Lucia Grillo

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

María Clara Bonaglia, Roberto Giorda, Silvana Beri et al. · PLoS Genetics · 2011 · 223 citations · Full text

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Holly A.F. Stessman, Marjolein H. Willemsen, Michaela Fencková et al. · The American Journal of Human Genetics · 2016 · 162 citations · Full text

Neurodevelopmental Disorders, Down Syndrome, Intellectual Impairment +13

Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients

Lucia Grillo, S Reitano, Giovanni Belfiore et al. · European Journal of Medical Genetics · 2010 · 95 citations

Chromosome Xq22.1, Psychiatric Disorders, Psychiatry +13

Seizures and EEG pattern in the 22q13.3 deletion syndrome: Clinical report of six Italian cases

Maria Grazia Figura, Antonietta Coppola, Maria Bottitta et al. · Seizure · 2014 · 72 citations

Neuropsychology, Neurological Disorder, Clinical Report +9

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Sandra Jansen, Alexander Hoischen, Bradley P. Coe et al. · European Journal of Human Genetics · 2017 · 55 citations · Full text

Down Syndrome, Metabolic Syndrome, Obesity +12