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Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile.
Alesi V, Loddo S, Orlando V, Genovese S, Di Tommaso S, Liambo MT, Pompili D, Ferretti D, Calacci C, Catino G, Falasca R, Dentici ML, Novelli A, Digilio MC, Dallapiccola B. Alesi V, et al. Among authors: pompili d. 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
Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization.
Alesi V, Orlando V, Genovese S, Loddo S, Pisaneschi E, Pompili D, Surace C, Restaldi F, Digilio MC, Dallapiccola B, Dentici ML, Novelli A. Alesi V, et al. Among authors: pompili d. Cytogenet Genome Res. 2017;151(4):179-185. doi: 10.1159/000475490. Epub 2017 May 6. Cytogenet Genome Res. 2017. PMID: 28478456
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: pompili d. Mol Cytogenet. 2019 Jun 14;12:26. doi: 10.1186/s13039-019-0440-6. eCollection 2019. Mol Cytogenet. 2019. PMID: 31223340 Free PMC article.
Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency.
Alesi V, Genovese S, Roberti MC, Sallicandro E, Di Tommaso S, Loddo S, Orlando V, Pompili D, Calacci C, Mei V, Pisaneschi E, Faggiano MV, Morgia A, Mammì C, Astrea G, Battini R, Priolo M, Dentici ML, Milone R, Novelli A. Alesi V, et al. Among authors: pompili d. Hum Genomics. 2024 Mar 22;18(1):29. doi: 10.1186/s40246-024-00600-0. Hum Genomics. 2024. PMID: 38520002 Free PMC article.
17 results