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A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation

EMBO molecular medicine, 2018-12, Vol.10 (12), p.n/a

2018

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Epigenetic disruption of the PIWI pathway in human spermatogenic disorders

PloS one, 2012-10, Vol.7 (10), p.e47892-e47892

2012

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Sperm gene expression profile is related to pregnancy rate after insemination and is predictive of low fecundity in normozoospermic men

Human reproduction (Oxford), 2012-06, Vol.27 (6), p.1556-1567

2012

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Antisense oligonucleotides targeting exon 11 are able to partially rescue the NF2-related schwannomatosis phenotype in vitro

Molecular therapy. Nucleic acids, 2022-12, Vol.30, p.493-505

2022

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Clinical consequences of BRCA2 hypomorphism

NPJ breast cancer, 2021-09, Vol.7 (1), p.117-117, Article 117

2021

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Mutations of SYCP3 are rare in infertile Spanish men with meiotic arrest

Fertility and sterility, 2007-10, Vol.88 (4), p.988-989

2007

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

Human mutation, 2019-09, Vol.40 (9), p.1557-1578

2019

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Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer

Journal of medical genetics, 2019-02, Vol.56 (2), p.63

2019

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Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings

Journal of cancer research and clinical oncology, 2018-12, Vol.144 (12), p.2495-2513

2018

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Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?

Journal of medical genetics, 2022-10, Vol.59 (10), p.1017

2022

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Front Cover, Volume 40, Issue 9

Human mutation, 2019-09, Vol.40 (9), p.i-i

2019

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Incorporation of semi‐quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes

Human mutation, 2019-12, Vol.40 (12), p.2296-2317

2019

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Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5GT.(Brief Report)

Breast cancer research and treatment, 2019-04, Vol.174 (2), p.543

2019

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BRCA1‐ and BRCA2‐specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge

Human mutation, 2019-09, Vol.40 (9), p.1593-1611

2019

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BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients

Cancer genetics, 2021-11, Vol.258-259, p.10-17

2021

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RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families

Breast cancer research and treatment, 2014-08, Vol.147 (1), p.133-143

2014

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Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T

Breast cancer research and treatment, 2019-04, Vol.174 (2), p.543-550

2019

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Multiplex testing in high risk BRCA1/2 -negative families

Journal of clinical oncology, 2015-05, Vol.33 (15_suppl), p.e12557-e12557

2015

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Mutation analysis of the BCCIP gene for breast cancer susceptibility in breast/ovarian cancer families

Gynecologic oncology, 2013-11, Vol.131 (2), p.460-463

2013

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About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants

International journal of cancer, 2014-05, Vol.134 (9), p.2088-2097

2014

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Apoptosis for prediction of radiotherapy late toxicity: lymphocyte subset sensitivity and potential effect of TP53 Arg72Pro polymorphism

Apoptosis (London), 2015-03, Vol.20 (3), p.371-382

2015

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A RAD 51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation

EMBO molecular medicine, 2018-12, Vol.10 (12)

2018

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A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation

Epigenetic disruption of the PIWI pathway in human spermatogenic disorders

Sperm gene expression profile is related to pregnancy rate after insemination and is predictive of low fecundity in normozoospermic men

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

Antisense oligonucleotides targeting exon 11 are able to partially rescue the NF2-related schwannomatosis phenotype in vitro

Clinical consequences of BRCA2 hypomorphism

Mutations of SYCP3 are rare in infertile Spanish men with meiotic arrest

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

Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer

Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings

Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?

Front Cover, Volume 40, Issue 9

Incorporation of semi‐quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes

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

Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5GT.(Brief Report)

BRCA1‐ and BRCA2‐specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge

BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients

Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants

RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families

Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T

Multiplex testing in high risk BRCA1/2 -negative families

Mutation analysis of the BCCIP gene for breast cancer susceptibility in breast/ovarian cancer families

About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants

Apoptosis for prediction of radiotherapy late toxicity: lymphocyte subset sensitivity and potential effect of TP53 Arg72Pro polymorphism

A RAD 51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation

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