Publications by authors named "Laura Papi"

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Breast cancer: the first comparative evaluation of oncobiome composition between males and females.
Elena Niccolai, Simone Baldi, Giulia Nannini, Francesca Gensini, Laura Papi, Vania Vezzosi, Simonetta Bianchi, Lorenzo Orzalesi, Matteo Ramazzotti, Amedeo Amedei

Biol Sex Differ· June 2023

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Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.
Niccolò Di Giosaffatte, Paola Daniele, Francesco Petrizzelli, Chiara Iacovino, Chiara Canciani, Laura Papi

Breast· December 2025

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Long-read genome sequencing resolves the breakpoints of a chromosome 8;22 balanced translocation in NF2-related schwannomatosis.
Marco Montini, Lorenzo Bonacchi, Diletta Sidoti, Stefano Cuccoli, Marilena Pantaleo, Laura Papi

Sci Rep· December 2025

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Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer.
Daniel R Barnes, Jonathan P Tyrer, Joe Dennis, Goska Leslie, Manjeet K Bolla, Laura Papi

NPJ Genom Med· November 2025

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Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.
Gioia Mastromoro, Claudia Santoro, Marialetizia Motta, Ugo Sorrentino, Paola Daniele, Laura Papi

Genet Med· November 2024

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Alu-Mediated Duplication and Deletion of Exon 11 Are Frequent Mechanisms of Inactivation, Predisposing Individuals to Hereditary Breast-Ovarian Cancer Syndrome.
Diletta Sidoti, Valeria Margotta, Diletta Calosci, Erika Fiorentini, Costanza Bacci, Laura Papi

Cancers (Basel)· November 2024

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Typical NF2 and LTZR1 mutations are retained in an immortalized human schwann cell model of schwannomatosis.
Valentina Melfi, Tasnim Mohamed, Alessandra Colciago, Alessandra Fasciani, Raffaele De Francesco, Laura Papi

Heliyon· October 2024

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Do We Need Fasting Prior to Coronary Angiography? The CORO-NF Randomized Pragmatic Study.
Pietro Paolo Tamborrino, Laura Papi, Laura Michelotti, Carlo Vitale, Paolo Caravelli

Am J Med· July 2024

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Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk.
Daniel R Barnes, Jonathan P Tyrer, Joe Dennis, Goska Leslie, Manjeet K Bolla, Laura Papi

medRxiv· March 2024

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Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.
Denise G O'Mahony, Susan J Ramus, Melissa C Southey, Nicola S Meagher, Andreas Hadjisavvas, Laura Papi

Br J Cancer· June 2023

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A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases.
Francesca Becherucci, Samuela Landini, Viviana Palazzo, Luigi Cirillo, Valentina Raglianti, Laura Papi

J Am Soc Nephrol· April 2023

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LZTR1 Mutation Mediates Oncogenesis through Stabilization of EGFR and AXL.
Aram Ko, Mohammad Hasanain, Young Taek Oh, Fulvio D'Angelo, Danika Sommer, Laura Papi

Cancer Discov· March 2023

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Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
Scott R Plotkin, Ludwine Messiaen, Eric Legius, Patrice Pancza, Robert A Avery, Laura Papi

Genet Med· September 2022

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ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis.
D Gareth Evans, Stefania Mostaccioli, David Pang, Mary Fadzil O Connor, Melpo Pittara, Laura Papi

Eur J Hum Genet· July 2022

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Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk.
Eileen O Dareng, Jonathan P Tyrer, Daniel R Barnes, Michelle R Jones, Xin Yang, Laura Papi

Eur J Hum Genet· May 2022

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Polygenic risk modeling for prediction of epithelial ovarian cancer risk.
Eileen O Dareng, Jonathan P Tyrer, Daniel R Barnes, Michelle R Jones, Xin Yang, Laura Papi

Eur J Hum Genet· March 2022

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Early-onset malignant phyllodes breast tumor in a patient with germline pathogenic variants in NF1 and BRCA1 genes.
Francesca Gensini, Roberta Sestini, Alessandro De Luca, Valentina Pinna, Paola Daniele, Laura Papi

Fam Cancer· July 2021

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When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort.
Alexandra Scott, Niccolò Di Giosaffatte, Valentina Pinna, Paola Daniele, Sara Corno, Laura Papi

Genet Med· June 2021

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Epigenomic, genomic, and transcriptomic landscape of schwannomatosis.
Sheila Mansouri, Suganth Suppiah, Yasin Mamatjan, Irene Paganini, Jeffrey C Liu, Laura Papi

Acta Neuropathol· January 2021

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Correction to: Epigenomic, genomic, and transcriptomic landscape of schwannomatosis.
Sheila Mansouri, Suganth Suppiah, Yasin Mamatjan, Irene Paganini, Jeffrey C Liu, Laura Papi

Acta Neuropathol· January 2021

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Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants.
Daniel R Barnes, Matti A Rookus, Lesley McGuffog, Goska Leslie, Thea M Mooij, Laura Papi

Genet Med· October 2020

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Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
Valentina Silvestri, Goska Leslie, Daniel R Barnes, , Bjarni A Agnarsson, Laura Papi

JAMA Oncol· August 2020

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A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndrome.
Irene Bottillo, Michele Valiante, Lucia Menale, Alessandro Paiardini, Laura Papi

Dermatol Online J· August 2020

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Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses.
Haoyu Zhang, Thomas U Ahearn, Julie Lecarpentier, Daniel Barnes, Jonathan Beesley, Laura Papi

Nat Genet· June 2020

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The Spectrum of Protein Truncating Variants in European Breast Cancer Cases.
Gisella Figlioli, Anders Kvist, Emma Tham, Jana Soukupova, Petra Kleiblova, Laura Papi

Cancers (Basel)· January 2020

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