Ange-Line Bruel

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

Chunmei Li, Victor L. Jensen, Kwangjin Park et al. · PLoS Biology · 2016 · 136 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +17

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

Salima El Chehadeh, Wilhelmina S. Kerstjens‐Frederikse, Julien Thévenon et al. · European Journal of Human Genetics · 2016 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Cyril Mignot, Aoife McMahon, Claire Bar et al. · Genetics in Medicine · 2018 · 62 citations · Full text

Medicine, Genetics, Neurology +17

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

Martin Chevarin, Yannis Duffourd, Rebecca Barnard et al. · Journal of Medical Genetics · 2020 · 14 citations

Life Sciences, Genetics, Molecular Genetics +17