Marlène Rio - Concepedia

Author

Marlène Rio

Inserm ORCID

Also Known As

Audrey Putoux, John Rendu, M Rio, M Río, M. Rio, M.C. Macário, M.ª Cristina, Mariem Del Rio, Marlene Rio, Marlène Rio

257

Publications

10.3K

Citations

H-Index

154

Concepts

All Affiliations

Inserm Hôpital Necker-Enfants Malades Université Paris Cité Assistance Publique – Hôpitaux de Paris Délégation Paris 5

About

Marlène Rio is an author at Inserm specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	39	68	4.7K
2	Public Health	5	5	450
3	Health Sciences	2	2	186
4	Engineering	1	1	150
5	Natural Sciences	1	1	22

Marlène Rio

133

Publications

Citations

H-Index

Page 1

	Year	Citations
Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i> Yanick J. Crow, Diana Chase, Johanna L. Schmidt, American Journal of Medical Genetics Part A	2015	589
Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction Jeanne Amiel, Marlène Rio, Loïc de Pontual, The American Journal of Human Genetics Autonomic DysfunctionGenetic DisorderGeneticsPathogenesisPitt-hopkins Syndrome	2007	319
Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men* Jean Gekas, F. Thépot, C Turleau, Human Reproduction Family MedicineChromosomal FactorsFertilityCytogeneticsGenetics	2001	295
Key clinical features to identify girls with CDKL5 mutations Nadia Bahi‐Buisson, Juliette Nectoux, Haydeé Rosas‐Vargas, Brain Cdkl5-associated EncephalopathyDevelopmental AnomalyMendelian DisorderKey Clinical FeaturesRefractory Epilepsy	2008	285
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome Caroline Nava, Nadine Hanna, Caroline Michot, Journal of Medical Genetics	2007	253
Comparison of Clinical Presentations and Outcomes Between Patients With <i>TGFBR2</i> and <i>FBN1</i> Mutations in Marfan Syndrome and Related Disorders David Attias, Chantal Stheneur, Carine Roy, Circulation	2009	236
NONO Detects the Nuclear HIV Capsid to Promote cGAS-Mediated Innate Immune Activation Xavier Lahaye, Matteo Gentili, Aymeric Silvin, Cell Primary ImmunodeficiencyNuclear Hiv CapsidHuman RetrovirusInnate Immune SystemImmunology	2018	219
The three stages of epilepsy in patients with <i>CDKL5</i> mutations Nadia Bahi‐Buisson, Anna Kamińska, Nathalie Boddaert, Epilepsia	2008	186
Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental Retardation Florence Molinari, Marlène Rio, Virginia Meskenaïte, Science	2002	184
Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy Florence Molinari, Annick Raas‐Rothschild, Marlène Rio, The American Journal of Human Genetics Neurobiology Of DiseaseMolecular NeuroscienceNeurophysiologyNeurological FunctionNeuroscience	2005	157

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