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Ataxia with Ocular Apraxia Type 1 (AOA1) (APTX, W279* Mutation): Neurological, Neuropsychological, and Molecular Outlining of a Heterogenous Phenotype in Four Colombian Siblings.
Aguillon D, Vasquez D, Madrigal L, Moreno S, Hernández D, Isaza-Ruget M, Lopez JJ, Landires I, Nuñez-Samudio V, Restrepo CM, Vidal OM, Vélez JI, Arcos-Holzinger M, Lopera F, Arcos-Burgos M. Aguillon D, et al. Among authors: velez ji. Mol Neurobiol. 2022 Jun;59(6):3845-3858. doi: 10.1007/s12035-022-02821-7. Epub 2022 Apr 14. Mol Neurobiol. 2022. PMID: 35420381
Potential cognitive endophenotypes in multigenerational families: segregating ADHD from a genetic isolate.
Pineda DA, Lopera F, Puerta IC, Trujillo-Orrego N, Aguirre-Acevedo DC, Hincapié-Henao L, Arango CP, Acosta MT, Holzinger SI, Palacio JD, Pineda-Alvarez DE, Velez JI, Martinez AF, Lewis JE, Muenke M, Arcos-Burgos M. Pineda DA, et al. Among authors: velez ji. Atten Defic Hyperact Disord. 2011 Sep;3(3):291-9. doi: 10.1007/s12402-011-0061-3. Epub 2011 Jul 16. Atten Defic Hyperact Disord. 2011. PMID: 21779842 Free PMC article.
GWAS reveals new recessive loci associated with non-syndromic facial clefting.
Camargo M, Rivera D, Moreno L, Lidral AC, Harper U, Jones M, Solomon BD, Roessler E, Vélez JI, Martinez AF, Chandrasekharappa SC, Arcos-Burgos M. Camargo M, et al. Among authors: velez ji. Eur J Med Genet. 2012 Oct;55(10):510-4. doi: 10.1016/j.ejmg.2012.06.005. Epub 2012 Jun 27. Eur J Med Genet. 2012. PMID: 22750566 Free PMC article.
Linkage and association analysis of ADHD endophenotypes in extended and multigenerational pedigrees from a genetic isolate.
Mastronardi CA, Pillai E, Pineda DA, Martinez AF, Lopera F, Velez JI, Palacio JD, Patel H, Easteal S, Acosta MT, Castellanos FX, Muenke M, Arcos-Burgos M. Mastronardi CA, et al. Among authors: velez ji. Mol Psychiatry. 2016 Oct;21(10):1434-40. doi: 10.1038/mp.2015.172. Epub 2015 Nov 24. Mol Psychiatry. 2016. PMID: 26598068 Free PMC article.
APOE*E2 allele delays age of onset in PSEN1 E280A Alzheimer's disease.
Vélez JI, Lopera F, Sepulveda-Falla D, Patel HR, Johar AS, Chuah A, Tobón C, Rivera D, Villegas A, Cai Y, Peng K, Arkell R, Castellanos FX, Andrews SJ, Silva Lara MF, Creagh PK, Easteal S, de Leon J, Wong ML, Licinio J, Mastronardi CA, Arcos-Burgos M. Vélez JI, et al. Mol Psychiatry. 2016 Jul;21(7):916-24. doi: 10.1038/mp.2015.177. Epub 2015 Dec 1. Mol Psychiatry. 2016. PMID: 26619808 Free PMC article.
Definition of mutations in polyautoimmunity.
Johar A, Sarmiento-Monroy JC, Rojas-Villarraga A, Silva-Lara MF, Patel HR, Mantilla RD, Velez JI, Schulte KM, Mastronardi C, Arcos-Burgos M, Anaya JM. Johar A, et al. Among authors: velez ji. J Autoimmun. 2016 Aug;72:65-72. doi: 10.1016/j.jaut.2016.05.003. Epub 2016 May 18. J Autoimmun. 2016. PMID: 27209085
Mutations modifying sporadic Alzheimer's disease age of onset.
Vélez JI, Lopera F, Patel HR, Johar AS, Cai Y, Rivera D, Tobón C, Villegas A, Sepulveda-Falla D, Lehmann SG, Easteal S, Mastronardi CA, Arcos-Burgos M. Vélez JI, et al. Am J Med Genet B Neuropsychiatr Genet. 2016 Dec;171(8):1116-1130. doi: 10.1002/ajmg.b.32493. Epub 2016 Aug 30. Am J Med Genet B Neuropsychiatr Genet. 2016. PMID: 27573710
72 results