Ilaria Meloni

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

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

A Mutation in the Rett Syndrome Gene, MECP2, Causes X-Linked Mental Retardation and Progressive Spasticity in Males

Ilaria Meloni, Mirella Bruttini, Ilaria Longo et al. · The American Journal of Human Genetics · 2000 · 228 citations · Full text

Developmental Anomaly, Progressive Spasticity, Developmental Biology +11

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 et al. · eLife · 2021 · 207 citations · Full text