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 | 49 | 2020 |
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 | 48 | 2019 |
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 | 47 | 2016 |
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 | 43 | 2018 |
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 | 40 | 2019 |
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 | 34 | 2017 |
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 | 24 | 2017 |
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 | 21 | 2017 |
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 | 19 | 2019 |
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 | 17 | 2021 |
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 | 16 | 2019 |
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 | 10 | 2021 |
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 | 10 | 2016 |
The histone demethylase PHF8 regulates astrocyte differentiation and function S Iacobucci, N Padilla, M Gabrielli, C Navarro, M Lombardi, ... Development 148 (12), dev194951, 2021 | 7 | 2021 |
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 | 6 | 2020 |
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 | 6 | 2012 |
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 | 5 | 2023 |
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 | 4 | 2017 |
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 | 3 | 2018 |
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 | 2 | 2023 |