Francesca Scarano

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

Life Sciences, Genetics, Molecular Genetics +17

<i>SNORD116</i> deletions cause Prader‐Willi syndrome with a mild phenotype and macrocephaly

Paolo Fontana, Marina Grasso, Fabio Acquaviva et al. · Clinical Genetics · 2017 · 62 citations

Life Sciences, Genetics, Molecular Genetics +16

Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation

Fortunato Lonardo, Paola Di Natale, Susanna Lualdi et al. · American Journal of Medical Genetics Part A · 2014 · 51 citations

Life Sciences, Genetics, Molecular Genetics +16

A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype

Paolo Fontana, Monia Ginevrino, Kristel Bejo et al. · European Journal of Medical Genetics · 2021 · 17 citations

Life Sciences, Genetics, Neurology +12

Diagnostic application of a capture based <scp>NGS</scp> test for the concurrent detection of variants in sequence and copy number as well as <scp>LOH</scp>

Annalisa Vetro, Didier Goidin, Iván Lesende et al. · Clinical Genetics · 2017 · 14 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17