| Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta P Lapunzina, M Aglan, S Temtamy, JA Caparrós-Martín, M Valencia, ... The American Journal of Human Genetics 87 (1), 110-114, 2010 | 344 | 2010 |
| Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta V Martínez‐Glez, M Valencia, JA Caparrós‐Martín, M Aglan, S Temtamy, ... Human mutation 33 (2), 343-350, 2012 | 249 | 2012 |
| The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia JA Caparrós-Martín, M Valencia, E Reytor, M Pacheco, M Fernandez, ... Human molecular genetics 22 (1), 124-139, 2013 | 124 | 2013 |
| Mutations in PLOD2 cause autosomal‐recessive connective tissue disorders within the Bruck syndrome—Osteogenesis imperfecta phenotypic spectrum MT Puig‐Hervás, S Temtamy, M Aglan, M Valencia, V Martínez‐Glez, ... Human mutation 33 (10), 1444-1449, 2012 | 117 | 2012 |
| Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling M Valencia, P Lapunzina, D Lim, R Zannolli, D Bartholdi, B Wollnik, ... Human mutation 30 (12), 1667-1675, 2009 | 64 | 2009 |
| Long interspersed nuclear element‐1 (LINE1)‐mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis–van Creveld syndrome with borderline intelligence SA Temtamy, MS Aglan, M Valencia, G Cocchi, M Pacheco, AM Ashour, ... Human mutation 29 (7), 931-938, 2008 | 62 | 2008 |
| Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium JA Caparrós-Martín, A De Luca, F Cartault, M Aglan, S Temtamy, ... Human molecular genetics 24 (14), 4126-4137, 2015 | 61 | 2015 |
| Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype–phenotype correlations JA Caparrós‐Martin, M Valencia, V Pulido, V Martínez‐Glez, ... American Journal of Medical Genetics Part A 161 (6), 1354-1369, 2013 | 59 | 2013 |
| Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta JA Caparros‐Martin, MS Aglan, S Temtamy, GA Otaify, M Valencia, ... Molecular genetics & genomic medicine 5 (1), 28-39, 2017 | 54 | 2017 |
| Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta E Guillén‐Navarro, MJ Ballesta‐Martínez, M Valencia, AM Bueno, ... American journal of medical genetics Part A 164 (5), 1136-1142, 2014 | 53 | 2014 |
| Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base M Pacheco, M Valencia, JA Caparrós-Martín, F Mulero, JA Goodship, ... Bone 50 (1), 28-41, 2012 | 49 | 2012 |
| Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects M Valencia, JA Caparrós‐Martin, MS Sirerol‐Piquer, JM García‐Verdugo, ... American journal of medical genetics Part A 164 (5), 1143-1150, 2014 | 41 | 2014 |
| 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 |
| CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative J Luque, I Mendes, B Gomez, B Morte, M López de Heredia, E Herreras, ... Clinical Genetics 101 (5-6), 481-493, 2022 | 13 | 2022 |
| Phenotypic Variation in patients with homozygous c. 1678G> T mutation in EVC Gene: report of two mexican families with ellis-van creveld syndrome M Ibarra-Ramirez, LD Campos-Acevedo, J Lugo-Trampe, ... The American Journal of Case Reports 18, 1325, 2017 | 7 | 2017 |
| Ellis‐van Creveld Syndrome: Mutations Uncovered in Lebanese Families M Valencia, L Tabet, N Yazbeck, A Araj, VL Ruiz-Perez, K Charaffedine, ... Case Reports in Genetics 2015 (1), 528481, 2015 | 5 | 2015 |
| OSX/SP7 mutations and osteogenesis imperfecta JA Caparrós-Martín, M Aglan, S Temtamy, V Martínez-Glez, M Valencia, ... Osteogenesis Imperfecta, 173-179, 2014 | 2 | 2014 |
| Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis U Altunoglu, A Palencia-Campos, N Güneş, GT Turgut, J Nevado, ... Journal of Medical Genetics 61 (7), 633-644, 2024 | 1 | 2024 |
| BMP1 mutations in autosomal recessive osteogenesis imperfecta JA Caparrós-Martín, V Martínez-Glez, M Valencia, M Aglan, J Tenorio, ... Osteogenesis imperfecta, 181-186, 2014 | 1 | 2014 |
| Estudio de las bases moleculares de los síndromes de Ellis-van Creveld y Weyers Acrofacial Dysostosis y análisis del papel de Evc en la placa de crecimiento M Valencia Universidad Autónoma de Madrid, 2012 | 1 | 2012 |
