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34 results

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Page 1
On site DNA barcoding by nanopore sequencing.
Menegon M, Cantaloni C, Rodriguez-Prieto A, Centomo C, Abdelfattah A, Rossato M, Bernardi M, Xumerle L, Loader S, Delledonne M. Menegon M, et al. Among authors: xumerle l. PLoS One. 2017 Oct 4;12(10):e0184741. doi: 10.1371/journal.pone.0184741. eCollection 2017. PLoS One. 2017. PMID: 28977016 Free PMC article.
The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data.
Ferrarini A, Xumerle L, Griggio F, Garonzi M, Cantaloni C, Centomo C, Vargas SM, Descombes P, Marquis J, Collino S, Franceschi C, Garagnani P, Salisbury BA, Harvey JM, Delledonne M. Ferrarini A, et al. Among authors: xumerle l. PLoS One. 2015 Jul 6;10(7):e0132180. doi: 10.1371/journal.pone.0132180. eCollection 2015. PLoS One. 2015. PMID: 26147798 Free PMC article.
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
Corbett MA, Kroes T, Veneziano L, Bennett MF, Florian R, Schneider AL, Coppola A, Licchetta L, Franceschetti S, Suppa A, Wenger A, Mei D, Pendziwiat M, Kaya S, Delledonne M, Straussberg R, Xumerle L, Regan B, Crompton D, van Rootselaar AF, Correll A, Catford R, Bisulli F, Chakraborty S, Baldassari S, Tinuper P, Barton K, Carswell S, Smith M, Berardelli A, Carroll R, Gardner A, Friend KL, Blatt I, Iacomino M, Di Bonaventura C, Striano S, Buratti J, Keren B, Nava C, Forlani S, Rudolf G, Hirsch E, Leguern E, Labauge P, Balestrini S, Sander JW, Afawi Z, Helbig I, Ishiura H, Tsuji S, Sisodiya SM, Casari G, Sadleir LG, van Coller R, Tijssen MAJ, Klein KM, van den Maagdenberg AMJM, Zara F, Guerrini R, Berkovic SF, Pippucci T, Canafoglia L, Bahlo M, Striano P, Scheffer IE, Brancati F, Depienne C, Gecz J. Corbett MA, et al. Among authors: xumerle l. Nat Commun. 2019 Oct 29;10(1):4920. doi: 10.1038/s41467-019-12671-y. Nat Commun. 2019. PMID: 31664034 Free PMC article.
Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload.
Badar S, Busti F, Ferrarini A, Xumerle L, Bozzini P, Capelli P, Pozzi-Mucelli R, Campostrini N, De Matteis G, Marin Vargas S, Giorgetti A, Delledonne M, Olivieri O, Girelli D. Badar S, et al. Among authors: xumerle l. Am J Hematol. 2016 Jun;91(4):420-5. doi: 10.1002/ajh.24304. Am J Hematol. 2016. PMID: 26799139 Free article.
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).
Kurtas N, Arrigoni F, Errichiello E, Zucca C, Maghini C, D'Angelo MG, Beri S, Giorda R, Bertuzzo S, Delledonne M, Xumerle L, Rossato M, Zuffardi O, Bonaglia MC. Kurtas N, et al. Among authors: xumerle l. J Med Genet. 2018 Apr;55(4):269-277. doi: 10.1136/jmedgenet-2017-105125. Epub 2018 Jan 29. J Med Genet. 2018. PMID: 29378768 Free PMC article.
Centenarians as extreme phenotypes: An ecological perspective to get insight into the relationship between the genetics of longevity and age-associated diseases.
Giuliani C, Pirazzini C, Delledonne M, Xumerle L, Descombes P, Marquis J, Mengozzi G, Monti D, Bellizzi D, Passarino G, Luiselli D, Franceschi C, Garagnani P. Giuliani C, et al. Among authors: xumerle l. Mech Ageing Dev. 2017 Jul;165(Pt B):195-201. doi: 10.1016/j.mad.2017.02.007. Epub 2017 Feb 27. Mech Ageing Dev. 2017. PMID: 28242236 Review.
Whole-genome sequencing analysis of semi-supercentenarians.
Garagnani P, Marquis J, Delledonne M, Pirazzini C, Marasco E, Kwiatkowska KM, Iannuzzi V, Bacalini MG, Valsesia A, Carayol J, Raymond F, Ferrarini A, Xumerle L, Collino S, Mari D, Arosio B, Casati M, Ferri E, Monti D, Nacmias B, Sorbi S, Luiselli D, Pettener D, Castellani G, Sala C, Passarino G, De Rango F, D'Aquila P, Bertamini L, Martinelli N, Girelli D, Olivieri O, Giuliani C, Descombes P, Franceschi C. Garagnani P, et al. Among authors: xumerle l. Elife. 2021 May 4;10:e57849. doi: 10.7554/eLife.57849. Elife. 2021. PMID: 33941312 Free PMC article.
Centrosome Linker-induced Tetraploid Segregation Errors Link Rhabdoid Phenotypes and Lethal Colorectal Cancers.
Remo A, Manfrin E, Parcesepe P, Ferrarini A, Han HS, Mickys U, Laudanna C, Simbolo M, Malanga D, Oliveira DM, Baritono E, Colangelo T, Sabatino L, Giuliani J, Molinari E, Garonzi M, Xumerle L, Delledonne M, Giordano G, Ghimenton C, Lonardo F, D'angelo F, Grillo F, Mastracci L, Viglietto G, Ceccarelli M, Colantuoni V, Scarpa A, Pancione M. Remo A, et al. Among authors: xumerle l. Mol Cancer Res. 2018 Sep;16(9):1385-1395. doi: 10.1158/1541-7786.MCR-18-0062. Epub 2018 May 21. Mol Cancer Res. 2018. PMID: 29784668
34 results