Orland Diez
Barcelona, CT, Spain
Last Updated: 09/26/2026
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Found 163 publications
RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium.
Journal: American journal of human genetics
Published: February 19, 2026
Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages.
Journal: Journal of medical genetics
Published: January 13, 2026
Author Correction: Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.
Journal: Nature communications
Published: September 09, 2025
Integrating genetic polymorphisms and clinical data to develop predictive models for skin toxicity in breast cancer radiation therapy.
Journal: Breast (Edinburgh, Scotland)
Published: January 13, 2025
A randomized study of 2 risk assessment models for individualized breast cancer risk estimation.
Journal: Journal of the National Cancer Institute
Published: September 30, 2024
Novel truncating germline variant reinforces TINF2 as a susceptibility gene for familial non-medullary thyroid cancer.
Journal: Journal of medical genetics
Published: June 14, 2024
The PARP1 selective inhibitor saruparib (AZD5305) elicits potent and durable antitumor activity in patient-derived BRCA1/2-associated cancer models.
Journal: Genome medicine
Published: February 13, 2024
An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history.
Journal: European journal of human genetics : EJHG
Published: September 30, 2022
A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis.
Journal: The Journal of molecular diagnostics : JMD
Published: September 15, 2022
Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders.
Journal: Journal of medical genetics
Published: September 07, 2022
Role of psychological background in cancer susceptibility genetic testing distress: It is not only about a positive result.
Journal: Journal of genetic counseling
Published: September 05, 2022
Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk.
Journal: European journal of human genetics : EJHG
Published: March 22, 2022
Last Updated: 09/26/2026