N. Padilla

发表

Gain and loss of function variants in EZH1 disrupt neurogenesis timing and cause overlapping neurodevelopmental disorders

H. Hakonarson, D. Reinberg, G. Ming, 2022, medRxiv.

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

A. Valencia, T. Pons, C. Lázaro, 2017, International journal of cancer.

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

I. T. de Almeida, X. de la Cruz, C. Riera, 2018, Orphanet Journal of Rare Diseases.

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

C. Lázaro, G. Capellá, B. Thompson, 2017, Familial Cancer.

The computational approach to variant interpretation

Xavier de la Cruz, Natàlia Padilla, Alejandro Moles-Fernández, 2021 .

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.

PHF2 histone demethylase prevents DNA damage and genome instability by controlling cell cycle progression of neural progenitors

X. de la Cruz, M. Martínez-Balbás, Stella Pappa, 2019, Proceedings of the National Academy of Sciences.

Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2: In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants

X. de la Cruz, Selen Özkan, N. Padilla, 2021, International journal of molecular sciences.

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

Xavier de la Cruz, Natàlia Padilla, X. de la Cruz, 2017, BMC Genomics.

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Neil H. Parker, Dylan M. Marchione, R. Redon, 2020, Science Advances.

PHF8 histone demethylase regulates astrocyte differentiation and function.

C. Verderio, M. Martínez-Balbás, X. Cruz, 2021, Development.

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

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

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

N. Baena, S. Derdak, X. de la Cruz, 2020, bioRxiv.

Novel Mutations Causing C5 Deficiency in Three North-African Families

D. Comas, N. Baena, P. Soler-Palacín, 2016, Journal of Clinical Immunology.

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

Natàlia Padilla, C. Riera, Casandra Riera, 2016, Human mutation.

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

B. Franke, M. Soler Artigas, C. Sánchez-Mora, 2018, Neuropsychopharmacology.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Ellen F. Macnamara, Theodore G. Drivas, J. Constantino, 2023, Science advances.

FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis

F. Casals, X. de la Cruz, R. Colobran, 2020, Frontiers in Immunology.

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

H. Hakonarson, D. Reinberg, G. Ming, 2023, Nature communications.

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

X. de la Cruz, Elena Álvarez de la Campa, N. Padilla, 2017, BMC Genomics.

Choosing Variant Interpretation Tools for Clinical Applications: Context Matters

X. de la Cruz, C. Riera, L. Feliubadaló, 2022, bioRxiv.