A novel patient with <scp>White–Sutton</scp> syndrome refines the mutational and clinical repertoire of the <i>POGZ‐</i>related phenotype and suggests further observationsGiulia Pascolini, Paola Grammatico, Claudia Cesario et al.|American Journal of Medical Genetics Part A|2020Cited by 14
The facial dysmorphology analysis technology in intellectual disability syndromes related to defects in the histones modifiersGiulia Pascolini, Paola Grammatico, Nicole Fleischer et al.|Journal of Human Genetics|2019Cited by 11
Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletionGiulia Pascolini, Paola Grammatico, Michele Valiante et al.|European Journal of Medical Genetics|2019Cited by 9
Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplicationGiulia Pascolini, Paola Grammatico, Laura Bernardini et al.|Neurological Sciences|2020Cited by 3