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List of works by Natàlia Padilla Sirera

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

scientific article published on 03 July 2019

Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence.

scientific article published on 11 August 2017

Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.

scientific article

Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.

scientific article published on 2 June 2017

Epigenetic signature for attention-deficit/hyperactivity disorder: identification of miR-26b-5p, miR-185-5p, and miR-191-5p as potential biomarkers in peripheral blood mononuclear cells

scientific article published on 19 December 2018

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

scientific article published on 24 July 2018

New genes involved in Angelman syndrome-like: Expanding the genetic spectrum

scientific article published on 15 October 2021

Novel Mutations Causing C5 Deficiency in Three North-African Families.

scientific article

SeMPI: a genome-based secondary metabolite prediction and identification web server

scientific article published on 27 April 2017

The Complementarity Between Protein-Specific and General Pathogenicity Predictors for Amino Acid Substitutions

scientific article published on 10 July 2016

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