Lyse Ruaud

Rett‐like phenotypes: expanding the genetic heterogeneity to the <i><scp>KCNA2</scp></i> gene and first familial case of <i><scp>CDKL5</scp></i>‐related disease

Lila Allou, Sophie Julia, Daniel Amsallem et al. · Clinical Genetics · 2016 · 49 citations

Rett‐like Phenotypes, Genetics, Pathology +16

Severe Phenotype in Patients with Large Deletions of NF1

Laurence Pacot, Dominique Vidaud, Audrey Sabbagh et al. · Cancers · 2021 · 38 citations · Full text

DYRK1A mutations in two unrelated patients

Lyse Ruaud, Cyril Mignot, Agnès Guët et al. · European Journal of Medical Genetics · 2015 · 35 citations

Mendelian Disorder, Genetic Disorder, Medicine +5

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions

Hadia Hijazi, Linda M. Reis, Davut Pehli̇van et al. · The American Journal of Human Genetics · 2022 · 23 citations · Full text

Neurodevelopmental Disorders, Neurobiology Of Disease, Developmental Biology +12

Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish

Deepak Khatri, Audrey Putoux, Audric Cologne et al. · Proceedings of the National Academy of Sciences · 2023 · 22 citations · Full text