M. Menéndez

发表

Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes

Ignacio Blanco, Eduard Serra, Joan Brunet, 2012, European Journal of Human Genetics.

Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes

C. Lázaro, G. Capellá, A. Osorio, 2012, Breast Cancer Research and Treatment.

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer

Bernat Gel, Jean-Rémi Trotta, Eduard Serra, 2017, Scientific Reports.

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

A. Spurdle, C. Lázaro, S. Tognazzo, 2012, Breast Cancer Research and Treatment.

Colorectal cancer risk and the APC D1822V variant

M. Peris, E. Guinó, V. Moreno, 2004, International journal of cancer.

Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA

C. Lázaro, G. Capellá, L. Feliubadaló, 2016, Breast Cancer Research and Treatment.

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.

F. Couch, A. Spurdle, M. Southey, 2014, Clinical chemistry.

MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness study

S. Gruber, C. Lázaro, G. Capellá, 2012, European Journal of Human Genetics.

Founder effect of a pathogenic MSH2 mutation identified in Spanish families with Lynch syndrome

G. Capellá, T. Ramón Y Cajal, R. de Cid, 2010, Clinical genetics.

Improving genetic testing in hereditary cancer by RNA analysis: tools to prioritize splicing studies and challenges in applying American College of Medical Genetics and Genomics guidelines.

C. Lázaro, G. Capellá, L. Feliubadaló, 2020, The Journal of molecular diagnostics : JMD.

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

R. Nussbaum, D. Steinemann, V. Pankratz, 2014, Breast Cancer Research.

RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant

C. Lázaro, G. Capellá, R. de Cid, 2021, Scientific Reports.

High Prevalence of Somatic Oncogenic Driver Alterations in Patients With NSCLC and Li-Fraumeni Syndrome

C. Lázaro, G. Capellá, D. Planchard, 2020 .

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach

L. Andrews, P. Møller, A. Spurdle, 2022, Human mutation.

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.

A. Spurdle, D. Baralle, R. Brandão, 2014, Human molecular genetics.

APC inactivation associates with abnormal mitosis completion and concomitant BUB1B/MAD2L1 up-regulation.

E. Barillot, W. Ansorge, G. Capellá, 2007, Gastroenterology.

Identification of a founder BRCA1 mutation in the Moroccan population

C. Lázaro, G. Capellá, L. Feliubadaló, 2016, Clinical genetics.

Comprehensive analysis and ACMG‐based classification of CHEK2 variants in hereditary cancer patients

C. Lázaro, G. Capellá, A. López-Dóriga, 2020, Human mutation.

Title Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA 1 and BRCA 2 mutation carriers

R. Nussbaum, D. Steinemann, V. Pankratz, 2015 .

DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Olufunmilayo I. Olopade, Mads Thomassen, Torben A. Kruse, 2014, PLoS genetics.

University of Groningen DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers Osorio,

Rensburg, A. Whittemore, D. Steinemann, 2014 .

Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

Gabriel Capellá, Ana Vega, Alejandro Moles-Fernández, 2018, Front. Genet..

Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes

C. Lázaro, G. Capellá, M. Nadal, 2010, Breast Cancer Research and Treatment.

Functional characterization of the novel APC N1026S variant associated with attenuated familial adenomatous polyposis.

V. Moreno, J. Valls, G. Capellá, 2008, Gastroenterology.

Brief report: High prevalence of somatic oncogenic driver alterations in non-small cell lung cancer patients with Li-Fraumeni Syndrome.

C. Lázaro, G. Capellá, D. Planchard, 2020, Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer.

P1.01-54 Somatic Genome Alterations in Lung Cancer Patients Diagnosed with Li Fraumeni Syndrome

C. Lázaro, J. Bosch-Barrera, B. Cirauqui, 2019, Journal of Thoracic Oncology.

Functional characterization of the novel APC N1026S variant associated with attenuated familial adenomatous polyposis.

V. Moreno, J. Valls, G. Capellá, 2008, Gastroenterology.

ICO Amplicon NGS Data Analysis: A Web Tool for Variant Detection in Common High‐Risk Hereditary Cancer Genes Analyzed by Amplicon GS Junior Next‐Generation Sequencing

V. Moreno, C. Lázaro, G. Capellá, 2014, Human mutation.

DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

A. Whittemore, D. Steinemann, F. Couch, 2014, PLoS genetics.

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.

F. Couch, A. Spurdle, M. Southey, 2014, Clinical chemistry.