| Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture K Estrada, U Styrkarsdottir, E Evangelou, YH Hsu, EL Duncan, EE Ntzani, ... Nature genetics 44 (5), 491-501, 2012 | 1289 | 2012 |
| MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones L De-Ugarte, G Yoskovitz, S Balcells, R Güerri-Fernández, ... BMC medical genomics 8, 1-11, 2016 | 99 | 2016 |
| GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates N Roca-Ayats, S Balcells, N Garcia-Giralt, M Falco-Mascaro, ... New England Journal of Medicine 376 (18), 1794-1795, 2017 | 62 | 2017 |
| Effect of IL‐1β, PGE2, and TGF‐β1 on the expression of OPG and RANKL in normal and osteoporotic primary human osteoblasts S Jurado, N Garcia‐Giralt, A Díez‐Pérez, P Esbrit, G Yoskovitz, L Agueda, ... Journal of cellular biochemistry 110 (2), 304-310, 2010 | 61 | 2010 |
| Assessment of gene‐by‐sex interaction effect on bone mineral density CT Liu, K Estrada, LM Yerges‐Armstrong, N Amin, E Evangelou, G Li, ... Journal of Bone and Mineral Research 27 (10), 2051-2064, 2012 | 56 | 2012 |
| Polymorphisms of genes involved in homocysteine metabolism in preeclampsia and in uncomplicated pregnancies E Also-Rallo, E Lopez-Quesada, R Urreizti, MA Vilaseca, JM Lailla, ... European Journal of Obstetrics & Gynecology and Reproductive Biology 120 (1 …, 2005 | 53 | 2005 |
| Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas P Sarrión, A Sangorrin, R Urreizti, A Delgado, R Artuch, L Martorell, ... Scientific Reports 3 (1), 1346, 2013 | 49 | 2013 |
| Analysis of three functional polymorphisms in relation to osteoporosis phenotypes: replication in a Spanish cohort L Agueda, R Urreizti, M Bustamante, S Jurado, N Garcia-Giralt, ... Calcified tissue international 87, 14-24, 2010 | 42 | 2010 |
| The p. T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America R Urreizti, C Asteggiano, M Bermudez, A Córdoba, M Szlago, C Grosso, ... Journal of human genetics 51 (4), 305-313, 2006 | 40 | 2006 |
| A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: similarities between Schaaf-Yang and Opitz-C syndromes R Urreizti, AM Cueto-Gonzalez, H Franco-Valls, S Mort-Farre, ... Scientific reports 7 (1), 1-7, 2017 | 37 | 2017 |
| Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S R Urreizti, S Balcells, M Rodés, L Vilarinho, A Baldellou, M Luz Couce, ... Human Mutation 22 (1), 103-103, 2003 | 35 | 2003 |
| COL1A1 haplotypes and hip fracture R Urreizti, N Garcia‐Giralt, JA Riancho, J González‐Macías, S Civit, ... Journal of bone and mineral research 27 (4), 950-953, 2012 | 31 | 2012 |
| Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency R Urreizti, AA Moya‐García, A Pino‐Ángeles, M Cozar, A Langkilde, ... Clinical genetics 78 (5), 441-448, 2010 | 31 | 2010 |
| Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder S Kour, DS Rajan, TR Fortuna, EN Anderson, C Ward, Y Lee, S Lee, ... Nature communications 12 (1), 2558, 2021 | 28 | 2021 |
| Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene L Marti‐Sanchez, H Baide‐Mairena, A Marcé‐Grau, R Pons, A Skouma, ... Journal of Inherited Metabolic Disease 44 (2), 401-414, 2021 | 28 | 2021 |
| Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients M Cozar, R Urreizti, L Vilarinho, C Grosso, R Dodelson de Kremer, ... Human Mutation 32 (7), 835-842, 2011 | 28 | 2011 |
| High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia M Bermúdez, N Frank, J Bernal, R Urreizti, I Briceño, B Merinero, ... Human mutation 27 (3), 296-296, 2006 | 26 | 2006 |
| Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome À García-Cazorla, E Verdura, N Juliá-Palacios, EN Anderson, ... Acta neuropathologica 140, 971-975, 2020 | 25 | 2020 |
| Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 L Castilla-Vallmanya, KK Selmer, C Dimartino, R Rabionet, ... Genetics in Medicine 22 (7), 1215-1226, 2020 | 25 | 2020 |
| Polymorphisms and haplotypes across the osteoprotegerin gene associated with bone mineral density and osteoporotic fractures S Jurado, X Nogués, L Agueda, N Garcia-Giralt, R Urreizti, G Yoskovitz, ... Osteoporosis international 21, 287-296, 2010 | 25 | 2010 |
