Laëtitia Lambert

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

Marie Vincent, David Geneviève, Agnès Ostertag et al. · Genetics in Medicine · 2015 · 162 citations

Medicine, Clinical Sciences, Molecular Genetics +3

The <i>DYRK1A</i> gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

Jean‐Benoît Courcet, Laurence Faivre, Perrine Malzac et al. · Journal of Medical Genetics · 2012 · 124 citations

Life Sciences, Genetics, Molecular Genetics +17

Novel<i>KCNQ2</i>and<i>KCNQ3</i>Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A

Maria Virginia Soldovieri, Nadia Boutry‐Kryza, Mathieu Milh et al. · Human Mutation · 2013 · 97 citations

Life Sciences, Genetics, Molecular Genetics +17

Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine

Abdelkader Heddar, Sabrina Corrêa da Costa, Inès Braham et al. · EBioMedicine · 2022 · 92 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Phenotypic variability in Rett syndrome associated with <i>FOXG1</i> mutations in females

Christophe Philippe, Daniel Amsallem, Christine Francannet et al. · Journal of Medical Genetics · 2009 · 88 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11