, McCarrier J, Keppen LD, Royer E, Foster-Bonds R, Duenas-Roque MM, Urraca N, Bosfield K, Brown CW, Lydigsen H, Mroczkowski HJ, Ward J, Sirchia F, Giorgio E, Vaux K, Salguero HP, Lumaka A, Mubungu G, Makay P, Ngole M, Lukusa PT, Vanderver A, Muirhead K, Sherbini O, Lah MD, Anderson K, Bazalar-Montoya J, Rodriguez RS, Cornejo-Olivas M, Milla-Neyra K, Shinawi M, Magoulas P, Henry D, Gibson K, Wiafe S, Jayakar P, Salyakina D, Masser-Frye D, Serize A, Perez JE, Taylor A, Shenbagam S, Abou Tayoun A, Malhotra A, Bennett M, Rajan V, Avecilla J, Warren A, Arseneault M, Kalista T, Crawford A, Ajay SS, Perry DL, Belmont J, Taft RJ. Thorpe E, et al. Among authors: cornejo olivas m. Am J Hum Genet. 2024 Jul 11;111(7):1271-1281. doi: 10.1016/j.ajhg.2024.05.006. Epub 2024 Jun 5. Am J Hum Genet. 2024. PMID: 38843839 Free PMC article.
Lrrk2 p.Q1111H substitution and Parkinson's disease in Latin America.
Mata IF, Wilhoite GJ, Yearout D, Bacon JA, Cornejo-Olivas M, Mazzetti P, Marca V, Ortega O, Acosta O, Cosentino C, Torres L, Medina AC, Perez-Pastene C, Díaz-Grez F, Vilariño-Güell C, Venegas P, Miranda M, Trujillo-Godoy O, Layson L, Avello R, Dieguez E, Raggio V, Micheli F, Perandones C, Alvarez V, Segura-Aguilar J, Farrer MJ, Zabetian CP, Ross OA. Mata IF, et al. Parkinsonism Relat Disord. 2011 Sep;17(8):629-31. doi: 10.1016/j.parkreldis.2011.05.003. Epub 2011 May 31. Parkinsonism Relat Disord. 2011. PMID: 21632271 Free PMC article.
Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson's disease (LARGE-PD), a case of ancestry.
Cornejo-Olivas M, Torres L, Velit-Salazar MR, Inca-Martinez M, Mazzetti P, Cosentino C, Micheli F, Perandones C, Dieguez E, Raggio V, Tumas V, Borges V, Ferraz HB, Rieder CRM, Shumacher-Schuh A, Velez-Pardo C, Jimenez-Del-Rio M, Lopera F, Chang-Castello J, Andreé-Munoz B, Waldherr S, Yearout D, Zabetian CP, Mata IF. Cornejo-Olivas M, et al. NPJ Parkinsons Dis. 2017 Jun 2;3:19. doi: 10.1038/s41531-017-0020-6. eCollection 2017. NPJ Parkinsons Dis. 2017. PMID: 28649619 Free PMC article.
Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients.
Gama MTD, Braga-Neto P, Rangel DM, Godeiro C Jr, Alencar R, Embiruçu EK, Cornejo-Olivas M, Sarapura-Castro E, Saffie Awad P, Muñoz Chesta D, Kauffman M, Rodriguez-Quiroga S, Jardim LB, da Graça FF, França MC Jr, Tomaselli PJ, Marques W Jr, Teive HAG, Barsottini OGP, Pedroso JL, Synofzik M. Gama MTD, et al. Mov Disord. 2022 Aug;37(8):1773-1774. doi: 10.1002/mds.29046. Epub 2022 May 4. Mov Disord. 2022. PMID: 35507441 No abstract available.
Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil.
Gheno TC, Furtado GV, Saute JAM, Donis KC, Fontanari AMV, Emmel VE, Pedroso JL, Barsottini O, Godeiro-Junior C, van der Linden H, Ternes Pereira E, Cintra VP, Marques W Jr, de Castilhos RM, Alonso I, Sequeiros J, Cornejo-Olivas M, Mazzetti P, Leotti VB, Jardim LB, Saraiva-Pereira ML; Rede Neurogenetica. Gheno TC, et al. Eur J Neurol. 2017 Jul;24(7):892-e36. doi: 10.1111/ene.13281. Epub 2017 May 31. Eur J Neurol. 2017. PMID: 28560845
X-Chromosome Association Study in Latin American Cohorts Identifies New Loci in Parkinson Disease.
Leal TP, French-Kwawu JN, Gouveia MH, Borda V, Inca-Martinez M, Mason EA, Horimoto AR, Loesch DP, Sarihan EI, Cornejo-Olivas MR, Torres LE, Mazzetti-Soler PE, Cosentino C, Sarapura-Castro EH, Rivera-Valdivia A, Medina AC, Dieguez EM, Raggio VE, Lescano A, Tumas V, Borges V, Ferraz HB, Rieder CR, Schumacher-Schuh A, Santos-Lobato BL, Velez-Pardo C, Jimenez-Del-Rio M, Lopera F, Moreno S, Chana-Cuevas P, Fernandez W, Arboleda G, Arboleda H, Arboleda Bustos CE, Yearout D, Lima-Costa MF, Tarazona E, Zabetian C, Thornton TA, O'Connor TD, Mata IF. Leal TP, et al. medRxiv [Preprint]. 2023 Feb 2:2023.01.31.23285199. doi: 10.1101/2023.01.31.23285199. medRxiv. 2023. Update in: Mov Disord. 2023 Sep;38(9):1625-1635. doi: 10.1002/mds.29508 PMID: 36778409 Free PMC article. Updated. Preprint.
Neurogenetics in Peru: clinical, scientific and ethical perspectives.
Cornejo-Olivas M, Espinoza-Huertas K, Velit-Salazar MR, Veliz-Otani D, Tirado-Hurtado I, Inca-Martinez M, Silva-Paredes G, Milla-Neyra K, Marca V, Ortega O, Mazzetti P. Cornejo-Olivas M, et al. J Community Genet. 2015 Jul;6(3):251-7. doi: 10.1007/s12687-015-0239-z. Epub 2015 May 27. J Community Genet. 2015. PMID: 26013639 Free PMC article.
81 results