List of works - Alexandra Martins

A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays

scientific article published on 26 July 2014

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

scientific article published on 5 September 2017

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report

scientific article published on 19 March 2019

Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.

scientific article

Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient.

scientific article published in January 2018

Calibration of pathogenicity due to variant-induced leaky splicing defects by using BRCA2 exon 3 as a model system

scientific article published on 08 July 2020

Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants

scientific article

Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer.

scientific article

Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

scientific article published on 13 January 2016

Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays and protein analyses: benefits for the accurate diagnosis of congenital hyperinsulinism

scientific article published on 07 January 2021

Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds

scientific article

Identification of genetic variants for clinical management of familial colorectal tumors.

scientific article published on 20 February 2018

Large-scale comparative evaluation of user-friendly tools for predicting variant-induced alterations of splicing regulatory elements

scientific article published on 02 August 2020

MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing

scientific article published on 04 May 2020

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

scientific article

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

scientific article published on 01 September 2018

Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.

scientific article published on 12 June 2017

Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing

scientific article published on 06 December 2019

List of works by Alexandra Martins

A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report

Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.

Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient.

Calibration of pathogenicity due to variant-induced leaky splicing defects by using BRCA2 exon 3 as a model system

Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants

Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer.

Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays and protein analyses: benefits for the accurate diagnosis of congenital hyperinsulinism

Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds

Identification of genetic variants for clinical management of familial colorectal tumors.

Large-scale comparative evaluation of user-friendly tools for predicting variant-induced alterations of splicing regulatory elements

MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.

Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing