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Publications by Jean-Louis Mandel
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation
American Journal of Human Genetics
Genetics
Spatial Control of Nucleoporin Assembly by Fragile X-Related Proteins
Mutation Analysis of the RSK2 Gene in Coffin-Lowry Patients: Extensive Allelic Heterogeneity and a High Rate of De Novo Mutations
American Journal of Human Genetics
Genetics
Expansion of the Fragile X CGG Repeat in Females With Premutation or Intermediate Alleles
American Journal of Human Genetics
Genetics
Transient Ciliogenesis Involving Bardet-Biedl Syndrome Proteins Is a Fundamental Characteristic of Adipogenic Differentiation
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
Properties of Polyglutamine Expansion in Vitro and in a Cellular Model for Huntington's Disease
Philosophical Transactions of the Royal Society B: Biological Sciences
Biochemistry
Agricultural
Genetics
Molecular Biology
Biological Sciences
BBS8 Is Rarely Mutated in a Cohort of 128 Bardet–Biedl Syndrome Families
Journal of Human Genetics
Genetics
