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Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Reurink J, Weisschuh N, Garanto A, Dockery A, van den Born LI, Fajardy I, Haer-Wigman L, Kohl S, Wissinger B, Farrar GJ, Ben-Yosef T, Pfiffner FK, Berger W, Weener ME, Dudakova L, Liskova P, Sharon D, Salameh M, Offenheim A, Heon E, Girotto G, Gasparini P, Morgan A, Bergen AA, Ten Brink JB, Klaver CCW, Tranebjærg L, Rendtorff ND, Vermeer S, Smits JJ, Pennings RJE, Aben M, Oostrik J, Astuti GDN, Corominas Galbany J, Kroes HY, Phan M, van Zelst-Stams WAG, Thiadens AAHJ, Verheij JBGM, van Schooneveld MJ, de Bruijn SE, Li CHZ, Hoyng CB, Gilissen C, Vissers LELM, Cremers FPM, Kremer H, van Wijk E, Roosing S. Reurink J, et al. Among authors: gasparini p. HGG Adv. 2023 Jan 18;4(2):100181. doi: 10.1016/j.xhgg.2023.100181. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 36785559 Free PMC article.
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment.
Jonard L, Brotto D, Moreno-Pelayo MA, Del Castillo I, Kremer H, Pennings R, Caria H, Fialho G, Boudewyns A, Van Camp G, Ołdak M, Oziębło D, Deggouj N, De Siati RD, Gasparini P, Girotto G, Verstreken M, Dossena S, Roesch S, Battelino S, Trebušak Podkrajšek K, Warnecke A, Lenarz T, Lesinski-Schiedat A, Mondain M, Roux AF, Denoyelle F, Loundon N, Serey Gaut M, Trevisi P, Rubinato E, Martini A, Marlin S. Jonard L, et al. Among authors: gasparini p. Audiol Res. 2023 May 10;13(3):341-346. doi: 10.3390/audiolres13030029. Audiol Res. 2023. PMID: 37218840 Free PMC article.
Impact of cultural and genetic structure on food choices along the Silk Road.
Aneli S, Mezzavilla M, Bortolini E, Pirastu N, Girotto G, Spedicati B, Berchialla P, Gasparini P, Pagani L. Aneli S, et al. Among authors: gasparini p. Proc Natl Acad Sci U S A. 2022 Nov 22;119(47):e2209311119. doi: 10.1073/pnas.2209311119. Epub 2022 Nov 14. Proc Natl Acad Sci U S A. 2022. PMID: 36375050 Free PMC article.
Prognostic Prediction of Genotype vs Phenotype in Genetic Cardiomyopathies.
Paldino A, Dal Ferro M, Stolfo D, Gandin I, Medo K, Graw S, Gigli M, Gagno G, Zaffalon D, Castrichini M, Masè M, Cannatà A, Brun F, Storm G, Severini GM, Lenarduzzi S, Girotto G, Gasparini P, Bortolotti F, Giacca M, Zacchigna S, Merlo M, Taylor MRG, Mestroni L, Sinagra G. Paldino A, et al. Among authors: gasparini p. J Am Coll Cardiol. 2022 Nov 22;80(21):1981-1994. doi: 10.1016/j.jacc.2022.08.804. J Am Coll Cardiol. 2022. PMID: 36396199 Free PMC article.
[The Regional Registry of Sudden Cardiac Death of Friuli Venezia Giulia. Protocols, best practices and results of a multidisciplinary project].
D'Errico S, Bergamini PR, Fattorini P, Zanconati F, Bussani R, Cova MA, Pagnan L, Belgrano M, Gasparini P, Girotto G, Lenarduzzi S, Addobbati R, Rakar S, Aleksova A, Dal Ferro M, Zecchin M, Sinagra G. D'Errico S, et al. Among authors: gasparini p. G Ital Cardiol (Rome). 2022 Nov;23(11):827-835. doi: 10.1714/3900.38822. G Ital Cardiol (Rome). 2022. PMID: 36300386 Italian.
Genetic Risk Score for Intracranial Aneurysms: Prediction of Subarachnoid Hemorrhage and Role in Clinical Heterogeneity.
Bakker MK, Kanning JP, Abraham G, Martinsen AE, Winsvold BS, Zwart JA, Bourcier R, Sawada T, Koido M, Kamatani Y, Morel S, Amouyel P, Debette S, Bijlenga P, Berrandou T, Ganesh SK, Bouatia-Naji N, Jones G, Bown M, Rinkel GJE, Veldink JH, Ruigrok YM; HUNT All-In Stroke, CADISP group, International Consortium for Blood Pressure, International Headache Genetics Consortium, International Stroke Genetics Consortium (ISGC) Intracranial Aneurysm Working Group. Bakker MK, et al. Stroke. 2023 Mar;54(3):810-818. doi: 10.1161/STROKEAHA.122.040715. Epub 2023 Jan 19. Stroke. 2023. PMID: 36655558 Free PMC article.
Genome-wide association studies of response and side effects to the BNT162b2 vaccine in Italian healthcare workers: Increased antibody levels and side effects in carriers of the HLA-A*03:01 allele.
Magri C, Marchina E, Sansone E, D'Adamo AP, Cappellani S, Bonfanti C, Terlenghi L, Biasiotto G, Zanella I, Sala E, Caruso A, Lombardo M, Gasparini P, De Palma G, Gennarelli M. Magri C, et al. Among authors: gasparini p. HLA. 2023 Dec;102(6):707-719. doi: 10.1111/tan.15157. Epub 2023 Jul 19. HLA. 2023. PMID: 37469131
Treatment at relapse for synovial sarcoma of children and adolescents: A multi-institutional European retrospective analysis.
Ferrari A, Orbach D, Bergamaschi L, Schoot RA, van Noesel MM, Di Carlo D, Bisogno G, Alaggio R, Milano GM, Chiaravalli S, Fuccillo F, Laurence V, Corradini N, Gasparini P, Vennarini S, Pasquali S, Casanova M. Ferrari A, et al. Among authors: gasparini p. Pediatr Blood Cancer. 2024 Apr 28:e31038. doi: 10.1002/pbc.31038. Online ahead of print. Pediatr Blood Cancer. 2024. PMID: 38679840
606 results