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Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.
Provenzano A, La Barbera A, Scagnet M, Pagliazzi A, Traficante G, Pantaleo M, Tiberi L, Vergani D, Kurtas NE, Guarducci S, Bargiacchi S, Forzano G, Artuso R, Palazzo V, Kura A, Giordano F, di Feo D, Mortilla M, De Filippi C, Mattei G, Garavelli L, Giusti B, Genitori L, Zuffardi O, Giglio S. Provenzano A, et al. Among authors: pagliazzi a. Hum Genet. 2021 Apr;140(4):625-647. doi: 10.1007/s00439-020-02231-6. Epub 2020 Dec 18. Hum Genet. 2021. PMID: 33337535 Free PMC article.
Noninvasive prenatal diagnosis in a family at risk for Fraser syndrome.
Provenzano A, Palazzo V, Reho P, Pagliazzi A, Marozza A, Farina A, Zuffardi O, Giglio S. Provenzano A, et al. Among authors: pagliazzi a. Prenat Diagn. 2020 Jun;40(7):905-908. doi: 10.1002/pd.5700. Epub 2020 Apr 20. Prenat Diagn. 2020. PMID: 32277492 No abstract available.
Two-year-old girl with metabolic acidosis and hyperkalaemia.
Patti G, Palazzo V, Pagliazzi A, Confalonieri L, Di Iorgi N. Patti G, et al. Among authors: pagliazzi a. Arch Dis Child Educ Pract Ed. 2021 Feb;106(1):28-30. doi: 10.1136/archdischild-2019-318393. Epub 2020 May 28. Arch Dis Child Educ Pract Ed. 2021. PMID: 32467257
Genetic counseling during COVID-19 pandemic: Tuscany experience.
Pagliazzi A, Mancano G, Forzano G, di Giovanni F, Gori G, Traficante G, Iolascon A, Giglio S. Pagliazzi A, et al. Mol Genet Genomic Med. 2020 Oct;8(10):e1433. doi: 10.1002/mgg3.1433. Epub 2020 Aug 3. Mol Genet Genomic Med. 2020. PMID: 32743952 Free PMC article.
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.
Fallerini C, Picchiotti N, Baldassarri M, Zguro K, Daga S, Fava F, Benetti E, Amitrano S, Bruttini M, Palmieri M, Croci S, Lista M, Beligni G, Valentino F, Meloni I, Tanfoni M, Minnai F, Colombo F, Cabri E, Fratelli M, Gabbi C, Mantovani S, Frullanti E, Gori M, Crawley FP, Butler-Laporte G, Richards B, Zeberg H, Lipcsey M, Hultström M, Ludwig KU, Schulte EC, Pairo-Castineira E, Baillie JK, Schmidt A, Frithiof R; WES/WGS Working Group Within the HGI; GenOMICC Consortium; GEN-COVID Multicenter Study; Mari F, Renieri A, Furini S. Fallerini C, et al. Hum Genet. 2022 Jan;141(1):147-173. doi: 10.1007/s00439-021-02397-7. Epub 2021 Dec 10. Hum Genet. 2022. PMID: 34889978 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.
Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations.
Schuart C, Bassi A, Kapp F, Wieland I, Pagliazzi A, Losch H, Mazzatenta C, Bacci GM, Oranges T, Schanze D, Mohnike K, Nanda A, Fischer J, Zenker M, Happle R. Schuart C, et al. Among authors: pagliazzi a. Eur J Med Genet. 2022 May;65(5):104472. doi: 10.1016/j.ejmg.2022.104472. Epub 2022 Mar 26. Eur J Med Genet. 2022. PMID: 35351629
23 results