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Page 1
Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.
Bonfiglio F, Lasorsa VA, Cantalupo S, D'Alterio G, Aievola V, Boccia A, Ardito M, Furini S, Renieri A, Morini M, Stainczyk S, Westermann F, Paolella G, Eva A, Iolascon A, Capasso M. Bonfiglio F, et al. EBioMedicine. 2023 Jan;87:104395. doi: 10.1016/j.ebiom.2022.104395. Epub 2022 Dec 6. EBioMedicine. 2023. PMID: 36493725 Free PMC article.
Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data.
Bonfiglio F, Legati A, Lasorsa VA, Palombo F, De Riso G, Isidori F, Russo S, Furini S, Merla G, Coppedè F, Tartaglia M; Omics Sciences - Bioinformatics and Epigenetics Working Groups of the Italian Society of Human Genetics (SIGU); Bruselles A, Pippucci T, Ciolfi A, Pinelli M, Capasso M. Bonfiglio F, et al. Hum Genomics. 2024 Nov 5;18(1):120. doi: 10.1186/s40246-024-00684-8. Hum Genomics. 2024. PMID: 39501379 Free PMC article. Review.
Sucrase Isomaltase Dysfunction Reduces Sucrose Intake in Mice and Humans.
Aldiss P, Torices L, Ramne S, Jørgensen ME; Sucrase-Isomaltase Working Group; D'Amato M, Andersen MK. Aldiss P, et al. Gastroenterology. 2024 Nov 13:S0016-5085(24)05691-9. doi: 10.1053/j.gastro.2024.10.040. Online ahead of print. Gastroenterology. 2024. PMID: 39542403 Free article. No abstract available.
Functional Variation in Human CAZyme Genes in Relation to the Efficacy of a Carbohydrate-Restricted Diet in IBS Patients.
Zamfir-Taranu A, Löscher BS, Carbone F, Hoter A, Esteban Blanco C, Bozzarelli I, Torices L, Routhiaux K, Van den Houte K, Bonfiglio F, Mayr G, Corsetti M, Naim HY, Franke A, Tack J, D'Amato M. Zamfir-Taranu A, et al. Among authors: bonfiglio f. Clin Gastroenterol Hepatol. 2024 Oct 14:S1542-3565(24)00870-X. doi: 10.1016/j.cgh.2024.09.004. Online ahead of print. Clin Gastroenterol Hepatol. 2024. PMID: 39413891 Free article.
Human CAZyme genes polymorphism and risk of IBS: a population-based study.
Torices L, Zamfir-Taranu A, Esteban-Blanco C, Bozzarelli I, Bonfiglio F, D'Amato M. Torices L, et al. Among authors: bonfiglio f. Gut. 2024 Jul 5:gutjnl-2024-333056. doi: 10.1136/gutjnl-2024-333056. Online ahead of print. Gut. 2024. PMID: 38969488 Free article. No abstract available.
Rome III Criteria Capture Higher Irritable Bowel Syndrome SNP-Heritability and Highlight a Novel Genetic Link With Cardiovascular Traits.
Camargo Tavares L, Lopera-Maya EA, Bonfiglio F, Zheng T, Sinha T, Zanchetta Marques F, Zhernakova A, Sanna S, D'Amato M. Camargo Tavares L, et al. Among authors: bonfiglio f. Cell Mol Gastroenterol Hepatol. 2024;18(2):101345. doi: 10.1016/j.jcmgh.2024.04.002. Epub 2024 Apr 19. Cell Mol Gastroenterol Hepatol. 2024. PMID: 38643935 Free PMC article.
Human Leukocyte Antigen Signatures as Pathophysiological Discriminants of Microscopic Colitis Subtypes.
Zheng T, Roda G, Zabana Y, Escudero-Hernández C, Liu X, Chen Y, Camargo Tavares L, Bonfiglio F, Mellander MR, Janczewska I, Vigren L, Sjöberg K, Ohlsson B, Almer S, Halfvarson J, Miehlke S, Madisch A, Lieb W, Kupčinskas J, Weersma RK, Bujanda L, Julià A, Marsal S, Esteve M, Guagnozzi D, Fernández-Bañares F, Ferrer C; MC-Europe GETECCU GWAS group; Peter I, Ludvigsson JF, Pardi D, Verhaegh B, Jonkers D, Pierik M, Münch A, Franke A, Bresso F, Khalili H, Colombel JF, D'Amato M. Zheng T, et al. Among authors: bonfiglio f. J Crohns Colitis. 2024 Mar 1;18(3):349-359. doi: 10.1093/ecco-jcc/jjad165. J Crohns Colitis. 2024. PMID: 37768647
60 results