Alice Masurel

Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency

Chloé Saunier, Svein I. Støve, Bernt Popp et al. · Human Mutation · 2016 · 91 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Juvenile Xanthogranuloma and Nevus Anemicus in the Diagnosis of Neurofibromatosis Type 1

Faustine Ferrari, Alice Masurel, Laurence Olivier-Faivre et al. · JAMA Dermatology · 2013 · 81 citations

Medicine, Dermatology, Pediatrics +12

Delineating <i>FOXG1</i> syndrome

Nancy Végas, Mara Cavallin, Camille Maillard et al. · Neurology Genetics · 2018 · 77 citations · Full text

Life Sciences, Genetics, Neuroscience +17

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

Marie‐Lorraine Monin, Cyril Mignot, Pascale de Lonlay et al. · Orphanet Journal of Rare Diseases · 2014 · 72 citations · Full text

Medicine, Genetics, Pediatrics +15