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 · 147 citations · Full text

Neurogenomics, Genetics, Genetic Epidemiology +21

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 · 137 citations · Full text

Neurological Disorder, Scn1a Variants Cluster, Therapeutic Implications +18

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 · 121 citations · Full text

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 · 109 citations · Full text

Identification of pathogenic variant enriched regions across genes and gene families

Eduardo Pérez‐Palma, Patrick May, Sumaiya Iqbal et al. · Genome Research · 2019 · 79 citations · Full text