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Mutations in sphingolipid metabolism genes are associated with ADHD.
Henriquez-Henriquez M, Acosta MT, Martinez AF, Vélez JI, Lopera F, Pineda D, Palacio JD, Quiroga T, Worgall TS, Deckelbaum RJ, Mastronardi C, Molina BSG; MTA Cooperative Group; Arcos-Burgos M, Muenke M. Henriquez-Henriquez M, et al. Among authors: velez ji. Transl Psychiatry. 2020 Jul 13;10(1):231. doi: 10.1038/s41398-020-00881-8. Transl Psychiatry. 2020. PMID: 32661301 Free PMC article.
Mutations in the human SIX3 gene in holoprosencephaly are loss of function.
Domené S, Roessler E, El-Jaick KB, Snir M, Brown JL, Vélez JI, Bale S, Lacbawan F, Muenke M, Feldman B. Domené S, et al. Among authors: velez ji. Hum Mol Genet. 2008 Dec 15;17(24):3919-28. doi: 10.1093/hmg/ddn294. Epub 2008 Sep 12. Hum Mol Genet. 2008. PMID: 18791198 Free PMC article.
Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly.
Roessler E, Pei W, Ouspenskaia MV, Karkera JD, Veléz JI, Banerjee-Basu S, Gibney G, Lupo PJ, Mitchell LE, Towbin JA, Bowers P, Belmont JW, Goldmuntz E, Baxevanis AD, Feldman B, Muenke M. Roessler E, et al. Among authors: velez ji. Mol Genet Metab. 2009 Sep-Oct;98(1-2):225-34. doi: 10.1016/j.ymgme.2009.05.005. Epub 2009 May 27. Mol Genet Metab. 2009. PMID: 19553149 Free PMC article.
Analysis of genotype-phenotype correlations in human holoprosencephaly.
Solomon BD, Mercier S, Vélez JI, Pineda-Alvarez DE, Wyllie A, Zhou N, Dubourg C, David V, Odent S, Roessler E, Muenke M. Solomon BD, et al. Among authors: velez ji. Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):133-41. doi: 10.1002/ajmg.c.30240. Am J Med Genet C Semin Med Genet. 2010. PMID: 20104608 Free PMC article. Review.
A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication.
Arcos-Burgos M, Jain M, Acosta MT, Shively S, Stanescu H, Wallis D, Domené S, Vélez JI, Karkera JD, Balog J, Berg K, Kleta R, Gahl WA, Roessler E, Long R, Lie J, Pineda D, Londoño AC, Palacio JD, Arbelaez A, Lopera F, Elia J, Hakonarson H, Johansson S, Knappskog PM, Haavik J, Ribases M, Cormand B, Bayes M, Casas M, Ramos-Quiroga JA, Hervas A, Maher BS, Faraone SV, Seitz C, Freitag CM, Palmason H, Meyer J, Romanos M, Walitza S, Hemminger U, Warnke A, Romanos J, Renner T, Jacob C, Lesch KP, Swanson J, Vortmeyer A, Bailey-Wilson JE, Castellanos FX, Muenke M. Arcos-Burgos M, et al. Among authors: velez ji. Mol Psychiatry. 2010 Nov;15(11):1053-66. doi: 10.1038/mp.2010.6. Epub 2010 Feb 16. Mol Psychiatry. 2010. PMID: 20157310 Free article.
A cooperative interaction between LPHN3 and 11q doubles the risk for ADHD.
Jain M, Vélez JI, Acosta MT, Palacio LG, Balog J, Roessler E, Pineda D, Londoño AC, Palacio JD, Arbelaez A, Lopera F, Elia J, Hakonarson H, Seitz C, Freitag CM, Palmason H, Meyer J, Romanos M, Walitza S, Hemminger U, Warnke A, Romanos J, Renner T, Jacob C, Lesch KP, Swanson J, Castellanos FX, Bailey-Wilson JE, Arcos-Burgos M, Muenke M. Jain M, et al. Among authors: velez ji. Mol Psychiatry. 2012 Jul;17(7):741-7. doi: 10.1038/mp.2011.59. Epub 2011 May 24. Mol Psychiatry. 2012. PMID: 21606926 Free PMC article.
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.
Pooling/bootstrap-based GWAS (pbGWAS) identifies new loci modifying the age of onset in PSEN1 p.Glu280Ala Alzheimer's disease.
Vélez JI, Chandrasekharappa SC, Henao E, Martinez AF, Harper U, Jones M, Solomon BD, Lopez L, Garcia G, Aguirre-Acevedo DC, Acosta-Baena N, Correa JC, Lopera-Gómez CM, Jaramillo-Elorza MC, Rivera D, Kosik KS, Schork NJ, Swanson JM, Lopera F, Arcos-Burgos M. Vélez JI, et al. Mol Psychiatry. 2013 May;18(5):568-75. doi: 10.1038/mp.2012.81. Epub 2012 Jun 19. Mol Psychiatry. 2013. PMID: 22710270 Free PMC article.
70 results