Roberta Polli

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

Stephanie Fehr, Meredith Wilson, Jenny Downs et al. · European Journal of Human Genetics · 2012 · 304 citations · Full text

Autoimmune Disease, Neurological Disorder, Independent Clinical Entity +8

<i>Cx26</i> deafness: mutation analysis and clinical variability

Alessandra Murgia, Eva Orzan, Roberta Polli et al. · Journal of Medical Genetics · 1999 · 143 citations · Full text

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission

Carolyn M. Yrigollen, Loreto Martorell, Blythe Durbin‐Johnson et al. · Journal of Neurodevelopmental Disorders · 2014 · 109 citations · Full text

Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria

Rosangela Artuso, Maria Antonietta Mencarelli, Roberta Polli et al. · Brain and Development · 2009 · 72 citations

Early-onset Seizure Variant, Neurological Disorder, Rett Syndrome +4

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

Maria Cristina Aspromonte, Mariagrazia Bellini, Alessandra Gasparini et al. · Human Mutation · 2019 · 64 citations · Full text

Genome-wide Association Study, Intellectual Impairment, Functional Genomics +15