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Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Levy MA, McConkey H, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Bralo MP, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, Fee T, Fletcher RS, Cherik F, Foroutan A, Friez MJ, Gervasini C, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Østergaard E, Pallares NR, Piccione M, Pizzi S, Plomp AS, Poulton C, Reilly J, Relator R, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, St John M, Thauvin-Robinet C, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci T, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Kerrnohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Vitobello A, Tartaglia M, Alders M, Tedder ML, Sadikovic B. Levy MA, et al. Among authors: squeo gm. HGG Adv. 2021 Dec 3;3(1):100075. doi: 10.1016/j.xhgg.2021.100075. eCollection 2022 Jan 13. HGG Adv. 2021. PMID: 35047860 Free PMC article.
An explainable model of host genetic interactions linked to COVID-19 severity.
Onoja A, Picchiotti N, Fallerini C, Baldassarri M, Fava F; GEN-COVID Multicenter Study; Colombo F, Chiaromonte F, Renieri A, Furini S, Raimondi F. Onoja A, et al. Commun Biol. 2022 Oct 26;5(1):1133. doi: 10.1038/s42003-022-04073-6. Commun Biol. 2022. PMID: 36289370 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. 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
DNA Methylation in the Diagnosis of Monogenic Diseases.
Cerrato F, Sparago A, Ariani F, Brugnoletti F, Calzari L, Coppedè F, De Luca A, Gervasini C, Giardina E, Gurrieri F, Lo Nigro C, Merla G, Miozzo M, Russo S, Sangiorgi E, Sirchia SM, Squeo GM, Tabano S, Tabolacci E, Torrente I, Genuardi M, Neri G, Riccio A. Cerrato F, et al. Among authors: squeo gm. Genes (Basel). 2020 Mar 26;11(4):355. doi: 10.3390/genes11040355. Genes (Basel). 2020. PMID: 32224912 Free PMC article. Review.
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes.
Di Fede E, Massa V, Augello B, Squeo G, Scarano E, Perri AM, Fischetto R, Causio FA, Zampino G, Piccione M, Curridori E, Mazza T, Castellana S, Larizza L, Ghelma F, Colombo EA, Gandini MC, Castori M, Merla G, Milani D, Gervasini C. Di Fede E, et al. Eur J Hum Genet. 2021 Jan;29(1):88-98. doi: 10.1038/s41431-020-0679-8. Epub 2020 Jul 8. Eur J Hum Genet. 2021. PMID: 32641752 Free PMC article.
Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome.
Rooney K, Levy MA, Haghshenas S, Kerkhof J, Rogaia D, Tedesco MG, Imperatore V, Mencarelli A, Squeo GM, Di Venere E, Di Cara G, Verrotti A, Merla G, Tedder ML, DuPont BR, Sadikovic B, Prontera P. Rooney K, et al. Among authors: squeo gm. Int J Mol Sci. 2021 Aug 10;22(16):8611. doi: 10.3390/ijms22168611. Int J Mol Sci. 2021. PMID: 34445317 Free PMC article.
39 results