Íñigo Marcos‐Alcalde

MEPSA: minimum energy pathway analysis for energy landscapes

Íñigo Marcos‐Alcalde, Javier Setoaín, Jesús I. Mendieta‐Moreno et al. · Bioinformatics · 2015 · 149 citations · Full text

<i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

María Concepción Gil‐Rodríguez, Matthew A. Deardorff, Morad Ansari et al. · Human Mutation · 2015 · 88 citations · Full text

Lysosomal Storage Disease, Genetics, Immunodeficiencies +25

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes

Ana Latorre, Ángela Ascaso, Laura Trujillano et al. · International Journal of Molecular Sciences · 2020 · 69 citations · Full text

Identify Cornelia, Biometrics, Genetic Epidemiology +23

A nucleotide-controlled conformational switch modulates the activity of eukaryotic IMP dehydrogenases

Rubén M. Buey, David Fernández‐Justel, Íñigo Marcos‐Alcalde et al. · Scientific Reports · 2017 · 59 citations · Full text

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