Laura Papi

Florence, Italy

Last Updated: 09/26/2026

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Found 62 publications

Long-read genome sequencing resolves the breakpoints of a chromosome 8;22 balanced translocation in NF2-related schwannomatosis.

Long-read genome sequencing resolves the breakpoints of a chromosome 8;22 balanced translocation in NF2-related schwannomatosis.

Journal: Scientific reports

Published: October 31, 2025

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.

Journal: Breast (Edinburgh, Scotland)

Published: September 15, 2025

Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic Yield.

Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic Yield.

Journal: Human mutation

Published: May 13, 2025

Alu-Mediated Duplication and Deletion of Exon 11 Are Frequent Mechanisms of PALB2 Inactivation, Predisposing Individuals to Hereditary Breast-Ovarian Cancer Syndrome.

Alu-Mediated Duplication and Deletion of Exon 11 Are Frequent Mechanisms of PALB2 Inactivation, Predisposing Individuals to Hereditary Breast-Ovarian Cancer Syndrome.

Journal: Cancers

Published: October 14, 2024

Typical NF2 and LTZR1 mutations are retained in an immortalized human schwann cell model of schwannomatosis.

Typical NF2 and LTZR1 mutations are retained in an immortalized human schwann cell model of schwannomatosis.

Journal: Heliyon

Published: June 19, 2024

Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.

Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 03, 2024

Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk.

Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk.

Journal: medRxiv : the preprint server for health sciences

Published: March 18, 2024

Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer.

Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer.

Journal: NPJ genomic medicine

Published: March 14, 2024

Do We Need Fasting Prior to Coronary Angiography? The CORO-NF Randomized Pragmatic Study.

Do We Need Fasting Prior to Coronary Angiography? The CORO-NF Randomized Pragmatic Study.

Journal: The American journal of medicine

Published: January 23, 2024

Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.

Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.

Journal: British journal of cancer

Published: November 07, 2022

Breast cancer: the first comparative evaluation of oncobiome composition between males and females.

Breast cancer: the first comparative evaluation of oncobiome composition between males and females.

Journal: Biology of sex differences

Published: September 29, 2022

A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases.

A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases.

Journal: Journal of the American Society of Nephrology : JASN

Published: August 05, 2022

Showing 1-12 of 62

Last Updated: 09/26/2026