Gabriella Vera
6PUBLICATIONS
129CO-AUTHORS
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Publications (6)
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|Jun 13, 2025
Expanding the phenotypic and genetic landscape of congenital neutropenia through whole-exome and genome sequencing.Séverine Marti, Philippe Pellet, Blandine Beaupain
|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
|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
|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
|Dec 13, 2021
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study.Claire Forde, Emma Burkitt-Wright, Peter D Turnpenny
|Aug 01, 2019
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.Henri Margot, Guilaine Boursier, Claire Duflos
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Frequent Collaborators
3 joint publications
Frédéric Tran-Mau-Them
3 joint publications
Anne-Sophie Denommé-Pichon
3 joint publications
Marie Vincent
2 joint publications
Elise Brischoux-Boucher
2 joint publications
Christel Depienne
2 joint publications
Benjamin Cogné
2 joint publications
Christèle Dubourg
2 joint publications
Florence Petit
2 joint publications
Nicolas Chatron
2 joint publications
Annick Toutain
