Publications by authors named "Roberta Bordoni"

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Skin Photodamage and Melanomagenesis: A Comprehensive Review.
Michele Manganelli, Giorgio Stabile, Camila Scharf, Antonio Podo Brunetti, Giovanni Paolino, Roberta Bordoni

Cancers (Basel)· May 2025

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Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes.
Viviana Tritto, Paola Bettinaglio, Eleonora Mangano, Claudia Cesaretti, Federica Marasca, Roberta Bordoni

Hum Genet· June 2024

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New insights into the molecular basis of spinal neurofibromatosis type 1.
Paola Bettinaglio, Eleonora Mangano, Viviana Tritto, Roberta Bordoni, Rosina Paterra

Eur J Hum Genet· August 2023

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A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.
Rosina Paterra, Paola Bettinaglio, Arianna Borghi, Eleonora Mangano, Viviana Tritto, Roberta Bordoni

Cancers (Basel)· December 2022

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A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility.
Melissa Sorosina, Nadia Barizzone, Ferdinando Clarelli, Santosh Anand, Sara Lupoli, Roberta Bordoni

J Neurol· August 2022

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Correction to: A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility.
Melissa Sorosina, Nadia Barizzone, Ferdinando Clarelli, Santosh Anand, Sara Lupoli, Roberta Bordoni

J Neurol· August 2022

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Author Correction: Genome sequencing of Prototheca zopfii genotypes 1 and 2 provides evidence of a severe reduction in organellar genomes.
Marco Severgnini, Barbara Lazzari, Emanuele Capra, Stefania Chessa, Mario Luini, Roberta Bordoni

Sci Rep· April 2022

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Contribution of Rare and Low-Frequency Variants to Multiple Sclerosis Susceptibility in the Italian Continental Population.
Ferdinando Clarelli, Nadia Barizzone, Eleonora Mangano, Miriam Zuccalà, Chiara Basagni, Roberta Bordoni

Front Genet· January 2022

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Genomic and functional evaluation of TNFSF14 in multiple sclerosis susceptibility.
Miriam Zuccalà, Nadia Barizzone, Elena Boggio, Luca Gigliotti, Melissa Sorosina, Roberta Bordoni

J Genet Genomics· June 2021

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A reliable strategy for single-cell RNA sequencing analysis using cryoconserved primary cortical cells.
Lucia Verrillo, Eleonora Mangano, Denise Drongitis, Ivan Merelli, Francesca Pischedda, Roberta Bordoni

J Neurosci Methods· January 2021

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The Genome-Wide Impact of Loss-of-Function on Zebrafish Gene Expression.
Marco Spreafico, Eleonora Mangano, Mara Mazzola, Clarissa Consolandi, Roberta Bordoni

Int J Mol Sci· December 2020

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Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?
Luca Ferrari, Eleonora Mangano, Maria Teresa Bonati, Ilaria Monterosso, Daniele Capitanio, Roberta Bordoni

Eur J Hum Genet· October 2020

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Author Correction: Next Generation Sequencing of Pooled Samples: Guideline for Variants' Filtering.
Santosh Anand, Eleonora Mangano, Nadia Barizzone, Roberta Bordoni, Melissa Sorosina

Sci Rep· March 2020

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A novel homozygous mutation in the TRDN gene causes a severe form of pediatric malignant ventricular arrhythmia.
Daniela Rossi, Lorenzo Gigli, Alessandra Gamberucci, Roberta Bordoni, Alessandro Pietrelli

Heart Rhythm· February 2020

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Genome sequencing of Prototheca zopfii genotypes 1 and 2 provides evidence of a severe reduction in organellar genomes.
Marco Severgnini, Barbara Lazzari, Emanuele Capra, Stefania Chessa, Mario Luini, Roberta Bordoni

Sci Rep· October 2018

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A Census of Tandemly Repeated Polymorphic Loci in Genic Regions Through the Comparative Integration of Human Genome Assemblies.
Loredana M Genovese, Filippo Geraci, Lucia Corrado, Eleonora Mangano, Romina D'Aurizio, Roberta Bordoni

Front Genet· May 2018

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T cell neoepitope discovery in colorectal cancer by high throughput profiling of somatic mutations in expressed genes.
Daniele Mennonna, Cristina Maccalli, Michele C Romano, Claudio Garavaglia, Filippo Capocefalo, Roberta Bordoni

Gut· March 2017

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Next Generation Sequencing of Pooled Samples: Guideline for Variants' Filtering.
Santosh Anand, Eleonora Mangano, Nadia Barizzone, Roberta Bordoni, Melissa Sorosina

Sci Rep· September 2016

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A Genomic, Transcriptomic and Proteomic Look at the GE2270 Producer Planobispora rosea, an Uncommon Actinomycete.
Arianna Tocchetti, Roberta Bordoni, Giuseppe Gallo, Luca Petiti, Giorgio Corti

PLoS One· May 2016

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High-throughput genetic characterization of a cohort of Brugada syndrome patients.
Chiara Di Resta, Alessandro Pietrelli, Simone Sala, Paolo Della Bella, Gianluca De Bellis, Roberta Bordoni

Hum Mol Genet· October 2015

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Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism.
Maria Carla Proverbio, Eleonora Mangano, Alessandra Gessi, Roberta Bordoni, Roberta Spinelli

PLoS One· March 2014

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A glycosylated, labionin-containing lanthipeptide with marked antinociceptive activity.
Marianna Iorio, Oscar Sasso, Sonia I Maffioli, Rosalia Bertorelli, Paolo Monciardini, Roberta Bordoni

ACS Chem Biol· February 2014

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Profiling celiac disease antibody repertoire.
Sara D'Angelo, Flavio Mignone, Cecilia Deantonio, Roberto Di Niro, Roberta Bordoni

Clin Immunol· July 2013

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Acquired copy-neutral loss of heterozygosity of chromosome 1p as a molecular event associated with marrow fibrosis in MPL-mutated myeloproliferative neoplasms.
Elisa Rumi, Daniela Pietra, Paola Guglielmelli, Roberta Bordoni, Ilaria Casetti

Blood· May 2013

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Deep sequencing reveals double mutations in cis of MPL exon 10 in myeloproliferative neoplasms.
Daniela Pietra, Angela Brisci, Elisa Rumi, Sabrina Boggi, Chiara Elena, Roberta Bordoni

Haematologica· April 2011

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