Eduardo Pérez‐Palma

A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants

Javier A. López-Rivera, Eduardo Pérez‐Palma, Joseph D. Symonds et al. · Brain · 2020 · 159 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The gain of function <i>SCN1A</i> disorder spectrum: novel epilepsy phenotypes and therapeutic implications

Andreas Brunklaus, Tobias Brünger, Tony Feng et al. · Brain · 2022 · 156 citations · Full text

Medicine, Genetics, Neurology +17

Predicting functional effects of missense variants in voltage-gated sodium and calcium channels

Henrike Heyne, David Báez-Nieto, Sumaiya Iqbal et al. · Science Translational Medicine · 2020 · 144 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants

Sumaiya Iqbal, Eduardo Pérez‐Palma, Jakob Berg Jespersen et al. · Proceedings of the National Academy of Sciences · 2020 · 126 citations · Full text

Life Sciences, Genetics, Molecular Biology +15

Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry

Bernabé I. Bustos, Eduardo Pérez‐Palma, Stephan Buch et al. · Scientific Reports · 2019 · 110 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14