Séverine Bacrot

<i>FAM46A</i> mutations are responsible for autosomal recessive osteogenesis imperfecta

Mathilde Doyard, Séverine Bacrot, Céline Huber et al. · Journal of Medical Genetics · 2018 · 74 citations

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome

Yin‐Huai Chen, Giedré Grigelioniené, Phillip T. Newton et al. · The Journal of Experimental Medicine · 2020 · 61 citations · Full text

Mutations in<i>SNRPB</i>, Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome

Séverine Bacrot, Mathilde Doyard, Céline Huber et al. · Human Mutation · 2014 · 50 citations

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

Heba Morsy, Mehdi Benkirane, Elisa Calì et al. · Genetics in Medicine · 2022 · 25 citations · Full text

Neurological Disorder, Spastic Paraplegia, From Epileptic Encephalopathy +6

Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome

Livia Marcato, Licia Turolla, Eva Pompilii et al. · Clinical Case Reports · 2014 · 23 citations · Full text

Neurological Disorder, Genetics, Williams-beuren Syndrome +17