| Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. F Brioude, JM Kalish, A Mussa, AC Foster, J Bliek, GB Ferrero, ... Nat Rev Endocrinol 14 (4), 229-249, 2018 | 487* | 2018 |
| 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 | 242 | 2012 |
| Epigenome-wide association study of COVID-19 severity with respiratory failure MC de Moura, V Davalos, L Planas-Serra, D Alvarez-Errico, C Arribas, ... EBioMedicine 66, 2021 | 106 | 2021 |
| Simpson-Golabi-Behmel syndrome types I and II J Tenorio, P Arias, V Martínez-Glez, F Santos, S García-Miñaur, J Nevado, ... Orphanet Journal of Rare Diseases 9, 1-8, 2014 | 94 | 2014 |
| A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies J Tenorio, P Navas, E Barrios, L Fernández, J Nevado, CA Quezada, ... Clinical Genetics 88 (6), 579-583, 2015 | 76 | 2015 |
| Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults L Riancho-Zarrabeitia, M García-Unzueta, JA Tenorio, JA Gómez-Gerique, ... European journal of internal medicine 29, 40-45, 2016 | 73 | 2016 |
| Further delineation of Malan syndrome M Priolo, D Schanze, K Tatton‐Brown, PA Mulder, J Tenorio, K Kooblall, ... Human mutation 39 (9), 1226-1237, 2018 | 67 | 2018 |
| Molecular analysis of BMPR2, TBX4, and KCNK3 and genotype-phenotype correlations in Spanish patients and families with idiopathic and hereditary pulmonary arterial hypertension P Navas, J Tenorio, CA Quezada, E Barrios, G Gordo, P Arias, ... Revista Española de Cardiología (English Edition) 69 (11), 1011-1019, 2016 | 61 | 2016 |
| Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males M Baldassarri, N Picchiotti, F Fava, C Fallerini, E Benetti, S Daga, ... EBioMedicine 65, 2021 | 60 | 2021 |
| Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling T Eggermann, F Brioude, S Russo, MP Lombardi, J Bliek, ER Maher, ... European journal of human genetics 24 (6), 784-793, 2016 | 60 | 2016 |
| 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 | 55 | 2018 |
| A six-attribute classification of geneticmosaicism V Martínez-Glez, J Tenorio, J Nevado, G Gordo, L Rodríguez-Laguna, ... Genetics in Medicine 22 (11), 1743-1757, 2020 | 46 | 2020 |
| Clinical implementation of pharmacogenetic testing in a hospital of the Spanish National Health System: strategy and experience over 3 years AM Borobia, I Dapia, HY Tong, P Arias, M Muñoz, J Tenorio, R Hernández, ... Clinical and translational science 11 (2), 189-199, 2018 | 46 | 2018 |
| Clinical and molecular analyses of Beckwith–Wiedemann syndrome: comparison between spontaneous conception and assisted reproduction techniques J Tenorio, V Romanelli, A Martin‐Trujillo, GM Fernández, M Segovia, ... American journal of medical genetics Part A 170 (10), 2740-2749, 2016 | 46 | 2016 |
| Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia J Tenorio, I Álvarez, L Riancho‐Zarrabeitia, GÁ Martos‐Moreno, ... American Journal of Medical Genetics Part A 173 (3), 601-610, 2017 | 45 | 2017 |
| The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances A Monteagudo-Sánchez, JR Hernandez Mora, C Simon, A Burton, ... Nucleic acids research 48 (20), 11394-11407, 2020 | 42 | 2020 |
| Germline and mosaic variants in PRKACA and PRKACB cause a multiple congenital malformation syndrome A Palencia-Campos, PC Aoto, EMF Machal, A Rivera-Barahona, ... The American Journal of Human Genetics 107 (5), 977-988, 2020 | 41 | 2020 |
| 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 | 37 | 2014 |
| Abnormal bone turnover in individuals with low serum alkaline phosphatase L López-Delgado, L Riancho-Zarrabeitia, MT García-Unzueta, JA Tenorio, ... Osteoporosis International 29, 2147-2150, 2018 | 36 | 2018 |
| PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13. 3 microdeletion/microduplication syndrome J Nevado, JA Rosenfeld, R Mena, M Palomares-Bralo, E Vallespín, ... European Journal of Human Genetics 23 (12), 1615-1626, 2015 | 36 | 2015 |
