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A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders.
Ben-Mahmoud A, Jun KR, Gupta V, Shastri P, de la Fuente A, Park Y, Shin KC, Kim CA, da Cruz AD, Pinto IP, Minasi LB, Silva da Cruz A, Faivre L, Callier P, Racine C, Layman LC, Kong IK, Kim CH, Kim WY, Kim HG. Ben-Mahmoud A, et al. Among authors: pinto ip. Front Mol Neurosci. 2022 Oct 6;15:979061. doi: 10.3389/fnmol.2022.979061. eCollection 2022. Front Mol Neurosci. 2022. PMID: 36277487 Free PMC article.
A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach.
Pinto IP, Minasi LB, da Cruz AS, de Melo AV, da Cruz E Cunha DM, Pereira RR, Ribeiro CL, da Silva CC, de Melo E Silva D, da Cruz AD. Pinto IP, et al. Mol Cytogenet. 2014 Jun 27;7:44. doi: 10.1186/1755-8166-7-44. eCollection 2014. Mol Cytogenet. 2014. PMID: 25028595 Free PMC article.
16 results