| Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes G Ribas, A Gonzalez-Neira, A Salas, RL Milne, A Vega, B Carracedo, ... Human genetics 118, 669-679, 2006 | 90 | 2006 |
| 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 | 81 | 2011 |
| Genetic analysis of the vitamin D receptor gene in two epithelial cancers: melanoma and breast cancer case-control studies E Barroso, LP Fernandez, RL Milne, G Pita, E Sendagorta, U Floristan, ... BMC cancer 8, 1-8, 2008 | 79 | 2008 |
| 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 | 76 | 2012 |
| 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 | 60 | 2015 |
| FANCD2 associated with sporadic breast cancer risk E Barroso, RL Milne, LP Fernandez, P Zamora, JI Arias, J Benítez, ... Carcinogenesis 27 (9), 1930-1937, 2006 | 56 | 2006 |
| mTOR mutations in Smith‐Kingsmore syndrome: Four additional patients and a review G Gordo, J Tenorio, P Arias, F Santos‐Simarro, S García‐Miñaur, ... Clinical genetics 93 (4), 762-775, 2018 | 53 | 2018 |
| The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features E Barroso, G Pita, JI Arias, P Menendez, P Zamora, M Blanco, J Benitez, ... Breast cancer research and treatment 118, 655-660, 2009 | 46 | 2009 |
| Estrogen and progesterone receptor gene polymorphisms and sporadic breast cancer risk: A Spanish case‐control study LP Fernandez, RL Milne, E Barroso, M Cuadros, JI Arias, A Ruibal, ... International journal of cancer 119 (2), 467-471, 2006 | 41 | 2006 |
| The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome S Vidal, N Brandi, P Pacheco, J Maynou, G Fernandez, C Xiol, ... European Journal of Paediatric Neurology 23 (4), 609-620, 2019 | 32 | 2019 |
| Analysis of endocannabinoid signaling elements and related proteins in lymphocytes of patients with Dravet syndrome M Rubio, S Valdeolivas, F Piscitelli, R Verde, V Satta, E Barroso, ... Pharmacology research & perspectives 4 (2), e00220, 2016 | 17 | 2016 |
| Mild isolated craniosynostosis due to a novel FGFR3 mutation, p. Ala334Thr E Barroso, V Pérez‐Carrizosa, I García‐Recuero, MJ Glucksman, ... American Journal of Medical Genetics Part A 155 (12), 3050-3053, 2011 | 16 | 2011 |
| 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 |
| Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B N Darras, TK Ha, S Rego, PM Martin, E Barroso, AM Slavotinek, MR Cilio American Journal of Medical Genetics Part A 179 (11), 2190-2195, 2019 | 14 | 2019 |
| Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic … E Barroso, J Berges-Soria, S Benito-Sanz, CI Rivera-Pedroza, ... Am. J. Med. Genet. A 167, 902-906, 2015 | 13 | 2015 |
| Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri–Weill dyschondrosteosis (LWD) E Barroso, S Benito-Sanz, A Belinchón, P Yuste-Checa, R Gracia, ... European journal of medical genetics 53 (4), 204-207, 2010 | 9 | 2010 |
| SHOX deficiency in Argentinean cohort: long-term auxological follow-up and a family's new mutation M Del Pino, M Aza-Carmona, D Medino-Martín, A Gomez, KE Heath, ... Journal of Pediatric Genetics 8 (03), 123-132, 2019 | 5 | 2019 |
| Achondroplasia with 47, XXY karyotype: a case report of the neonatal diagnosis of an extremely unusual association P Ros-Pérez, FJ Regidor, E Colino, C Martínez-Payo, E Barroso, ... BMC pediatrics 12, 1-4, 2012 | 5 | 2012 |
| Use of epilepsy gene panels for early diagnosis of epilepsy in children 2-4 years of age: expert considerations on current and future practices in Europe E Izzo, E Barroso, M Bailey, S Griesbach, L Jenkins, E Le Guern, ... EUROPEAN JOURNAL OF HUMAN GENETICS 26, 651-651, 2018 | 1 | 2018 |
| Possible dysregulation of the endocannabinoid system in a cohort of patients with Dravet syndrome V Satta, M Rubio, S Valdeolivas, F Piscitelli, R Verde, E Barroso, ... Eur Neuropsychopharmacol 26, S251, 2016 | 1 | 2016 |
