Agustí Rodríguez‐Palmero

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

<i>UFM1</i> founder mutation in the Roma population causes recessive variant of H-ABC

Eline M. Hamilton, Enrico Bertini, Luba Kalaydjieva et al. · Neurology · 2017 · 55 citations · Full text

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

Irit Hochberg, Leigh Demain, Julie Richer et al. · The American Journal of Human Genetics · 2021 · 54 citations · Full text

Genetics, Molecular Biology, Pathology +18

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

Biallelic<i>PI4KA</i>variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

Edgard Verdura, Agustí Rodríguez‐Palmero, Valentina Vélez-Santamaría et al. · Brain · 2021 · 47 citations · Full text