| A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis S Benito-Sanz, NS Thomas, C Huber, DG del Blanco, M Aza-Carmona, ... The American Journal of Human Genetics 77 (4), 533-544, 2005 | 157 | 2005 |
| Clinical and Molecular Evaluation of SHOX/PAR1 Duplications in Léri-Weill Dyschondrosteosis (LWD) and Idiopathic Short Stature (ISS) S Benito-Sanz, E Barroso, D Heine-Suñer, A Hisado-Oliva, V Romanelli, ... The Journal of Clinical Endocrinology & Metabolism 96 (2), E404-E412, 2011 | 87 | 2011 |
| CDKN1C (p57Kip2) analysis in Beckwith–Wiedemann syndrome (BWS) patients: Genotype–phenotype correlations, novel mutations, and polymorphisms V Romanelli, A Belinchon, S Benito‐Sanz, V Martínez‐Glez, ... American Journal of Medical Genetics Part A 152 (6), 1390-1397, 2010 | 82 | 2010 |
| Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer S Benito-Sanz, JL Royo, E Barroso, B Paumard-Hernández, ... Journal of medical genetics 49 (7), 442-450, 2012 | 79 | 2012 |
| Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis A Hisado-Oliva, AI Garre-Vázquez, F Santaolalla-Caballero, A Belinchón, ... The Journal of Clinical Endocrinology & Metabolism 100 (8), E1133-E1142, 2015 | 77 | 2015 |
| Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature A Hisado-Oliva, A Ruzafa-Martin, L Sentchordi, MFA Funari, ... Genetics in Medicine 20 (1), 91-97, 2018 | 75 | 2018 |
| Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants B Paumard-Hernández, J Berges-Soria, E Barroso, CI Rivera-Pedroza, ... European Journal of Human Genetics 23 (7), 907-914, 2015 | 69 | 2015 |
| SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer M Aza-Carmona, DJ Shears, P Yuste-Checa, V Barca-Tierno, ... Human molecular genetics 20 (8), 1547-1559, 2011 | 68 | 2011 |
| Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature S Benito-Sanz, M Aza-Carmona, A Rodríguez-Estevez, I Rica-Etxebarria, ... European journal of human genetics 20 (1), 125-127, 2012 | 56 | 2012 |
| PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri‐Weill dyschondrosteosis (LWD) probands S Benito‐Sanz, D Gorbenko Del Blanco, M Aza‐Carmona, LF Magano, ... Human mutation 27 (10), 1062-1062, 2006 | 55 | 2006 |
| Heterozygous aggrecan variants are associated with short stature and brachydactyly: description of 16 probands and a review of the literature L Sentchordi‐Montané, M Aza‐Carmona, S Benito‐Sanz, ... Clinical endocrinology 88 (6), 820-829, 2018 | 44 | 2018 |
| Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots S Benito-Sanz, DG del Blanco, C Huber, NS Thomas, M Aza-Carmona, ... The American Journal of Human Genetics 79 (2), 409-414, 2006 | 42 | 2006 |
| A New Overgrowth Syndrome is due to Mutations in RNF125 J Tenorio, A Mansilla, M Valencia, V Martínez‐Glez, V Romanelli, P Arias, ... Human mutation 35 (12), 1436-1441, 2014 | 39 | 2014 |
| Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape H Verdin, A Fernández-Miñán, S Benito-Sanz, S Janssens, B Callewaert, ... Scientific reports 5 (1), 17667, 2015 | 29 | 2015 |
| NPPB and ACAN, Two Novel SHOX2 Transcription Targets Implicated in Skeletal Development M Aza-Carmona, V Barca-Tierno, A Hisado-Oliva, A Belinchon, ... PLoS One 9 (1), e83104, 2014 | 27 | 2014 |
| Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene I Skuplik, S Benito-Sanz, JM Rosin, BE Bobick, KE Heath, J Cobb Scientific Reports 8 (1), 14292, 2018 | 26 | 2018 |
| Compound heterozygosity of SHOX‐encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD) Á Campos‐Barros, S Benito‐Sanz, JL Ross, AR Zinn, KE Heath American Journal of Medical Genetics Part A 143 (9), 933-938, 2007 | 25 | 2007 |
| Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype S Parween, M Fernández-Cancio, S Benito-Sanz, N Camats, ... The Journal of Clinical Endocrinology & Metabolism 105 (4), e1272-e1290, 2020 | 22 | 2020 |
| High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies L Sentchordi-Montané, S Benito-Sanz, M Aza-Carmona, F Díaz-González, ... European Journal of Endocrinology 185 (5), 691-705, 2021 | 17 | 2021 |
| Identification of a Gypsy SHOX mutation (p. A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia V Barca-Tierno, M Aza-Carmona, E Barroso, D Heine-Suner, D Azmanov, ... European journal of human genetics 19 (12), 1218-1225, 2011 | 16 | 2011 |
