Lydie Bürglen

Identification and characterization of a spinal muscular atrophy-determining gene

Suzie Lefebvre, Lydie Bürglen, Sophie Reboullet et al. · Cell · 1995 · 3.9K citations · Full text

Genetics, Gene Characterization, Molecular Genetics +3

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

Christelle M. Durand, Catalina Betancur, Tobias M. Boeckers et al. · Nature Genetics · 2006 · 1.6K citations · Full text

Neurodevelopmental Disorders, Synaptic Plasticity, Molecular Neuroscience +12

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome

Christine Gicquel, Sylvie Rossignol, Sylvie Cabrol et al. · Nature Genetics · 2005 · 503 citations

Chromosome 11P15, Genetic Disorder, Genetics +4

De Novo and Inherited Deletions of the 5q13 Region in Spinal Muscular Atrophies

Judith Melki, Suzie Lefebvre, Lydie Bürglen et al. · Science · 1994 · 316 citations

Rare Diseases, Developmental Biology, Inherited Deletions +15

Structure and Organization of the Human Survival Motor Neurone (SMN) Gene

Lydie Bürglen, Suzie Lefebvre, Olivier Clermont et al. · Genomics · 1996 · 251 citations

Neurodegenerative Diseases, Neuroregeneration, Developmental Biology +9