Orland Diez

6PUBLICATIONS
28CO-AUTHORS
Statistical and quantitative geneticsCancer geneticsGene expression (incl. microarray and other genome-wide approaches)
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Publications (6)

|May 28, 2019
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Michael T Parsons, Emma Tudini, Hongyan Li

|May 22, 2019
BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge.

Natàlia Padilla, Alejandro Moles-Fernández, Casandra Riera

|Jan 10, 2019
Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes.

Rita D Brandão, Klaas Mensaert, Irene López-Perolio

|Dec 16, 2018
Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T.

Laura Duran-Lozano, Gemma Montalban, Sandra Bonache

|Oct 12, 2018
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.

Sandra Bonache, Irene Esteban, Alejandro Moles-Fernández

|Jul 04, 2018
Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study.

Gemma Montalban, Eugenia Fraile-Bethencourt, Irene López-Perolio

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Frequent Collaborators

6 joint publications

Sara Gutiérrez-Enríquez

2 joint publications

Gemma Montalban

2 joint publications

Ana Vega

2 joint publications

Miguel de la Hoya