Pascale Saugier-Veber
7PUBLICATIONS
68CO-AUTHORS
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Publications (7)
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|Jul 08, 2025
REGISTRE SMA FRANCE: A nationwide observational registry of patients with spinal muscular atrophy in France.Lamiae Grimaldi, Rocio Garcia-Uzquiano, Marta Gomez-Garcia de la Banda
|Apr 04, 2025
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features.Christel Thauvin-Robinet, Aurore Garde, Maud Favier
|Jul 22, 2024
Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy.Mar Costa-Roger, Laura Blasco-Pérez, Lorene Gerin
|Oct 23, 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.Thomas Husson, François Lecoquierre, Gaël Nicolas
|Sep 22, 2022
Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy.Myriam Vezain, Christel Thauvin-Robinet, Yoann Vial
|Jul 17, 2022
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.Juliette Coursimault, Kévin Cassinari, François Lecoquierre
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Frequent Collaborators
3 joint publications
Gaël Nicolas
2 joint publications
Juliette Coursimault
2 joint publications
Frédéric Tran-Mau-Them
2 joint publications
Kévin Cassinari
2 joint publications
Elise Brischoux-Boucher
2 joint publications
Mathilde Nizon
2 joint publications
François Lecoquierre
2 joint publications
Olivier Quenez
2 joint publications
Sophie Nambot
2 joint publications
Anne-Sophie Denommé-Pichon
