Frédéric Huet
Université de Technologie de Compiègne(FR)Inserm(FR)CHU Dijon Bourgogne(FR)Centre de recherche Translationnelle en Médecine moléculaire(FR)
Publications by Year
Research Areas
Cystic Fibrosis Research Advances, Genomic variations and chromosomal abnormalities, Neonatal Respiratory Health Research, Viral gastroenteritis research and epidemiology, Genomics and Rare Diseases
Most-Cited Works
- → Association of Intravenous Immunoglobulins Plus Methylprednisolone vs Immunoglobulins Alone With Course of Fever in Multisystem Inflammatory Syndrome in Children(2021)365 cited
- → Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test(2016)267 cited
- → Multicenter Prospective Study of the Burden of Rotavirus Acute Gastroenteritis in Europe, 2004–2005: The REVEAL Study(2007)223 cited
- → PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy(2013)202 cited
- → Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development(2011)188 cited
- → Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic FBN1 Mutations(2008)