Frédéric Tran Mau‐Them

A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis)

Sylvie Grandemange, Elodie Sanchez, Pascale Louis‐Plence et al. · Annals of the Rheumatic Diseases · 2016 · 220 citations

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

Sophie Nambot, Julien Thévenon, Paul Kuentz et al. · Genetics in Medicine · 2017 · 193 citations · Full text

Developmental Anomaly, Rare Diseases, Mendelian Disorder +10

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Vincenzo Salpietro, Nancy T. Malintan, Isabel Llano‐Rivas et al. · The American Journal of Human Genetics · 2019 · 117 citations · Full text

Synaptic Plasticity, Molecular Neuroscience, Developmental Biology +12

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

Sónia Barbosa, Stephanie Greville‐Heygate, Maxime Bonnet et al. · The American Journal of Human Genetics · 2020 · 105 citations · Full text

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4

Elodie Sanchez, Béryl Laplace-Builhe, Frédéric Tran Mau‐Them et al. · Genetics in Medicine · 2019 · 91 citations · Full text