Elise Brischoux-Boucher
16PUBLICATIONS
120CO-AUTHORS
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Publications (16)
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|Aug 04, 2025
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.Laurence Pacot, Marinus Blok, Dominique Vidaud
|Jan 21, 2025
The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.Cindy Colson, Marine Tessarech, Elise Boucher-Brischoux
|Apr 01, 2024
Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.Alexis Billes, Mathilde Pujalte, Guillaume Jedraszak
|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
|Aug 16, 2023
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.Francesca Peluso, Stefano G Caraffi, Gianluca Contrò
|Jun 21, 2023
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.Camille Engel, Stéphanie Valence, Geoffroy Delplancq
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Frequent Collaborators
3 joint publications
Gaël Nicolas
3 joint publications
Laurent Pasquier
2 joint publications
Aurélien Trimouille
2 joint publications
Alice Goldenberg
2 joint publications
Florence Petit
2 joint publications
Fowzan S Alkuraya
2 joint publications
Lydie Burglen
2 joint publications
Annick Toutain
2 joint publications
Jonathan Lévy
2 joint publications
Ange-Line Bruel
