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Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.
Maggiolini FAM, Cantsilieris S, D'Addabbo P, Manganelli M, Coe BP, Dumont BL, Sanders AD, Pang AWC, Vollger MR, Palumbo O, Palumbo P, Accadia M, Carella M, Eichler EE, Antonacci F. Maggiolini FAM, et al. Among authors: accadia m. PLoS Genet. 2019 Mar 27;15(3):e1008075. doi: 10.1371/journal.pgen.1008075. eCollection 2019 Mar. PLoS Genet. 2019. PMID: 30917130 Free PMC article.
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.
Pignata L, Cecere F, Verma A, Hay Mele B, Monticelli M, Acurzio B, Giaccari C, Sparago A, Hernandez Mora JR, Monteagudo-Sánchez A, Esteller M, Pereda A, Tenorio-Castano J, Palumbo O, Carella M, Prontera P, Piscopo C, Accadia M, Lapunzina P, Cubellis MV, de Nanclares GP, Monk D, Riccio A, Cerrato F. Pignata L, et al. Among authors: accadia m. Clin Epigenetics. 2022 May 28;14(1):71. doi: 10.1186/s13148-022-01292-w. Clin Epigenetics. 2022. PMID: 35643636 Free PMC article.
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.
Squeo GM, Augello B, Massa V, Milani D, Colombo EA, Mazza T, Castellana S, Piccione M, Maitz S, Petracca A, Prontera P, Accadia M, Della Monica M, Di Giacomo MC, Melis D, Selicorni A, Giglio S, Fischetto R, Di Fede E, Malerba N, Russo M, Castori M, Gervasini C, Merla G. Squeo GM, et al. Among authors: accadia m. J Med Genet. 2020 Nov;57(11):760-768. doi: 10.1136/jmedgenet-2019-106724. Epub 2020 Mar 13. J Med Genet. 2020. PMID: 32170002
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
Mussa A, Leoni C, Iacoviello M, Carli D, Ranieri C, Pantaleo A, Buonuomo PS, Bagnulo R, Ferrero GB, Bartuli A, Melis D, Maitz S, Loconte DC, Turchiano A, Piglionica M, De Luisi A, Susca FC, Bukvic N, Forleo C, Selicorni A, Zampino G, Onesimo R, Cappuccio G, Garavelli L, Novelli C, Memo L, Morando C, Della Monica M, Accadia M, Capurso M, Piscopo C, Cereda A, Di Giacomo MC, Saletti V, Spinelli AM, Lastella P, Tenconi R, Dvorakova V, Irvine AD, Resta N. Mussa A, et al. Among authors: accadia m. J Med Genet. 2023 Feb;60(2):163-173. doi: 10.1136/jmedgenet-2021-108093. Epub 2022 Mar 7. J Med Genet. 2023. PMID: 35256403
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies.
Kerkhof J, Squeo GM, McConkey H, Levy MA, Piemontese MR, Castori M, Accadia M, Biamino E, Della Monica M, Di Giacomo MC, Gervasini C, Maitz S, Melis D, Milani D, Piccione M, Prontera P, Selicorni A, Sadikovic B, Merla G. Kerkhof J, et al. Among authors: accadia m. Genet Med. 2022 Jan;24(1):51-60. doi: 10.1016/j.gim.2021.08.007. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906459 Free article.
51 results