Daniela Orteschi

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

Luigi Boccuto, Maria Lauri, Sara M. Sarasua et al. · European Journal of Human Genetics · 2012 · 248 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

Marcella Zollino, Daniela Orteschi, Marina Murdolo et al. · Nature Genetics · 2012 · 160 citations

Life Sciences, Genetics, Molecular Genetics +8

A case of Beckwith–Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus

Marcella Zollino, Daniela Orteschi, Giuseppe Marangi et al. · Journal of Medical Genetics · 2009 · 101 citations

Life Sciences, Genetics, Molecular Genetics +17

Pembrolizumab as first-line treatment for metastatic uveal melanoma

Ernesto Rossi, Monica Maria Pagliara, Daniela Orteschi et al. · Cancer Immunology Immunotherapy · 2019 · 86 citations · Full text

Medicine, Oncology, Pharmacotherapy +17

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