Frédéric Tran Mau‐Them
Inserm(FR)Université de Bourgogne(FR)CHU Dijon Bourgogne(FR)Fédération Francophone de Cancérologie Digestive(FR)Centre de recherche Translationnelle en Médecine moléculaire(FR)Laboratoire d'étude de l'apprentissage et du développement(FR)Institut de Génomique Fonctionnelle(FR)Université Bourgogne Europe(FR)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, RNA modifications and cancer, Congenital heart defects research
Most-Cited Works
- → High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies(2017)451 cited
- → A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis)(2016)221 cited
- → Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis(2017)197 cited
- → Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment(2019)125 cited
- → Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders(2020)107 cited
- → POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4(2019)