Antonio Novelli

X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

Takaki Asano, Bertrand Boisson, Fanny Onodi et al. · Science Immunology · 2021 · 410 citations · Full text

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

Francesca Romana Grati, D. Molina Gomes, José Carlos Ferreira et al. · Prenatal Diagnosis · 2015 · 303 citations

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features

Agatino Battaglia, Viola Doccini, Laura Bernardini et al. · European Journal of Paediatric Neurology · 2013 · 206 citations

Neurodevelopmental Disorders, Intellectual Impairment, Psychiatry +11

Human neural stem cell transplantation in ALS: initial results from a phase I trial

Letizia Mazzini, Maurizio Gelati, Daniela Celeste Profico et al. · Journal of Translational Medicine · 2015 · 200 citations · Full text

Natural Gene-Expression Variation in Down Syndrome Modulates the Outcome of Gene-Dosage Imbalance

Paola Prandini, Samuel Deutsch, Robert Lyle et al. · The American Journal of Human Genetics · 2007 · 197 citations · Full text

Down Syndrome, Genetic Analysis, Natural Gene-expression Variation +8