Frédéric Laumonnier

X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family

Frédéric Laumonnier, Frédérique Bonnet‐Brilhault, Marie Gomot et al. · The American Journal of Human Genetics · 2004 · 756 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Mendelian Disorder +15

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro et al. · The American Journal of Human Genetics · 2020 · 309 citations · Full text

Neurodevelopmental Disorders, Mendelian Disorder, Epigenetic Change +11

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Hao Hu, Stefan A. Haas, Jamel Chelly et al. · Molecular Psychiatry · 2015 · 299 citations · Full text

Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency

Frédéric Laumonnier, Nathalie Ronce, Ben C.J. Hamel et al. · The American Journal of Human Genetics · 2002 · 294 citations · Full text

Transcriptional Regulation, Developmental Biology, Growth Hormone +10

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

Guy Froyen, Mark Corbett, Joke Vandewalle et al. · The American Journal of Human Genetics · 2008 · 216 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +9