Francesca Mari

FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

Francesca Ariani, Dalila Rondinella, Rosangela Artuso et al. · The American Journal of Human Genetics · 2008 · 430 citations · Full text

Developmental Anomaly, Developmental Biology, Mendelian Disorder +7

Dyskeratosis Congenita and Cancer in Mice Deficient in Ribosomal RNA Modification

Davide Ruggero, Silvia Grisendi, Francesco Piazza et al. · Science · 2003 · 422 citations

Genome Instability, Engineering, Ribosomal Rna Modification +13

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 et al. · Human Molecular Genetics · 2005 · 317 citations · Full text

Early-onset Seizure Variant, Rett Syndrome, Genetics +18

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

Elisa Benetti, Rossella Tita, Ottavia Spiga et al. · European Journal of Human Genetics · 2020 · 267 citations · Full text

COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome

Ilaria Longo, Paola Porcedda, Francesca Mari et al. · Kidney International · 2002 · 229 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +9