Francesca Faravelli
Istituto Giannina Gaslini(IT)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Congenital heart defects research, Prenatal Screening and Diagnostics
Most-Cited Works
- → X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy(2001)1,872 cited
- → Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor(2006)1,629 cited
- → Comparative risk of major congenital malformations with eight different antiepileptic drugs: a prospective cohort study of the EURAP registry(2018)528 cited
- → Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations(2005)335 cited
- → GermlineBRAFmutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum(2009)300 cited
- → Mapping the Wolf-Hirschhorn Syndrome Phenotype Outside the Currently Accepted WHS Critical Region and Defining a New Critical Region, WHSCR-2(2003)269 cited
- → Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases(2014)172 cited
- → Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management(2018)160 cited
- → De novo balanced chromosome rearrangements in prenatal diagnosis(2009)140 cited
- → Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans(2013)138 cited