Audrey Suleau-Briand
Paris, France
Last Updated: 09/26/2026
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Found 24 publications
Immune landscape characterization of neurofibromas with atypical features in Neurofibromatosis1 reveals PD-1 and the Tim-3/Galectin-9 pathway as potential therapeutic targets.
Journal: Acta neuropathologica communications
Published: October 23, 2025
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Journal: Nature genetics
Published: September 02, 2025
Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions: Confirmation of the Predominant Maternal Origin of Type-1 Deletions.
Journal: The Journal of molecular diagnostics : JMD
Published: August 09, 2023
Identification of potential common genetic modifiers of neurofibromas: a genome-wide association study in 1333 patients with neurofibromatosis type 1.
Journal: The British journal of dermatology
Published: April 28, 2023
Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1.
Journal: Human genetics
Published: June 11, 2022
Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing Variant.
Journal: The Journal of clinical endocrinology and metabolism
Published: August 11, 2021
Wnt/β-catenin pathway and cell adhesion deregulation in CSDE1-related intellectual disability and autism spectrum disorders.
Journal: Molecular psychiatry
Published: August 19, 2020
Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.
Journal: Neuro-oncology
Published: February 07, 2018
Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome.
Journal: European journal of human genetics : EJHG
Published: April 25, 2017
Last Updated: 09/26/2026