Francesca Faravelli

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy

Robert S. Wildin, Fred Ramsdell, Jane Peake et al. · Nature Genetics · 2001 · 1.9K citations

Knockout Mouse, Metabolic Syndrome, Human Equivalent +10

Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor

Bart Loeys, Ulrike Schwarze, Tammy M. Holm et al. · New England Journal of Medicine · 2006 · 1.6K citations · Full text

Comparative risk of major congenital malformations with eight different antiepileptic drugs: a prospective cohort study of the EURAP registry

Torbjörn Tomson, Dina Battino, Erminio Bonizzoni et al. · The Lancet Neurology · 2018 · 521 citations · Full text

Urology, Pediatric Neurosurgery, Pediatrics +4

Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations

Katrina Tatton‐Brown, Jenny Douglas, Kim Coleman et al. · The American Journal of Human Genetics · 2005 · 334 citations · Full text

Sotos Syndrome, Genotype-phenotype Associations, Genetic Disorder +7

Germline<i>BRAF</i>mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

Anna Sárközy, Claudio Carta, Sonia Moretti et al. · Human Mutation · 2009 · 298 citations · Full text

Engineering, Germline Braf Defects, Genetics +16