Maria Stella Vari - Concepedia

Author

Maria Stella Vari

Also Known As

Andreas van Baalen, Antonietta Coppola, Francesca Madia, Hiroyasu Ishikura, M.S. Vari, Maria S Vari, Maria S. Vari, Maria Stella Vari, Maria Vari, Pauls Auce

Publications

3.4K

Citations

H-Index

Concepts

All Affiliations

University of Genoa Istituto Giannina Gaslini Istituti di Ricovero e Cura a Carattere Scientifico Sapienza University of Rome University of L'Aquila

About

Maria Stella Vari is an author at University of Genoa specializing in medicine, genetics, and neurogenetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	14	15	1.2K
2	Health Sciences	2	2	69
3	Natural Sciences	2	2	504
4	Biochemistry	2	2	63
5	Public Health	1	1	58

Maria Stella Vari

Publications

1.8K

Citations

H-Index

Page 1

	Year	Citations
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies Bassel Abou‐Khalil, Pauls Auce, Andreja Avberšek, Nature Communications Epilepsy TherapiesGeneticsGenetic EpidemiologyMolecular GeneticsMonogenic Epilepsy Genes	2018	493
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott, The American Journal of Human Genetics Allelic VariantUltra-rare Genetic VariationWhole-exome Sequencing StudyGeneticsGenetic Disorder	2019	298
Neurologic phenotypes associated with <i>COL4A1</i> / <i>2</i> mutations Sara Zagaglia, C. Selch, Jelena Radić Nišević, Neurology	2018	140
Confirmation of mutations in <i>PROSC</i> as a novel cause of vitamin B<sub> <sub>6</sub> </sub>-dependent epilepsy Barbara Plecko, Markus Zweier, Anaïs Begemann, Journal of Medical Genetics	2017	78
Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies—An Italian observational multicenter study Paola De Liso, Federico Vigevano, Nicola Specchio, Epilepsy Research PediatricsAnesthesiology	2016	66
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, The American Journal of Human Genetics Mendelian DisorderFemale InfertilityWhole-exome Sequencing StudyGenetic DisorderGenetics	2021	58
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females Marcello Scala, Annalaura Torella, Mariasavina Severino, European Journal of Human Genetics Neuro-oncologyDevelopmental BiologyBrain DevelopmentDdx3x VariantsMedicine	2019	55
Impact and management of drooling in children with neurological disorders: an Italian Delphi consensus Antonella Riva, Elisabetta Amadori, Maria Stella Vari, The Italian Journal of Pediatrics/Italian journal of pediatrics	2022	53
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet Gerarda Cappuccio, Michele Pinelli, Marianna Alagia, PLoS ONE NutritionMetabolic DisorderMetabolomic ProfilingNeurochemical BiomarkersPotential Biomarkers	2017	52
Management of genetic epilepsies: From empirical treatment to precision medicine Pasquale Striano, Maria Stella Vari, Chiara Mazzocchetti, Pharmacological Research UrologyGenetic EpidemiologyGynecologyGenetic CounselingMedicine	2016	50

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