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Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Brugger M, Lauri A, Zhen Y, Gramegna LL, Zott B, Sekulić N, Fasano G, Kopajtich R, Cordeddu V, Radio FC, Mancini C, Pizzi S, Paradisi G, Zanni G, Vasco G, Carrozzo R, Palombo F, Tonon C, Lodi R, La Morgia C, Arelin M, Blechschmidt C, Finck T, Sørensen V, Kreiser K, Strobl-Wildemann G, Daum H, Michaelson-Cohen R, Ziccardi L, Zampino G, Prokisch H, Abou Jamra R, Fiorini C, Arzberger T, Winkelmann J, Caporali L, Carelli V, Stenmark H, Tartaglia M, Wagner M. Brugger M, et al. Among authors: fasano g. Am J Hum Genet. 2024 Mar 7;111(3):594-613. doi: 10.1016/j.ajhg.2024.02.005. Epub 2024 Feb 28. Am J Hum Genet. 2024. PMID: 38423010 Free PMC article.
Psychosocial well-being during the COVID-19 pandemic among women with and without breast cancer.
Pinheiro LC, Fasano GA, An A, Mount L, Bayard S, Rosenberg S, Taiwo E, Loeb-Zeitlin S, Marti J, Ashamalla H, Balogun O, Smith M, Siegel B, Astrow A, Newman L, Malik M, Bea V, Tamimi RM. Pinheiro LC, et al. Among authors: fasano ga. Psychooncology. 2023 Jul;32(7):1106-1113. doi: 10.1002/pon.6152. Epub 2023 May 22. Psychooncology. 2023. PMID: 37212636
73 results