Mirella Bruttini

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

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

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

Maria Teresa Bassi, Maria Vittoria Schiaffino, Alessandra Renieri et al. · Nature Genetics · 1995 · 203 citations

Cytogenetics, X Chromosome, Genetics +10

Evidence of digenic inheritance in Alport syndrome

Maria Antonietta Mencarelli, Laurence Heidet, Helen Storey et al. · Journal of Medical Genetics · 2015 · 159 citations · Full text