Laurent Pasquier

20PUBLICATIONS
292CO-AUTHORS
Infant and child healthNeurogeneticsNeurology and neuromuscular diseasesQuaternary environmentsCellular nervous system
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (20)

|May 26, 2026
Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

|Oct 23, 2025
PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France.

Camille Level, Christel Thauvin-Robinet, Christine Binquet

|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Caroline Nava, Benjamin Cogne, Amandine Santini

|Mar 05, 2025
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.

Clara Houdayer, Kathleen Rooney, Liselot van der Laan

|Jul 08, 2024
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency.

Agnès Rötig, Pauline Gaignard, Giulia Barcia

|Apr 25, 2024
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.

Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati

Pageof 4

Frequent Collaborators

5 joint publications

Anne-Sophie Denommé-Pichon

5 joint publications

Marie Vincent

4 joint publications

Gaetan Lesca

4 joint publications

Ange-Line Bruel