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Year Number of Results
2017 2
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2020 2
2021 2
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2024 3

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Page 1
Resources and tools for rare disease variant interpretation.
Licata L, Via A, Turina P, Babbi G, Benevenuta S, Carta C, Casadio R, Cicconardi A, Facchiano A, Fariselli P, Giordano D, Isidori F, Marabotti A, Martelli PL, Pascarella S, Pinelli M, Pippucci T, Russo R, Savojardo C, Scafuri B, Valeriani L, Capriotti E. Licata L, et al. Among authors: isidori f. Front Mol Biosci. 2023 May 10;10:1169109. doi: 10.3389/fmolb.2023.1169109. eCollection 2023. Front Mol Biosci. 2023. PMID: 37234922 Free PMC article. Review.
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N, Mingardo E, Lopes FM, Ho YM, Grote P, Lindenberg TT, Yilmaz Ö, Channab K, Seltzsam S, Shril S, Hildebrandt F, Boschann F, Heinen A, Jolly A, Myers K, McBride K, Bekheirnia MR, Bekheirnia N, Scala M, Morleo M, Nigro V, Torella A; TUDP consortium; Pinelli M, Capra V, Accogli A, Maitz S, Spano A, Olson RJ, Klee EW, Lanpher BC, Jang SS, Chae JH, Steinbauer P, Rieder D, Janecke AR, Vodopiutz J, Vogel I, Blechingberg J, Cohen JL, Riley K, Klee V, Walsh LE, Begemann M, Elbracht M, Eggermann T, Stoppe A, Stuurman K, van Slegtenhorst M, Barakat TS, Mulhern MS, Sands TT, Cytrynbaum C, Weksberg R, Isidori F, Pippucci T, Severi G, Montanari F, Kruer MC, Bakhtiari S, Darvish H, Reutter H, Hagelueken G, Geyer M, Woolf AS, Posey JE, Lupski JR, Odermatt B, Hilger AC. Stegmann JD, et al. Among authors: isidori f. NPJ Genom Med. 2024 Mar 1;9(1):18. doi: 10.1038/s41525-024-00398-9. NPJ Genom Med. 2024. PMID: 38429302 Free PMC article.
miRNA-221 and miRNA-483-3p Dysregulation in Esophageal Adenocarcinoma.
Bozzarelli I, Orsini A, Isidori F, Mastracci L, Malvi D, Lugaresi M, Fittipaldi S, Gozzellino L, Astolfi A, Räsänen J, D'Errico A, Rosati R, Fiocca R, Seri M, Krishnadath KK, Bonora E, Mattioli S. Bozzarelli I, et al. Among authors: isidori f. Cancers (Basel). 2024 Jan 30;16(3):591. doi: 10.3390/cancers16030591. Cancers (Basel). 2024. PMID: 38339342 Free PMC article.
Correlations between Molecular Alterations, Histopathological Characteristics, and Poor Prognosis in Esophageal Adenocarcinoma.
Orsini A, Mastracci L, Bozzarelli I, Ferrari A, Isidori F, Fiocca R, Lugaresi M, D'Errico A, Malvi D, Cataldi-Stagetti E, Spaggiari P, Tomezzoli A, Albarello L, Ristimäki A, Bottiglieri L, Krishnadath KK, Rosati R, Fumagalli Romario U, De Manzoni G, Räsänen J, Martinelli G, Mattioli S, Bonora E, On Behalf Of The Eacsge Consortium. Orsini A, et al. Among authors: isidori f. Cancers (Basel). 2023 Feb 23;15(5):1408. doi: 10.3390/cancers15051408. Cancers (Basel). 2023. PMID: 36900206 Free PMC article.
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R. Bonora E, et al. Among authors: isidori f. Brain. 2021 Jun 22;144(5):1451-1466. doi: 10.1093/brain/awab056. Brain. 2021. PMID: 33855352 Free article.
RASAL1 and ROS1 Gene Variants in Hereditary Breast Cancer.
Isidori F, Bozzarelli I, Ferrari S, Godino L, Innella G, Turchetti D, Bonora E. Isidori F, et al. Cancers (Basel). 2020 Sep 7;12(9):2539. doi: 10.3390/cancers12092539. Cancers (Basel). 2020. PMID: 32906649 Free PMC article.
Mutant MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancer.
Diquigiovanni C, Bergamini C, Evangelisti C, Isidori F, Vettori A, Tiso N, Argenton F, Costanzini A, Iommarini L, Anbunathan H, Pagotto U, Repaci A, Babbi G, Casadio R, Lenaz G, Rhoden KJ, Porcelli AM, Fato R, Bowcock A, Seri M, Romeo G, Bonora E. Diquigiovanni C, et al. Among authors: isidori f. Int J Cancer. 2018 Oct 1;143(7):1706-1719. doi: 10.1002/ijc.31548. Epub 2018 May 7. Int J Cancer. 2018. PMID: 29672841 Free article.
Targeted Sequencing of Sorted Esophageal Adenocarcinoma Cells Unveils Known and Novel Mutations in the Separated Subpopulations.
Isidori F, Bozzarelli I, Mastracci L, Malvi D, Lugaresi M, Molinari C, Söderström H, Räsänen J, D'Errico A, Fiocca R, Seri M, Krishnadath KK, Bonora E, Mattioli S. Isidori F, et al. Clin Transl Gastroenterol. 2020 Sep;11(9):e00202. doi: 10.14309/ctg.0000000000000202. Clin Transl Gastroenterol. 2020. PMID: 33094962 Free PMC article.
14 results