| Correlation between SMA type and SMN2 copy number revisited: an analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases M Calucho, S Bernal, L Alías, F March, A Venceslá, FJ Rodríguez-Álvarez, ... Neuromuscular Disorders 28 (3), 208-215, 2018 | 375 | 2018 |
| Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders M Codina-Solà, B Rodríguez-Santiago, A Homs, J Santoyo, M Rigau, ... Molecular autism 6, 1-16, 2015 | 144 | 2015 |
| Evaluating the genetics of common variable immunodeficiency: monogenetic model and beyond G de Valles-Ibáñez, A Esteve-Sole, M Piquer, EA González-Navarro, ... Frontiers in Immunology 9, 636, 2018 | 142 | 2018 |
| Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder I Cusco, A Medrano, B Gener, M Vilardell, F Gallastegui, O Villa, ... Human Molecular Genetics 18 (10), 1795-1804, 2009 | 140 | 2009 |
| New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0 V Alvarez-Iglesias, A Mosquera-Miguel, M Cerezo, B Quintans, ... PloS one 4 (4), e5112, 2009 | 130 | 2009 |
| DNA methylation abnormalities in congenital heart disease C Serra-Juhé, I Cuscó, A Homs, R Flores, N Torán, LA Pérez-Jurado Epigenetics 10 (2), 167-177, 2015 | 126 | 2015 |
| MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study P Makrythanasis, BW Van Bon, M Steehouwer, B Rodríguez‐Santiago, ... Clinical genetics 84 (6), 539-545, 2013 | 119 | 2013 |
| SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings I Cuscó, MJ Barceló, R Rojas–García, I Illa, J Gámez, C Cervera, A Pou, ... Journal of neurology 253, 21-25, 2006 | 116 | 2006 |
| Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency J Argente, R Flores, A Gutiérrez‐Arumí, B Verma, GÁ Martos‐Moreno, ... EMBO molecular medicine 6 (3), 299-306, 2014 | 115 | 2014 |
| Copy number variation at the 7q11. 23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion I Cuscó, R Corominas, M Bayés, R Flores, N Rivera-Brugués, ... Genome research 18 (5), 683-694, 2008 | 102 | 2008 |
| Analysis of two language-related genes in autism: A case–control association study of: FOXP2: And: CNTNAP2 C Toma, A Hervás, B Torrico, N Balmaña, M Salgado, M Maristany, ... Psychiatric genetics 23 (2), 82-85, 2013 | 92 | 2013 |
| A common 16p11. 2 inversion underlies the joint susceptibility to asthma and obesity JR González, A Cáceres, T Esko, I Cuscó, M Puig, M Esnaola, J Reina, ... The American Journal of Human Genetics 94 (3), 361-372, 2014 | 85 | 2014 |
| bigSCale: an analytical framework for big-scale single-cell data G Iacono, E Mereu, A Guillaumet-Adkins, R Corominas, I Cuscó, ... Genome research 28 (6), 878-890, 2018 | 75 | 2018 |
| Detection of novel mutations in the SMN Tudor domain in type I SMA patients I Cusco, MJ Barceló, E Del Río, M Baiget, EF Tizzano Neurology 63 (1), 146-149, 2004 | 66 | 2004 |
| Implication of fetal SMN2 expression in type I SMA pathogenesis: protection or pathological gain of function? C Soler-Botija, I Cuscó, L Caselles, E López, M Baiget, EF Tizzano Journal of Neuropathology & Experimental Neurology 64 (3), 215-223, 2005 | 59 | 2005 |
| Expanding the clinical and genetic spectra of primary immunodeficiency-related disorders with clinical exome sequencing: expected and unexpected findings F Rudilla, C Franco-Jarava, M Martínez-Gallo, M Garcia-Prat, ... Frontiers in immunology 10, 2325, 2019 | 54 | 2019 |
| Neurotransmitter systems and neurotrophic factors in autism: association study of 37 genes suggests involvement of DDC C Toma, A Hervás, N Balmaña, M Salgado, M Maristany, E Vilella, ... The World Journal of Biological Psychiatry 14 (7), 516-527, 2013 | 51 | 2013 |
| A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c. 399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene I Cuscó, E López, C Soler‐Botija, M Jesús Barceló, M Baiget, EF Tizzano Human mutation 22 (2), 136-143, 2003 | 50 | 2003 |
| Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases I Cuscó, M Barceló, E del Rio, Y Martín, C Hernández-Chico, E Bussaglia, ... Human genetics 108, 222-229, 2001 | 50 | 2001 |
| Genetic and epigenetic methylation defects and implication of the ERMN gene in autism spectrum disorders A Homs, M Codina-Solà, B Rodríguez-Santiago, CM Villanueva, D Monk, ... Translational psychiatry 6 (7), e855-e855, 2016 | 48 | 2016 |
