S. Bonache

发表

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

M. J. Fuentes-Raspall, I. Caragol, C. Alonso, 2015, Apoptosis.

Epigenetic Disruption of the PIWI Pathway in Human Spermatogenic Disorders

M. Esteller, H. Heyn, S. Sayols, 2012, PloS one.

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

X. de la Cruz, C. Riera, S. Bonache, 2019, Human mutation.

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

P. Radivojac, R. Casadio, O. Lichtarge, 2019, Human mutation.

Germline BRCA testing is moving from cancer risk assessment to a predictive biomarker for targeting cancer therapeutics

S. Bonache, O. Díez, S. Gutiérrez‐Enríquez, 2016, Clinical and Translational Oncology.

Age of Salpingo-Oophorectomy and Risk of Peritoneal Carcinomatosis in Patients with a BRCA Mutation

S. Bonache, O. Díez, S. Gutiérrez‐Enríquez, 2015 .

Antisense oligonucleotides targeting exon 11 are able to partially rescue the Neurofibromatosis Type 2 phenotype in vitro

S. Bonache, E. Serra, I. Blanco, 2022, bioRxiv.

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

S. Bonache, L. Bassas, S. Larriba, 2007, Fertility and sterility.

Altered gene expression signature of early stages of the germ line supports the pre‐meiotic origin of human spermatogenic failure

F. Algaba, S. Bonache, L. Bassas, 2014, Andrology.

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

S. Bonache, O. Díez, S. Gutiérrez‐Enríquez, 2013, Gynecologic oncology.

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

S. Bonache, E. Serra, E. Castellanos, 2022, Molecular therapy. Nucleic acids.

Molecular evaluation of CFTR sequence variants in male infertility of testicular origin.

S. Bonache, T. Casals, L. Bassas, 2005, International journal of andrology.

Clinical consequences of BRCA2 hypomorphism

J. Surrallés, S. Bonache, O. Díez, 2021, NPJ breast cancer.

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

Katherine M. Tucker, Sebastian A. Wagner, Kelly J. Sullivan, 2019, Human Mutation.

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

Á. Carracedo, S. Bonache, O. Díez, 2014, Breast Cancer Research and Treatment.

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

C. Caldas, J. Baselga, S. Cairo, 2018, EMBO molecular medicine.

RAD51 foci as a functional biomarker of homologous recombination repair and PARP inhibitor resistance in germline BRCA-mutated breast cancer

P. Kristel, C. Caldas, O. Rueda, 2018, Annals of oncology : official journal of the European Society for Medical Oncology.

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.

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

F. Mancuso, S. Bonache, O. Díez, 2018, Journal of Cancer Research and Clinical Oncology.

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

J. Benítez, A. Osorio, T. Ramón Y Cajal, 2014, International journal of cancer.

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

S. Bonache, O. Díez, S. Gutiérrez‐Enríquez, 2018, Journal of Medical Genetics.

Characterization of four novel BRCA2 large genomic rearrangements in Spanish breast/ovarian cancer families: review of the literature, and reevaluation of the genetic mechanisms involved in their origin

J. Benítez, S. Bonache, O. Díez, 2012, Breast Cancer Research and Treatment.

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

M. J. Fuentes-Raspall, I. Caragol, C. Alonso, 2015, Apoptosis.

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..

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

S. Bonache, O. Díez, S. Gutiérrez‐Enríquez, 2018, Breast Cancer Research and Treatment.

Changes in the expression profile of the meiosis-involved mismatch repair genes in impaired human spermatogenesis.

S. Bonache, L. Bassas, S. Larriba, 2010, Journal of andrology.

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

S. Bonache, O. Díez, S. Gutiérrez‐Enríquez, 2019, Human mutation.

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

S. Bonache, E. Serra, C. Hernández-Chico, 2022, Journal of Medical Genetics.

Mutation analysis of the SHFM1 gene in breast/ovarian cancer families

Orland Diez, Judith Balmaña, S. Bonache, 2013, Journal of Cancer Research and Clinical Oncology.

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

S. Bonache, L. Bassas, S. Larriba, 2012, Human reproduction.

Single nucleotide polymorphisms in succinate dehydrogenase subunits and citrate synthase genes: association results for impaired spermatogenesis.

S. Bonache, L. Bassas, S. Larriba, 2007, International journal of andrology.

Spectrum of mutations in CFTR in Finland: 18 years follow-up study and identification of two novel mutations.

J. Kere, I. Järvelä, S. Bonache, 2005, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Human Mutation

S. Bonache, O. Díez, J. Balmaña, 2019 .

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

Silvio C. E. Tosatto, Julius O. B. Jacobsen, Nicholas A. Sinnott-Armstrong, 2024, Genome biology.

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

Nicholas A. Sinnott-Armstrong, Jonathan M. Mudge, Hui Ting Grace Yeo, 2022, Genome biology.

Epigenetic Disruption of the PIWI Pathway in Human Spermatogenic Disorders

M. Esteller, H. Heyn, S. Bonache, 2012, PloS one.