Florence Molinari

Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations

Sarah Boissel, Orit Reish, Karine Proulx et al. · The American Journal of Human Genetics · 2009 · 394 citations · Full text

Multiple Malformations, Developmental Biology, Loss-of-function Mutation +9

Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental Retardation

Florence Molinari, Marlène Rio, Virginia Meskenaïte et al. · Science · 2002 · 184 citations

Association of a Functional Deficit of the BK _Ca Channel, a Synaptic Regulator of Neuronal Excitability, With Autism and Mental Retardation

Frédéric Laumonnier, Sébastien Roger, Pascaline Guérin et al. · American Journal of Psychiatry · 2006 · 166 citations · Full text

Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy

Florence Molinari, Annick Raas‐Rothschild, Marlène Rio et al. · The American Journal of Human Genetics · 2005 · 157 citations · Full text

Neurobiology Of Disease, Molecular Neuroscience, Neurophysiology +8

Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

Florence Molinari, François Foulquier, Patrick Tarpey et al. · The American Journal of Human Genetics · 2008 · 150 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +6