Maude Grelet

Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of <scp><i>PDCL3</i></scp> as a novel candidate gene

Clarisse Billon, Arnaud Molin, Céline Poirsier et al. · Clinical Genetics · 2020 · 26 citations

Life Sciences, Genetics, Molecular Genetics +13

Heterozygous<i>HTRA1</i>nonsense or frameshift mutations are pathogenic

Thibault Coste, Dominique Hervé, Jean Philippe Neau et al. · Brain · 2021 · 20 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders

Maude Grelet, Véronique Blanck, Sabine Sigaudy et al. · Orphanet Journal of Rare Diseases · 2019 · 10 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17