Follow
Natàlia Padilla
Natàlia Padilla
VHIR
Verified email at vhir.org
Title
Cited by
Cited by
Year
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
L Bryant, D Li, SG Cox, D Marchione, EF Joiner, K Wilson, K Janssen, ...
Science advances 6 (49), eabc9207, 2020
492020
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 …
C Sánchez-Mora, M Soler Artigas, I Garcia-Martínez, M Pagerols, ...
Neuropsychopharmacology 44 (5), 890-897, 2019
482019
The complementarity between protein‐specific and general pathogenicity predictors for amino acid substitutions
C Riera, N Padilla, X de la Cruz
Human mutation 37 (10), 1013-1024, 2016
472016
Resuscitative endovascular balloon occlusion of the aorta deployed by acute care surgeons in patients with morbidly adherent placenta: a feasible solution for two lives in peril
R Manzano-Nunez, MF Escobar-Vidarte, CP Orlas, JP Herrera-Escobar, ...
World Journal of Emergency Surgery 13, 1-6, 2018
432018
PHF2 histone demethylase prevents DNA damage and genome instability by controlling cell cycle progression of neural progenitors
S Pappa, N Padilla, S Iacobucci, M Vicioso, E Álvarez de la Campa, ...
Proceedings of the National Academy of Sciences 116 (39), 19464-19473, 2019
402019
Elucidating the molecular basis of MSH2‐deficient tumors by combined germline and somatic analysis
GM Vargas‐Parra, M González‐Acosta, BA Thompson, C Gómez, ...
International journal of cancer 141 (7), 1365-1380, 2017
342017
SeMPI: a genome-based secondary metabolite prediction and identification web server
PF Zierep, N Padilla, DG Yonchev, KK Telukunta, D Klementz, S Günther
Nucleic Acids Research 45 (W1), W64-W71, 2017
242017
Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence
EÁ de la Campa, N Padilla, X de la Cruz
BMC genomics 18, 1-14, 2017
212017
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants
MS Cline, G Babbi, S Bonache, Y Cao, R Casadio, X de la Cruz, O Díez, ...
Human Mutation 40 (9), 1546-1556, 2019
192019
New genes involved in Angelman syndrome-like: expanding the genetic spectrum
C Aguilera, E Gabau, A Ramirez-Mallafré, C Brun-Gasca, ...
PLoS One 16 (10), e0258766, 2021
172021
BRCA1‐ and BRCA2‐specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge
N Padilla, A Moles‐Fernández, C Riera, G Montalban, S Özkan, L Ootes, ...
Human mutation 40 (9), 1593-1611, 2019
162019
The computational approach to variant interpretation: principles, results, and applicability
S Özkan, N Padilla, A Moles-Fernández, O Diez, S Gutiérrez-Enríquez, ...
Clinical DNA variant interpretation, 89-119, 2021
102021
Novel mutations causing C5 deficiency in three North-African families
R Colobran, C Franco-Jarava, A Martín-Nalda, N Baena, E Gabau, ...
Journal of clinical immunology 36, 388-396, 2016
102016
The histone demethylase PHF8 regulates astrocyte differentiation and function
S Iacobucci, N Padilla, M Gabrielli, C Navarro, M Lombardi, ...
Development 148 (12), dev194951, 2021
72021
FHLdb: a comprehensive database on the molecular basis of familial hemophagocytic lymphohistiocytosis
L Viñas-Giménez, N Padilla, L Batlle-Masó, F Casals, JG Rivière, ...
Frontiers in immunology 11, 505647, 2020
62020
Estrategia Plan Invierno 2011: Hospital Central de las Fuerzas Armadas
M Ospitaleche, N Padilla, JP de Freitas, C Pinchak
Archivos de Pediatría del Uruguay 83 (3), 195-202, 2012
62012
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
SE Sheppard, L Bryant, RN Wickramasekara, C Vaccaro, B Robertson, ...
Science advances 9 (10), eade1463, 2023
52023
Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria
M González-Acosta, J Del Valle, M Navarro, BA Thompson, S Iglesias, ...
Familial cancer 16, 501-507, 2017
42017
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants
S Brasil, F Leal, A Vega, R Navarrete, MJ Ecay, LR Desviat, C Riera, ...
Orphanet Journal of Rare Diseases 13, 1-12, 2018
32018
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
C Gracia-Diaz, Y Zhou, Q Yang, R Maroofian, P Espana-Bonilla, CH Lee, ...
Nature communications 14 (1), 4109, 2023
22023
The system can't perform the operation now. Try again later.
Articles 1–20