Eduardo Calpena

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome

Georgia Vasileiou, Silvia Vergarajauregui, Sabine Endele et al. · The American Journal of Human Genetics · 2018 · 79 citations · Full text

Disease Mechanism, Genetic Disorder, Genetics +5

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

Geeske M. van Woerden, Melanie Bos, Charlotte de Konink et al. · Human Mutation · 2021 · 63 citations · Full text

Brain Development, Developmental Cognitive Neuroscience, Neurodevelopment +23

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

Alistair T. Pagnamenta, Edoardo Giacopuzzi, John Taylor et al. · Genome Medicine · 2023 · 63 citations · Full text

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

Eduardo Calpena, Alexia Hervieu, Teresa Kaserer et al. · The American Journal of Human Genetics · 2019 · 62 citations · Full text

Syndromic Developmental Disorder, Mediator Activity, Genetics +19

Junctophilin-1 is a modifier gene of GDAP1-related Charcot–Marie–Tooth disease

David Pla‐Martín, Eduardo Calpena, Vincenzo Lupo et al. · Human Molecular Genetics · 2014 · 53 citations · Full text