David Gómez‐Andrés

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Sebastian Köhler, Leigh Carmody, Nicole Vasilevsky et al. · Nucleic Acids Research · 2018 · 711 citations · Full text

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

Jorge Alonso‐Pérez, Lidia González‐Quereda, Luca Bello et al. · Brain · 2020 · 74 citations · Full text

Genetic Epidemiology, Human Polymorphism, Pathology +29

Whole‐body muscle magnetic resonance imaging in <i>SEPN1</i>‐related myopathy shows a homogeneous and recognizable pattern

Karolina Hankiewicz, Robert Carlier, Leïla Lazaro et al. · Muscle & Nerve · 2015 · 54 citations

Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes

Jordi Díaz‐Manera, Aída Alejaldre, Laura González et al. · Neuromuscular Disorders · 2015 · 51 citations

Muscle Function, Developmental Biology, Skeletal Muscle +7

DLG4-related synaptopathy: a new rare brain disorder

Agustí Rodríguez‐Palmero, Melissa M. Boerrigter, David Gómez‐Andrés et al. · Genetics in Medicine · 2021 · 48 citations · Full text

Molecular Neuroscience, Corticobasal Degeneration, Neurological Disorder +8