Franco Stanzial
Ospedale di Bolzano(IT)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Neurofibromatosis and Schwannoma Cases, Sarcoma Diagnosis and Treatment, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → GermlineBRAFmutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum(2009)300 cited
- → Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia(2015)212 cited
- → SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations(2011)127 cited
- → Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome(2015)121 cited
- → Quadruple-Negative GIST Is a Sentinel for Unrecognized Neurofibromatosis Type 1 Syndrome(2016)90 cited
- → SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome(2013)87 cited
- → Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study(2018)83 cited
- → Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases(2017)82 cited
- → Characterization of intellectual disability and autism comorbidity through gene panel sequencing(2019)65 cited
- → The Clinical Phenotype of CNGA3 -Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial(2017)57 cited