Researchclopedia

Research Researchers Institutions Topics Submit About

Command Palette

Search for a command to run...

Researchclopedia

Research Researchers Institutions About

© 2026 Researchclopedia. Powered by OpenAlex under CC0 license.

Lydie Bürglen | Researchclopedia

Back to researchers

Lydie Bürglen

Sorbonne Université ORCID

197

Works

13,616

Citations

53

h-index

116

i10-index

Research Topics

Genetics and Neurodevelopmental Disorders Genomics and Rare Diseases RNA modifications and cancer

Affiliations

Délégation Paris 52022–2022

Hôpital Necker-Enfants Malades2000–2000

Centre National de la Recherche Scientifique2015–2025

Inserm1994–2025

Délégation Paris 72017–2019

Top Works

Identification and characterization of a spinal muscular atrophy-determining gene

Suzie Lefebvre,Lydie Bürglen,et al.

19953,940 citations

Fetal and Pediatric Neurological Disorders

Neurogenetic and Muscular Disorders Research

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

Christelle M. Durand,Catalina Betancur,et al.

20061,596 citations

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

Christine Gicquel,Sylvie Rossignol,et al.

2005504 citations

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

Judith Melki,Suzie Lefebvre,et al.

1994316 citations

Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification

David Cohen,Nad�ge Pichard,et al.

2005315 citations

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

Lydie Bürglen,Suzie Lefebvre,et al.

1996251 citations

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro,Christine L. Dixon,et al.

2019242 citations

A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

Elena Bussaglia,Olivier Clermont,et al.

1995217 citations

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

Ashley L. Lennox,Mariah L. Hoye,et al.

2020216 citations