RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium
Joanna Domènech-Vivó, Hélène Tubeuf, Romy L.S. Mesman, Aurélie Drouet et autres
0 citationsThe American Journal of Human Genetics
Miguel de la Hoya
Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.
295Publications signalées
11564Citations signalées
2Affiliations récentes
Institutions déclarées
Domaines associés
BRCA gene mutations in cancerGenetic factors in colorectal cancerDNA Repair MechanismsGenomics and Rare DiseasesGenomic variations and chromosomal abnormalities
Publications récentes
Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages
Arcangela De Nicolo, Diana Eccles, Aaltonen Kirsimari, Pia Alhopuro et autres
0 citationsCU Research Publications Repository
Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages
Arcangela De Nicolo, Diana Eccles, Aaltonen Kirsimari, Pia Alhopuro et autres
0 citationsZenodo (CERN European Organization for Nuclear Research)
Homologous recombination deficiency tumor tissue testing in a real-world cohort of tubo-ovarian carcinoma patients: validation of decentralized genomic profiling in 4777 cases
F. Rojo, Conxi Lazaro, I. Abdulkader-Nallib, Carlos Camps et autres
1 citationArchiv für Pathologische Anatomie und Physiologie und für Klinische Medicin
A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome
Gerard P. Zambetti, Bing Feng, Jessica N. Hatton, Sharon A. Savage et autres
0 citationsCarolina Digital Repository (University of North Carolina at Chapel Hill)
Splicing Predictions, Splicing Assays, and Variant Classification Using ACMG/AMP Guidelines: Challenges Observed with BRCA1 and BRCA2 Variants
Marta Santamariña, Olivia Fuentes-Ríos, Ana Blanco-Pérez, Belinda Rodríguez-Lage et autres
1 citationClinical Chemistry
Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer
Daniel R. Barnes, Jonathan P. Tyrer, Joe Dennis, Goska Leslie et autres
0 citationsnpj Genomic Medicine
Generation of functional noncanonical donor splice sites by + 2T variants in breast cancer susceptibility genes: impact on clinical interpretation
Inés Llinares‐Burguet, Lara Sanoguera‐Miralles, Elena Bueno‐Martínez, Alicia García‐Álvarez et autres
0 citationsThe Journal of Pathology
Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer
Amandine Billaud, Gisella Figlioli, Irene Casamassima, Violette Azzoni et autres
2 citationsThe Breast
BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes
Sharon E. Johnatty, Emma Tudini, Michael T. Parsons, Kyriaki Michailidou et autres
2 citationsThe American Journal of Human Genetics
Comparative Evaluation of Mutect2, Strelka2, and FreeBayes for Somatic SNV Detection in Synthetic and Clinical Whole-Exome Sequencing Data
Igor López-Cade, Alicia Gómez-Sanz, Adrián Sanvicente, Cristina Díaz‐Tejeiro et autres
2 citationsBiomolecules
A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome
Cristina Fortuño, Megan N. Frone, Jessica L. Mester, Miguel de la Hoya et autres
6 citationsGenome Medicine
BNTIC News n’est pas le producteur de ces données. Recherche à la demande dans Crossref et Europe PMC, sans clé ; OpenAlex reste optionnel. Aucun service payant requis, aucune réponse conservée. Sources et limites.