Mélanie Rama - Concepedia

Author

Mélanie Rama

Also Known As

M. Rama, Melanie Rama, Mélanie Rama, Rama, Melanie

Publications

239

Citations

H-Index

Concepts

All Affiliations

Mélanie Rama is an author at Hospices Civils de Lyon specializing in medicine, genetic testing, and neuroscience.

#	Concept	H-Index	Publications	Citations
1	Medicine	2	2	125
2	Social Sciences	1	1	37
3	Genetic Medicine	1	1	88
4	Molecular Genetics	1	1	88
5	Neurology	1	1	37

Mélanie Rama

Publications

174

Citations

H-Index

Page 1

	Year	Citations
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, European Journal of Human Genetics Genetic DiagnosisGenetic TestingDecision TreeMedicineGenetics	2018	88
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, Proceedings of the National Academy of Sciences Brain DevelopmentSynaptic TransmissionNeurotransmissionDee PatientsSynaptic Signaling	2022	37
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption Caroline Nava, Benjamin Cogné, A. Santini, Nature Genetics	2025	26
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders Thomas Husson, François Lecoquierre, Gaël Nicolas, European Journal of Human Genetics	2023	23

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