Mélanie Rama

A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience

Mélanie Rama, Claire Duflos, Isabelle Melki et al. · European Journal of Human Genetics · 2018 · 88 citations · Full text

Genetic Diagnosis, Genetic Testing, Decision Tree +12

Gain of function due to increased opening probability by two <i>KCNQ5</i> pore variants causing developmental and epileptic encephalopathy

Mario Nappi, Vincenzo Barrese, Lidia Carotenuto et al. · Proceedings of the National Academy of Sciences · 2022 · 37 citations · Full text

Brain Development, Synaptic Transmission, Neurotransmission +21

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Caroline Nava, Benjamin Cogné, A. Santini et al. · Nature Genetics · 2025 · 26 citations · Full text

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

Thomas Husson, François Lecoquierre, Gaël Nicolas et al. · European Journal of Human Genetics · 2023 · 23 citations · Full text