Jennifer A. Bassetti

<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

Laura Cif, Diane Demailly, Jean‐Pierre Lin et al. · Brain · 2020 · 94 citations · Full text

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Sarah E. Sheppard, Ian M. Campbell, Margaret Harr et al. · American Journal of Medical Genetics Part A · 2021 · 66 citations · Full text

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

Sayaka Kayumi, Luis A. Pérez‐Jurado, María Palomares‐Bralo et al. · Genetics in Medicine · 2022 · 48 citations · Full text

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

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures

Béryl Royer‐Bertrand, Marine Jequier Gygax, Katarina Cisarova et al. · Molecular Autism · 2021 · 17 citations · Full text