Francesco Benedicenti
Ospedale di Bolzano(IT)New York University Florence(IT)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Autism Spectrum Disorder Research, Retinal Development and Disorders
Most-Cited Works
- → Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia(2015)212 cited
- → Adverse effects of prenatal methimazole exposure(2001)208 cited
- → Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database(2011)153 cited
- → Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort ofKabuki Syndrome Patients(2014)103 cited
- → SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome(2013)87 cited
- → Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases(2017)82 cited
- → Spondylo‐epiphyseal dysplasia, Maroteaux type (pseudo‐Morquio syndrome type 2), and parastremmatic dysplasia are caused by mutations