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Page 1
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Bazalar-Montoya J, Cornejo-Olivas M, Duenas-Roque MM, Purizaca-Rosillo N, Rodriguez RS, Milla-Neyra K, De La Torre-Hernandez CA, Sarapura-Castro E, Galarreta Aima CI, Manassero-Morales G, Chávez-Pasco G, Celis-García L, La Serna-Infantes JE; Illumina Laboratory Services Bioinformatics, Software, Interpretation and Customer Support; Chekalin E, Thorpe E, Taft RJ. Bazalar-Montoya J, et al. Among authors: cornejo olivas m. NPJ Genom Med. 2024 Oct 28;9(1):51. doi: 10.1038/s41525-024-00434-8. NPJ Genom Med. 2024. PMID: 39468051 Free PMC article.
Methylation Clocks Do Not Predict Age or Alzheimer's Disease Risk Across Genetically Admixed Individuals.
Cruz-González S, Gu E, Gomez L, Mews M, Vance JM, Cuccaro ML, Cornejo-Olivas MR, Feliciano-Astacio BE, Byrd GS, Haines JL, Pericak-Vance MA, Griswold AJ, Bush WS, Capra JA. Cruz-González S, et al. Among authors: cornejo olivas mr. bioRxiv [Preprint]. 2024 Oct 18:2024.10.16.618588. doi: 10.1101/2024.10.16.618588. bioRxiv. 2024. PMID: 39464059 Free PMC article. Preprint.
The GENESIS database and tools: A decade of discovery in Mendelian genomics.
Danzi MC, Powell E, Rebelo AP, Dohrn MF, Beijer D, Fazal S, Xu IRL, Medina J, Chen S, Arcia de Jesus Y, Schatzman J, Hershberger RE, Saporta M, Baets J, Falk M, Herrmann DN, Scherer SS, Reilly MM, Cortese A, Marques W, Cornejo-Olivas MR, Sanmaneechai O, Kennerson ML, Jordanova A, Silva TYT, Pedroso JL, Schierbaum L, Ebrahimi-Fakhari D, Peric S, Lee YC, Synofzik M, Tekin M, Ravenscroft G, Shy M, Basak N, Schule R, Zuchner S. Danzi MC, et al. Among authors: cornejo olivas mr. Exp Neurol. 2024 Dec;382:114978. doi: 10.1016/j.expneurol.2024.114978. Epub 2024 Sep 30. Exp Neurol. 2024. PMID: 39357594 Review.
The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy.
Weber JJ, Czisch L, Pereira Sena P, Fath F, Huridou C, Schwarz N, Incebacak Eltemur RD, Würth A, Weishäupl D, Döcker M, Blumenstock G, Martins S, Sequeiros J, Rouleau GA, Jardim LB, Saraiva-Pereira ML, França MC Jr, Gordon CR, Zaltzman R, Cornejo-Olivas MR, van de Warrenburg BPC, Durr A, Brice A, Bauer P, Klockgether T, Schöls L, Riess O; EUROSCA Network; Schmidt T. Weber JJ, et al. Among authors: cornejo olivas mr. Acta Neuropathol. 2024 Aug 1;148(1):14. doi: 10.1007/s00401-024-02762-6. Acta Neuropathol. 2024. PMID: 39088078 Free PMC article.
Parkinson's Disease Gene Screening in Familial Cases from Central and South America.
Lorenzo-Betancor O, Mehta S, Ramchandra J, Mumuney S, Schumacher-Schuh AF, Cornejo-Olivas M, Sarapura-Castro EH, Torres L, Inca-Martinez MA, Mazzetti P, Cosentino C, Micheli F, Tumas V, Dieguez E, Raggio V, Borges V, Ferraz HB, Chana-Cuevas P, Jimenez-Del-Rio M, Velez-Pardo C, Moreno S, Lopera F, Orozco-Velez JL, Muñoz-Ospina B, Rieder CRM, Medina-Escobar A, Yearout D, Zabetian CP, Mata IF; Latin American Research Consortium on the Genetics of PD (LARGE‐PD). Lorenzo-Betancor O, et al. Among authors: cornejo olivas m. Mov Disord. 2024 Oct;39(10):1843-1855. doi: 10.1002/mds.29931. Epub 2024 Jul 25. Mov Disord. 2024. PMID: 39051491
Research Priorities on the Role of α-Synuclein in Parkinson's Disease Pathogenesis.
Burré J, Edwards RH, Halliday G, Lang AE, Lashuel HA, Melki R, Murayama S, Outeiro TF, Papa SM, Stefanis L, Woerman AL, Surmeier DJ, Kalia LV, Takahashi R; MDS Scientific Issues Committee. Burré J, et al. Mov Disord. 2024 Oct;39(10):1663-1678. doi: 10.1002/mds.29897. Epub 2024 Jun 30. Mov Disord. 2024. PMID: 38946200 Review.
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.
Advancements in dementia research, diagnostics, and care in Latin America: Highlights from the 2023 Alzheimer's Association International conference satellite symposium in Mexico City.
Sosa AL, Brucki SM, Crivelli L, Lopera FJ, Acosta DM, Acosta-Uribe J, Aguilar D, Aguilar-Navarro SG, Allegri RF, Bertolucci PH, Calandri IL, Carrillo MC, Mendez PAC, Cornejo-Olivas M, Custodio N, Damian A, de Souza LC, Duran-Aniotz C, García AM, García-Peña C, Gonzales MM, Grinberg LT, Ibanez AM, Illanes-Manrique MZ, Jack CR Jr, Leon-Salas JM, Llibre-Guerra JJ, Luna-Muñoz J, Matallana D, Miller BL, Naci L, Parra MA, Pericak-Vance M, Piña-Escudero SD, França Resende EP, Ringman JM, Sevlever G, Slachevsky A, Suemoto CK, Valcour V, Villegas-Lanau A, Yassuda MS, Mahinrad S, Sexton C. Sosa AL, et al. Among authors: cornejo olivas m. Alzheimers Dement. 2024 Jul;20(7):5009-5026. doi: 10.1002/alz.13850. Epub 2024 May 27. Alzheimers Dement. 2024. PMID: 38801124 Free PMC article. Review.
Generalizability of Tau and Amyloid Plasma Biomarkers in Alzheimer's Disease Cohorts of Diverse Genetic Ancestries.
Griswold AJ, Rajabli F, Gu T, Arvizu J, Golightly CG, Whitehead PL, Hamilton-Nelson KL, Adams LD, Sanchez JJ, Mena PR, Starks TD, Illanes-Manrique M, Silva C, Bush WS, Cuccaro ML, Vance JM, Cornejo-Olivas MR, Feliciano-Astacio BE, Byrd GS, Beecham GW, Haines JL, Pericak-Vance MA. Griswold AJ, et al. Among authors: cornejo olivas mr. medRxiv [Preprint]. 2024 Apr 12:2024.04.10.24305617. doi: 10.1101/2024.04.10.24305617. medRxiv. 2024. PMID: 38645114 Free PMC article. Preprint.
78 results