Marie‐Christine Nouguès

Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

Gillian Rice, Sehoon Park, Francesco Gavazzi et al. · Human Mutation · 2020 · 113 citations · Full text

Life Sciences, Genetics, Immunology +17

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

David B. Beck, Ana Petracovici, Chongsheng He et al. · The American Journal of Human Genetics · 2020 · 112 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

<i>KCNT1</i>-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum

Claudia Bonardi, Henrike Heyne, Martina Fiannacca et al. · Brain · 2021 · 102 citations · Full text

Life Sciences, Genetics, Neurology +17

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

Stéphanie Bauché, S O’Regan, Yoshiteru Azuma et al. · The American Journal of Human Genetics · 2016 · 91 citations · Full text

Life Sciences, Neuroscience, Physiology +15

<i>WWOX</i>-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation

Cyril Mignot, Laëtitia Lambert, Laurent Pasquier et al. · Journal of Medical Genetics · 2014 · 81 citations

Life Sciences, Genetics, Neurology +17