Fanny Laffargue

New insights into genotype–phenotype correlation for GLI3 mutations

Florence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli et al. · European Journal of Human Genetics · 2014 · 121 citations · Full text

Genetics, Genotype–phenotype Correlation, Molecular Genetics +3

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

Physiology, Episodic Apnea, Congenital Myasthenic Syndrome +1

Mutations of the Imprinted<i>CDKN1C</i>Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

Frédéric Brioude, Irène Netchine, Françoise Praz et al. · Human Mutation · 2015 · 81 citations

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

Annie Laquerrière, Dana Jaber, Emanuela Abiusi et al. · Journal of Medical Genetics · 2021 · 62 citations · Full text

Further delineation of the <i>MECP2</i> duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

Marguerite Miguet, Laurence Faivre, Jeanne Amiel et al. · Journal of Medical Genetics · 2018 · 61 citations · Full text