Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia XS Puente, M Pinyol, V Quesada, L Conde, GR Ordóñez, N Villamor, ... Nature 475 (7354), 101-105, 2011 | 1875 | 2011 |
Genomic insights into the Ixodes scapularis tick vector of Lyme disease M Gulia-Nuss, AB Nuss, JM Meyer, DE Sonenshine, RM Roe, ... Nature communications 7 (1), 10507, 2016 | 496 | 2016 |
Dynamic functional connectivity reveals altered variability in functional connectivity among patients with major depressive disorder DG Demirtaş M, Tornador C, Falcón C, López-Solà M, Hernández-Ribas R, Pujol ... Hum Brain Mapping, 2016 | 202* | 2016 |
Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR D Trujillano, MD Ramos, J González, C Tornador, F Sotillo, G Escaramis, ... Journal of Medical Genetics 50 (7), 455-462, 2013 | 50 | 2013 |
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing D Trujillano, B Perez, J González, C Tornador, R Navarrete, G Escaramis, ... European Journal of Human Genetics 22 (4), 528-534, 2014 | 47 | 2014 |
Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic analysis L Bassaganyas, S Beà, G Escaramis, C Tornador, I Salaverria, L Zapata, ... Leukemia 27 (12), 2376-2379, 2013 | 47 | 2013 |
Increased methylation at an unexplored glucocorticoid responsive element within exon 1D of NR3C1 gene is related to anxious-depressive disorders and decreased hippocampal … H Palma-Gudiel, A Córdova-Palomera, C Tornador, C Falcón, N Bargalló, ... European Neuropsychopharmacology 28 (5), 579-588, 2018 | 31 | 2018 |
Kin-Driver: a database of driver mutations in protein kinases FL Simonetti, C Tornador, N Nabau-Moreto, MA Molina-Vila, ... Database 2014, bau104, 2014 | 29 | 2014 |
L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia—Report of New Cases B Cadenas, J Fita-Torró, M Bermúdez-Cortés, I Hernandez-Rodriguez, ... Pharmaceuticals 12 (1), 17, 2019 | 28 | 2019 |
PeSV-Fisher: identification of somatic and non-somatic structural variants using next generation sequencing data G Escaramís, C Tornador, L Bassaganyas, R Rabionet, JMC Tubio, ... PLoS One 8 (5), e63377, 2013 | 28 | 2013 |
Altered resting-state whole-brain functional networks of neonates with intrauterine growth restriction D Batalle, E Muñoz-Moreno, C Tornador, N Bargallo, G Deco, E Eixarch, ... Cortex 77, 119-131, 2016 | 27 | 2016 |
Environmental factors linked to depression vulnerability are associated with altered cerebellar resting-state synchronization A Cordova Palomera, C Tornador, C Falcon, N Bargallo, P Brambilla, ... Scientific Reports, 2016 | 27 | 2016 |
Activating mutations cluster in the “molecular brake” regions of protein kinases and do not associate with conserved or catalytic residues MA Molina‐Vila, N Nabau‐Moretó, C Tornador, AJ Sabnis, R Rosell, ... Human mutation 35 (3), 318-328, 2014 | 23 | 2014 |
Evolutionary dynamics of the Ty3/gypsy LTR retrotransposons in the genome of Anopheles gambiae JMC Tubio, M Tojo, L Bassaganyas, G Escaramis, IV Sharakhov, ... PLoS One 6 (1), e16328, 2011 | 20 | 2011 |
Altered amygdalar resting‐state connectivity in depression is explained by both genes and environment A Córdova‐Palomera, C Tornador, C Falcon, N Bargallo, I Nenadic, ... Human Brain Mapping 36 (10), 3761-3776, 2015 | 15 | 2015 |
Hereditary hyperferritinemia cataract syndrome: ferritin L gene and physiopathology behind the disease—report of new cases F Celma Nos, G Hernández, X Ferrer-Cortès, I Hernandez-Rodriguez, ... International Journal of Molecular Sciences 22 (11), 5451, 2021 | 13 | 2021 |
New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis G Hernández, X Ferrer-Cortès, V Venturi, M Musri, MF Pilquil, PMM Torres, ... Genes 12 (12), 1980, 2021 | 9 | 2021 |
CoDysAn: a telemedicine tool to improve awareness and diagnosis for patients with congenital dyserythropoietic anemia C Tornador, E Sánchez-Prados, B Cadenas, R Russo, V Venturi, I Andolfo, ... Frontiers in Physiology 10, 459618, 2019 | 6 | 2019 |
New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation L Romero-Cortadellas, G Hernández, X Ferrer-Cortès, L Zalba-Jadraque, ... International journal of molecular sciences 23 (8), 4406, 2022 | 5 | 2022 |
Autosomal recessive congenital dyserythropoietic anemia type III is caused by mutations in the centralspindlin RACGAP1 component L Romero-Cortadellas, G Hernández, X Ferrer-Cortès, V Venturi, ... Blood 138 (Supplement 1), 847-847, 2021 | 5 | 2021 |