Sophie Chancenotte

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

Amélie Piton, Hélène Poquet, Claire Redin et al. · European Journal of Human Genetics · 2013 · 85 citations

Life Sciences, Genetics, Molecular Genetics +10

Expanding the clinical phenotype of patients with a <i>ZDHHC9</i> mutation

Alice Masurel‐Paulet, Vera M. Kalscheuer, Nicolas Lebrun et al. · American Journal of Medical Genetics Part A · 2013 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

A new family with an <i>SLC9A6</i> mutation expanding the phenotypic spectrum of Christianson syndrome

Alice Masurel‐Paulet, Amélie Piton, Sophie Chancenotte et al. · American Journal of Medical Genetics Part A · 2016 · 27 citations

Life Sciences, Genetics, Molecular Genetics +17

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

Julien Thévenon, Céline Souchay, Gail K. Seabold et al. · European Journal of Human Genetics · 2015 · 26 citations

Life Sciences, Genetics, Molecular Genetics +11

<scp>Smith‐Magenis</scp> syndrome: Clinical and behavioral characteristics in a large retrospective cohort

Nicolas Rive Le Gouard, Adeline Jacquinet, Lyse Ruaud et al. · Clinical Genetics · 2020 · 21 citations

Life Sciences, Genetics, Pediatrics +17