Search filters

List of works by Gabriele L Capone

A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene

scientific article

A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas

scientific article

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

scientific article published on 25 April 2015

Broadening the spectrum of SMARCB1-associated malignant tumors: a case of uterine leiomyosarcoma in a patient with schwannomatosis.

scientific article published on 6 May 2015

Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma

scientific article published on 11 December 2017

Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection

scientific article published on 20 October 2017

Expanding the mutational spectrum of LZTR1 in schwannomatosis

scientific article published on 22 October 2014

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

scientific article

Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) C

scientific article published on 26 October 2018

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

scientific article published on 01 September 2019

Paulina is supported by:

About Paulina

Help