Jean-Marie Ravel

Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET

M. Michaud, A. Verger, E. Schmitt, 2022, neurogenetics.

Heterozygous pathogenic variation in GCH1 associated with treatable severe spastic tetraplegia.

M. Michaud, S. Frismand, J. Benoist, 2023, Parkinsonism & related disorders.

Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study

G. Lefort, P. Jonveaux, B. Leheup, 2023, Genome Medicine.

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients

S. Julia, A. Afenjar, F. Lecoquierre, 2024, Journal of medical genetics.