Concepedia
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Publications
27
Citations
1.5K
H-Index
21
Active since
2007
Affiliations
Università Cattolica del Sacro Cuore(Current)
Sapienza University of Rome
Agostino Gemelli University Polyclinic
University of Padua
Don Carlo Gnocchi Foundation
Daniela Orteschi is an author at Università Cattolica del Sacro Cuore specializing in medicine, genetics, and pathology.
Top concepts
MedicineGeneticsPathologyNeuropathologyClinical GeneticsMolecular GeneticsDevelopmental BiologyPediatricsNeurogeneticsGenetic Epidemiology
Publications per year
2007–2023
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 · 243 citations · Full text
Psychiatry, Autism Spectrum Disorders, Syndromic Autism +9
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
Marcella Zollino, Daniela Orteschi, Marina Murdolo et al. · Nature Genetics · 2012 · 160 citations
Mendelian Disorder, Microdeletion Syndrome Phenotype, Genetic Disorder +4
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
Pembrolizumab as first-line treatment for metastatic uveal melanoma
Ernesto Rossi, Monica Maria Pagliara, Daniela Orteschi et al. · Cancer Immunology Immunotherapy · 2019 · 85 citations · Full text
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
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