Stefania Ricciardi

Intragenic <i>KANSL1</i> mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients

Marcella Zollino, Giuseppe Marangi, Emanuela Ponzi et al. · Journal of Medical Genetics · 2015 · 80 citations

The Pitt‐Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria

Giuseppe Marangi, Stefania Ricciardi, Daniela Orteschi et al. · American Journal of Medical Genetics Part A · 2011 · 77 citations

Normal Tcf4, Genetics, Pathology +19

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome

Concetta Cafiero, Giuseppe Marangi, Daniela Orteschi et al. · European Journal of Human Genetics · 2015 · 45 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +11

Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf‐Hirschhorn syndrome–associated seizures disorder

Marcella Zollino, Daniela Orteschi, Mariken Ruiter et al. · Epilepsia · 2014 · 41 citations · Full text

Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4

Maria Francesca Bedeschi, Giuseppe Marangi, Mariarosaria Calvello et al. · European Journal of Medical Genetics · 2017 · 31 citations

Mendelian Disorder, Autoimmune Disease, Intragenic Molecular Syndromology +11