Pilar Tirado

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

Julián Nevado, Sixto García‐Miñáur, María Palomares‐Bralo et al. · Frontiers in Genetics · 2022 · 54 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

Sanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum et al. · The American Journal of Human Genetics · 2022 · 36 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations

Montesclaros Hortigüela, Ana Fernández‐Marmiesse, Verónica Cantarín et al. · Journal of Human Genetics · 2016 · 25 citations

Life Sciences, Genetics, Molecular Genetics +11

A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome activity resulting in microcephaly, psychomotor retardation, and epilepsy

Cristina Rodríguez, Irene Sánchez‐Morán, Sara Álvarez et al. · Journal of Neurochemistry · 2019 · 21 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17