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Page 1
Olfactory receptor genes and chromosome 11 structural aberrations: Players or spectators?
Redaelli S, Grati FR, Tritto V, Giannuzzi G, Recalcati MP, Sala E, Villa N, Crosti F, Roversi G, Malvestiti F, Zanatta V, Repetti E, Rodeschini O, Valtorta C, Catusi I, Romitti L, Martinoli E, Conconi D, Dalprà L, Lavitrano M, Riva P, Bentivegna A. Redaelli S, et al. Among authors: giannuzzi g. HGG Adv. 2024 Apr 11;5(2):100261. doi: 10.1016/j.xhgg.2023.100261. Epub 2023 Dec 30. HGG Adv. 2024. PMID: 38160254 Free PMC article.
Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.
Giannuzzi G, Chatron N, Mannik K, Auwerx C, Pradervand S, Willemin G, Hoekzema K, Nuttle X, Chrast J, Sadler MC, Porcu E; 16p11.2 Consortium; Herault Y, Isidor B, Gilbert-Dussardier B, Eichler EE, Kutalik Z, Reymond A. Giannuzzi G, et al. NPJ Genom Med. 2023 May 24;8(1):9. doi: 10.1038/s41525-023-00354-z. NPJ Genom Med. 2023. PMID: 37225732 Free PMC article. No abstract available.
Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.
Giannuzzi G, Chatron N, Mannik K, Auwerx C, Pradervand S, Willemin G, Hoekzema K, Nuttle X, Chrast J, Sadler MC, Porcu E; 16p11.2 Consortium; Herault Y, Isidor B, Gilbert-Dussardier B, Eichler EE, Kutalik Z, Reymond A. Giannuzzi G, et al. NPJ Genom Med. 2022 Jun 17;7(1):38. doi: 10.1038/s41525-022-00308-x. NPJ Genom Med. 2022. PMID: 35715439 Free PMC article.
Alpha Satellite Insertion Close to an Ancestral Centromeric Region.
Giannuzzi G, Logsdon GA, Chatron N, Miller DE, Reversat J, Munson KM, Hoekzema K, Bonnet-Dupeyron MN, Rollat-Farnier PA, Baker CA, Sanlaville D, Eichler EE, Schluth-Bolard C, Reymond A. Giannuzzi G, et al. Mol Biol Evol. 2021 Dec 9;38(12):5576-5587. doi: 10.1093/molbev/msab244. Mol Biol Evol. 2021. PMID: 34464971 Free PMC article.
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.
Bassani S, van Beelen E, Rossel M, Voisin N, Morgan A, Arribat Y, Chatron N, Chrast J, Cocca M, Delprat B, Faletra F, Giannuzzi G, Guex N, Machavoine R, Pradervand S, Smits JJ, van de Kamp JM, Ziegler A, Amati F, Marlin S, Kremer H, Locher H, Maurice T, Gasparini P, Girotto G, Reymond A. Bassani S, et al. Among authors: giannuzzi g. Hum Mol Genet. 2021 Sep 15;30(19):1785-1796. doi: 10.1093/hmg/ddab145. Hum Mol Genet. 2021. PMID: 34059922
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hančárová M, Amor DJ, Bebin EM, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper GM, Courtin T, Dadali E, Delafontaine J, Del Giudice E, Doco M, Douglas G, Eisenkölbl A, Funari T, Giannuzzi G, Gruber-Sedlmayr U, Guex N, Heron D, Holla ØL, Hurst ACE, Juusola J, Kronn D, Lavrov A, Lee C, Lorrain S, Merckoll E, Mikhaleva A, Norman J, Pradervand S, Prchalová D, Rhodes L, Sanders VR, Sedláček Z, Seebacher HA, Sellars EA, Sirchia F, Takenouchi T, Tanaka AJ, Taska-Tench H, Tønne E, Tveten K, Vitiello G, Vlčková M, Uehara T, Nava C, Yalcin B, Kosaki K, Donnai D, Mundlos S, Brunetti-Pierri N, Chung WK, Reymond A. Voisin N, et al. Among authors: giannuzzi g. Am J Hum Genet. 2021 May 6;108(5):857-873. doi: 10.1016/j.ajhg.2021.04.001. Am J Hum Genet. 2021. PMID: 33961779 Free PMC article.
Evolutionary Dynamics of the POTE Gene Family in Human and Nonhuman Primates.
Maggiolini FAM, Mercuri L, Antonacci F, Anaclerio F, Calabrese FM, Lorusso N, L'Abbate A, Sorensen M, Giannuzzi G, Eichler EE, Catacchio CR, Ventura M. Maggiolini FAM, et al. Among authors: giannuzzi g. Genes (Basel). 2020 Feb 18;11(2):213. doi: 10.3390/genes11020213. Genes (Basel). 2020. PMID: 32085667 Free PMC article.
35 results