Simona Agata
Padova, Italy
Last Updated: 09/26/2026
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Found 25 publications
DDOST-Congenital Disorder of Glycosylation: Defining the Clinical Spectrum and First Report of a Structural Variant.
Journal: American journal of medical genetics. Part A
Published: October 02, 2025
Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk.
Journal: European journal of human genetics : EJHG
Published: March 22, 2022
Polygenic risk modeling for prediction of epithelial ovarian cancer risk.
Journal: European journal of human genetics : EJHG
Published: December 07, 2020
Segregation analysis of the BRCA2 c.9227G>T variant in multiple families suggests a pathogenic role in breast and ovarian cancer predisposition.
Journal: Scientific reports
Published: April 28, 2020
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.
Journal: Nature communications
Published: October 28, 2019
Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness.
Journal: Cancer research
Published: July 01, 2019
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.
Journal: NPJ breast cancer
Published: March 29, 2019
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Journal: Human mutation
Published: January 30, 2019
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.
Journal: Nature genetics
Published: December 13, 2018
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Journal: Human mutation
Published: October 30, 2017
Whole-exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene.
Journal: Cancer
Published: July 21, 2016
Last Updated: 09/26/2026