Marguerite Miguet

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

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

Valérie Biancalana, Sophie Scheidecker, Marguerite Miguet et al. · Acta Neuropathologica · 2017 · 58 citations

Affected Female Carriers, Mendelian Disorder, Genetic Disorder +9

Xq28 duplication including <i><scp>MECP2</scp></i> in six unreported affected females: what can we learn for diagnosis and genetic counselling?

Salima El Chehadeh, Renaud Touraine, Fabienne Prieur et al. · Clinical Genetics · 2016 · 54 citations

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

René G. Feichtinger, Bettina E. Mucha, Holger Hengel et al. · Genetics in Medicine · 2019 · 41 citations

New Genetic Cause, Transcriptional Regulation, Mendelian Disorder +10

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

Nadège Calmels, Géraldine Greff, Cathy Obringer et al. · Orphanet Journal of Rare Diseases · 2016 · 40 citations · Full text