| 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 | 339 | 2010 |
| Mutations in WNT1 cause different forms of bone fragility K Keupp, F Beleggia, H Kayserili, AM Barnes, M Steiner, O Semler, ... The American Journal of Human Genetics 92 (4), 565-574, 2013 | 296 | 2013 |
| 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 | 241 | 2012 |
| Statin therapy causes gut dysbiosis in mice through a PXR-dependent mechanism JA Caparrós-Martín, RR Lareu, JP Ramsay, J Peplies, FJ Reen, ... Microbiome 5, 1-15, 2017 | 149 | 2017 |
| 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 | 122 | 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 | 114 | 2012 |
| The gut microbiome and cardiovascular disease: current knowledge and clinical potential AF Ahmad, G Dwivedi, F O’Gara, J Caparros-Martin, NC Ward American Journal of Physiology-Heart and Circulatory Physiology 317 (5 …, 2019 | 113 | 2019 |
| 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 | 59 | 2015 |
| Isoquercetin and inulin synergistically modulate the gut microbiome to prevent development of the metabolic syndrome in mice fed a high fat diet S Tan, JA Caparros-Martin, VB Matthews, H Koch, F O’Gara, KD Croft, ... Scientific Reports 8 (1), 10100, 2018 | 56 | 2018 |
| 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 | 55 | 2013 |
| HAD hydrolase function unveiled by substrate screening: enzymatic characterization of Arabidopsis thaliana subclass I phosphosugar phosphatase AtSgpp JA Caparrós-Martín, I McCarthy-Suárez, FA Culiáñez-Macià Planta 237, 943-954, 2013 | 54 | 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 | 51 | 2017 |
| 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 | 50 | 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 | 38 | 2014 |
| Rethinking the bile acid/gut microbiome axis in cancer JP Phelan, FJ Reen, JA Caparros-Martin, R O'Connor, F O'Gara Oncotarget 8 (70), 115736, 2017 | 37 | 2017 |
| Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy MC Estañ, E Fernández-Núñez, MS Zaki, MI Esteban, S Donkervoort, ... Nature communications 10 (1), 797, 2019 | 31 | 2019 |
| Phylogenetic and genetic linkage between novel atypical dual-specificity phosphatases from non-metazoan organisms C Romá-Mateo, A Sacristán-Reviriego, NJ Beresford, JA Caparrós-Martín, ... Molecular Genetics and Genomics 285, 341-354, 2011 | 31 | 2011 |
| Arabidopsis thaliana AtGpp1 and AtGpp2: two novel low molecular weight phosphatases involved in plant glycerol metabolism JA Caparrós-Martín, S Reiland, K Köchert, MC Cutanda, ... Plant molecular biology 63, 505-517, 2007 | 26 | 2007 |
| The detection of bile acids in the lungs of paediatric cystic fibrosis patients is associated with altered inflammatory patterns JA Caparrós-Martín, S Flynn, FJ Reen, DF Woods, P Agudelo-Romero, ... Diagnostics 10 (5), 282, 2020 | 21 | 2020 |
| Microbiomic analysis on low abundant respiratory biomass samples; improved recovery of microbial DNA from bronchoalveolar lavage fluid M Saladié, JA Caparrós-Martín, P Agudelo-Romero, PAB Wark, SM Stick, ... Frontiers in microbiology 11, 572504, 2020 | 20 | 2020 |
Samia A.TemtamyProfessor of Human Genetics,National Research CenterVerified email at nrc.com
