Jair Tenorio

The Human Phenotype Ontology in 2024: phenotypes around the world

Michael Gargano, Nicolas Matentzoglu, Ben Coleman et al. · Nucleic Acids Research · 2023 · 311 citations · Full text

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

Víctor Martínez‐Glez, José A. Caparrós‐Martín, Mona Aglan et al. · Human Mutation · 2011 · 213 citations · Full text

Sclerostin, Genetics, Bone Repair +20

Epigenome-wide association study of COVID-19 severity with respiratory failure

Manuel Castro de Moura, Verónica Dávalos, Laura Planas‐Serra et al. · EBioMedicine · 2021 · 146 citations · Full text

Respiratory Diseases, Covid-19 Pandemic, Infectious Respiratory Disease +7

Further delineation of Malan syndrome

Manuela Priolo, Denny Schanze, Katrin Tatton-Brown et al. · Human Mutation · 2018 · 75 citations · Full text

Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults

Leyre Riancho‐Zarrabeitia, Jair Tenorio, J.A. Gómez-Gerique et al. · European Journal of Internal Medicine · 2016 · 73 citations · Full text

Biochemistry, Inherited Metabolic Disease, Physiology +5