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Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile.
Am J Med Genet A. 2021 Jan;185(1):242-249. doi: 10.1002/ajmg.a.61937. Epub 2020 Oct 24.
Am J Med Genet A. 2021.
PMID: 33098373
A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome.
Alesi V, Loddo S, Calì F, Orlando V, Genovese S, Ferretti D, Calacci C, Calvieri G, Falasca R, Ulgheri L, Drago F, Dallapiccola B, Baban A, Novelli A.
Alesi V, et al. Among authors: falasca r.
Am J Med Genet A. 2019 Aug;179(8):1615-1621. doi: 10.1002/ajmg.a.61217. Epub 2019 May 30.
Am J Med Genet A. 2019.
PMID: 31145527
Review.
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A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign.
Restaldi F, Alesi V, Aquilani A, Genovese S, Russo S, Coletti V, Pompili D, Falasca R, Dallapiccola B, Capolino R, Luciani M, Novelli A.
Restaldi F, et al. Among authors: falasca r.
Mol Cytogenet. 2019 Jun 14;12:26. doi: 10.1186/s13039-019-0440-6. eCollection 2019.
Mol Cytogenet. 2019.
PMID: 31223340
Free PMC article.
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Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review.
Minotti C, Graziani L, Sallicandro E, Digilio MC, Falasca R, Alesi V, Novelli G, Dentici ML, Loddo S, Novelli A.
Minotti C, et al. Among authors: falasca r.
Front Genet. 2024 Feb 6;14:1315291. doi: 10.3389/fgene.2023.1315291. eCollection 2023.
Front Genet. 2024.
PMID: 38380230
Free PMC article.
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