Francesca Mari - Concepedia

Author

Francesca Mari

Also Known As

Alessandra Renieri, Carlo Rivolta, Dionysios Neofytos, Elisa Frullanti, F Mari, F. Mari, Francesca Mari, Mari Francesca, Mari, Francesca, Oncologic Multidisciplinary Team

216

Publications

10.5K

Citations

H-Index

170

Concepts

All Affiliations

University of Siena Azienda Ospedaliera Universitaria Senese Istituti di Ricovero e Cura a Carattere Scientifico University of Padua University of Pavia

About

Francesca Mari is an author at University of Siena specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	35	62	4.2K
2	Public Health	9	9	452
3	Natural Sciences	3	3	69
4	Arts	2	2	151
5	Engineering	1	1	422

Francesca Mari

122

Publications

7.9K

Citations

H-Index

Page 1

	Year	Citations
FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome Francesca Ariani, Dalila Rondinella, Rosangela Artuso, The American Journal of Human Genetics Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics	2008	430
Dyskeratosis Congenita and Cancer in Mice Deficient in Ribosomal RNA Modification Davide Ruggero, Silvia Grisendi, Francesco Piazza, Science Genome InstabilityEngineeringRibosomal Rna ModificationDyskeratosis CongenitaRibosomal Rna Pseudouridylation	2003	422
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome Francesca Mari, Sara Azimonti, Ilaria Bertani, Human Molecular Genetics Early-onset Seizure VariantRett SyndromeGeneticsDisease Gene IdentificationCdkl5 Gene	2005	317
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population Elisa Benetti, Rossella Tita, Ottavia Spiga, European Journal of Human Genetics	2020	267
COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome Ilaria Longo, Paola Porcedda, Francesca Mari, Kidney International Mendelian DisorderGenetic DisorderMedicineGeneticsCol4a3/col4a4 Mutations	2002	229
A Mutation in the Rett Syndrome Gene, MECP2, Causes X-Linked Mental Retardation and Progressive Spasticity in Males Ilaria Meloni, Mirella Bruttini, Ilaria Longo, The American Journal of Human Genetics Developmental AnomalyProgressive SpasticityDevelopmental BiologyMendelian DisorderGenetic Disorder	2000	228
A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, Human Molecular Genetics	2013	227
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants Lucilla Pizzo, Matthew Jensen, Andrew Polyak, Genetics in Medicine	2018	218
Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study Chiara Fallerini, Sergio Daga, Stefania Mantovani, eLife	2021	207
Evidence of digenic inheritance in Alport syndrome Maria Antonietta Mencarelli, Laurence Heidet, Helen Storey, Journal of Medical Genetics	2015	159

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