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Year Number of Results
2015 1
2016 4
2017 2
2018 3
2019 4
2020 2
2024 0

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15 results

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Page 1
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: malerba n. 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
Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication.
Zanella M, Vitriolo A, Andirko A, Martins PT, Sturm S, O'Rourke T, Laugsch M, Malerba N, Skaros A, Trattaro S, Germain PL, Mihailovic M, Merla G, Rada-Iglesias A, Boeckx C, Testa G. Zanella M, et al. Among authors: malerba n. Sci Adv. 2019 Dec 4;5(12):eaaw7908. doi: 10.1126/sciadv.aaw7908. eCollection 2019 Dec. Sci Adv. 2019. PMID: 31840056 Free PMC article.
The epileptology of GNB5 encephalopathy.
Poke G, King C, Muir A, de Valles-Ibáñez G, Germano M, Moura de Souza CF, Fung J, Chung B, Fung CW, Mignot C, Ilea A, Keren B, Vermersch AI, Davis S, Stanley T, Moharir M, Kannu P, Shao Z, Malerba N, Merla G, Mefford HC, Scheffer IE, Sadleir LG. Poke G, et al. Among authors: malerba n. Epilepsia. 2019 Nov;60(11):e121-e127. doi: 10.1111/epi.16372. Epub 2019 Oct 20. Epilepsia. 2019. PMID: 31631344
Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line.
Malerba N, Benzoni P, Squeo GM, Milanesi R, Giannetti F, Sadleir LG, Poke G, Augello B, Croce AI, Barbuti A, Merla G. Malerba N, et al. Stem Cell Res. 2019 Oct;40:101547. doi: 10.1016/j.scr.2019.101547. Epub 2019 Aug 22. Stem Cell Res. 2019. PMID: 31479876 Free article.
Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Cocciadiferro D, Augello B, De Nittis P, Zhang J, Mandriani B, Malerba N, Squeo GM, Romano A, Piccinni B, Verri T, Micale L, Pasqualucci L, Merla G. Cocciadiferro D, et al. Among authors: malerba n. Hum Mol Genet. 2018 Nov 1;27(21):3651-3668. doi: 10.1093/hmg/ddy241. Hum Mol Genet. 2018. PMID: 30107592 Free PMC article.
TRIM50 regulates Beclin 1 proautophagic activity.
Fusco C, Mandriani B, Di Rienzo M, Micale L, Malerba N, Cocciadiferro D, Sjøttem E, Augello B, Squeo GM, Pellico MT, Jain A, Johansen T, Fimia GM, Merla G. Fusco C, et al. Among authors: malerba n. Biochim Biophys Acta Mol Cell Res. 2018 Jun;1865(6):908-919. doi: 10.1016/j.bbamcr.2018.03.011. Epub 2018 Mar 29. Biochim Biophys Acta Mol Cell Res. 2018. PMID: 29604308 Free article.
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.
Lepri FR, Cocciadiferro D, Augello B, Alfieri P, Pes V, Vancini A, Caciolo C, Squeo GM, Malerba N, Adipietro I, Novelli A, Sotgiu S, Gherardi R, Digilio MC, Dallapiccola B, Merla G. Lepri FR, et al. Among authors: malerba n. Int J Mol Sci. 2017 Dec 28;19(1):82. doi: 10.3390/ijms19010082. Int J Mol Sci. 2017. PMID: 29283410 Free PMC article.
15 results