Gabriela Stangoni

Succinate‐CoA ligase deficiency due to mutations in <i>SUCLA2</i> and <i>SUCLG1</i>: phenotype and genotype correlations in 71 patients

Rosalba Carrozzo, Daniela Verrigni, Magnhild Rasmussen et al. · Journal of Inherited Metabolic Disease · 2015 · 87 citations

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

Daniela Rusconi, Gloria Negri, Patrizia Colapietro et al. · Human Genetics · 2015 · 86 citations

Molecular Neuroscience, Rubinstein–taybi Syndrome, Disease Mechanism +9

A New Homozygous<i>IGF1R</i>Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome

Paolo Prontera, Lucia Micale, Alberto Verrotti et al. · Human Mutation · 2015 · 47 citations

Exome Sequencing, Genetics, Genetic Epidemiology +20

Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia

Paolo Prontera, Gabriela Stangoni, Carmela Ardisia et al. · American Journal of Medical Genetics Part A · 2011 · 42 citations

Developmental Biology, Mendelian Disorder, Ophthalmology +9

2q31.2q32.3 deletion syndrome: Report of an adult patient

Paolo Prontera, Laura Bernardini, Gabriela Stangoni et al. · American Journal of Medical Genetics Part A · 2009 · 34 citations