Mathilde Pacault

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Sébastien Küry, Thomas Besnard, Frédéric Ebstein et al. · The American Journal of Human Genetics · 2017 · 110 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +16

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

Marion Lenglet, Florence Robriquet, Klaus Schwarz et al. · Blood · 2018 · 97 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

<i>NBEA</i>: Developmental disease gene with early generalized epilepsy phenotypes

Maureen Mulhern, Constance T. R. M. Stumpel, Nicholas Stong et al. · Annals of Neurology · 2018 · 57 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of <i>NF1</i> and <i>CFTR</i> mutations using droplet digital PCR

Aurélia Gruber, Mathilde Pacault, Laïla El Khattabi et al. · Clinical Chemistry and Laboratory Medicine (CCLM) · 2018 · 40 citations

Medicine, Genetics, Molecular Genetics +14

Cysteinyl leukotriene signaling through perinuclear CysLT1 receptors on vascular smooth muscle cells transduces nuclear calcium signaling and alterations of gene expression

Alison Eaton, Edit Nagy, Mathilde Pacault et al. · Journal of Molecular Medicine · 2012 · 25 citations · Full text

Medicine, Cardiology, Pharmacology +15