Maria Antonietta Mencarelli

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey et al. · Nature · 2011 · 474 citations · Full text

Gene Dosage, Genetics, Human Polymorphism +8

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

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

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