Víctor Martínez‐Glez

The Human Phenotype Ontology in 2024: phenotypes around the world

Michael Gargano, Nicolas Matentzoglu, Ben Coleman et al. · Nucleic Acids Research · 2023 · 375 citations · Full text

Medicine, Biomedical Informatics, Health Informatics +15

Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta

Pablo Lapunzina, Mona Aglan, Samia A. Temtamy et al. · The American Journal of Human Genetics · 2010 · 289 citations · Full text

Medicine, Genetics, Molecular Genetics +13

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 · 216 citations

Life Sciences, Genetics, Molecular Genetics +17

Somatic activating mutations in <i>PIK3CA</i> cause generalized lymphatic anomaly

Lara Rodríguez‐Laguna, Noelia Agrá, Gloria Oliva-Molina et al. · The Journal of Experimental Medicine · 2018 · 149 citations · Full text

Medicine, Molecular Genetics, Molecular Medicine +15

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

Maria Trinidad Puig-Hervás, Samia A. Temtamy, Mona Aglan et al. · Human Mutation · 2012 · 98 citations

Life Sciences, Genetics, Molecular Genetics +14