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198 results

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Page 1
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.
D'Abrusco F, Serpieri V, Taccagni CM, Garau J, Cattaneo L, Boggioni M, Gana S, Battini R, Bertini E, Zanni G, Boltshauser E, Borgatti R, Romaniello R, Signorini S, Leuzzi V, Caputi C, Manti F, D'Arrigo S, De Laurentiis A, Graziano C, Lemke JR, Morelli F, Petković Ramadža D, Sirchia F, Giorgio E, Valente EM. D'Abrusco F, et al. Among authors: giorgio e. Eur J Hum Genet. 2025 Jan;33(1):72-79. doi: 10.1038/s41431-024-01703-x. Epub 2024 Oct 11. Eur J Hum Genet. 2025. PMID: 39394465 Free PMC article.
The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
Thorpe E, Williams T, Shaw C, Chekalin E, Ortega J, Robinson K, Button J, Jones MC, Campo MD, Basel D, McCarrier J, Keppen LD, Royer E, Foster-Bonds R, Duenas-Roque MM, Urraca N, Bosfield K, Brown CW, Lydigsen H, Mroczkowski HJ, Ward J, Sirchia F, Giorgio E, Vaux K, Salguero HP, Lumaka A, Mubungu G, Makay P, Ngole M, Lukusa PT, Vanderver A, Muirhead K, Sherbini O, Lah MD, Anderson K, Bazalar-Montoya J, Rodriguez RS, Cornejo-Olivas M, Milla-Neyra K, Shinawi M, Magoulas P, Henry D, Gibson K, Wiafe S, Jayakar P, Salyakina D, Masser-Frye D, Serize A, Perez JE, Taylor A, Shenbagam S, Abou Tayoun A, Malhotra A, Bennett M, Rajan V, Avecilla J, Warren A, Arseneault M, Kalista T, Crawford A, Ajay SS, Perry DL, Belmont J, Taft RJ. Thorpe E, et al. Among authors: giorgio e. Am J Hum Genet. 2024 Jul 11;111(7):1271-1281. doi: 10.1016/j.ajhg.2024.05.006. Epub 2024 Jun 5. Am J Hum Genet. 2024. PMID: 38843839 Free PMC article.
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease.
David C, Badonyi M, Kechiche R, Insalaco A, Zecca M, De Benedetti F, Orcesi S, Chiapparini L, Comoli P, Federici S, Gattorno M, Ginevrino M, Giorgio E, Matteo V, Moran-Alvarez P, Politano D, Prencipe G, Sirchia F, Volpi S, Masson C, Rice GI, Frémond ML, Lepelley A, Marsh JA, Crow YJ. David C, et al. Among authors: giorgio e. J Clin Immunol. 2024 Feb 7;44(2):60. doi: 10.1007/s10875-024-01660-6. J Clin Immunol. 2024. PMID: 38324161 Free PMC article.
Lamin B1 as a key modulator of the developing and aging brain.
Koufi FD, Neri I, Ramazzotti G, Rusciano I, Mongiorgi S, Marvi MV, Fazio A, Shin M, Kosodo Y, Cani I, Giorgio E, Cortelli P, Manzoli L, Ratti S. Koufi FD, et al. Among authors: giorgio e. Front Cell Neurosci. 2023 Aug 31;17:1263310. doi: 10.3389/fncel.2023.1263310. eCollection 2023. Front Cell Neurosci. 2023. PMID: 37720548 Free PMC article. Review.
RNA therapeutics for neurological diseases.
Brentari I, Zadorozhna M, Denti MA, Giorgio E. Brentari I, et al. Among authors: giorgio e. Br Med Bull. 2023 Sep 12;147(1):50-61. doi: 10.1093/bmb/ldad010. Br Med Bull. 2023. PMID: 37210633 Review.
The central role of creatine and polyamines in fetal growth restriction.
Di Giorgio E, Xodo S, Orsaria M, Mariuzzi L, Picco R, Tolotto V, Cortolezzis Y, D'Este F, Grandi N, Driul L, Londero A, Xodo LE. Di Giorgio E, et al. FASEB J. 2024 Dec 15;38(23):e70222. doi: 10.1096/fj.202401946R. FASEB J. 2024. PMID: 39614665 Free PMC article.
Ferroptosis and oral squamous cell carcinoma: connecting the dots to move forward.
Antonelli A, Battaglia AM, Sacco A, Petriaggi L, Giorgio E, Barone S, Biamonte F, Giudice A. Antonelli A, et al. Among authors: giorgio e. Front Oral Health. 2024 Sep 4;5:1461022. doi: 10.3389/froh.2024.1461022. eCollection 2024. Front Oral Health. 2024. PMID: 39296524 Free PMC article. Review.
T-regulatory cells require Sin3a for stable expression of Foxp3.
Christensen LM, Akimova T, Wang L, Han R, Samanta A, Di Giorgio E, Hancock WW. Christensen LM, et al. Among authors: di giorgio e. Front Immunol. 2024 Aug 2;15:1444937. doi: 10.3389/fimmu.2024.1444937. eCollection 2024. Front Immunol. 2024. PMID: 39156895 Free PMC article.
198 results