Catherine Badens

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors

Claire Navarro, Juan Cadiñanos, Annachiara De Sandre‐Giovannoli et al. · Human Molecular Genetics · 2005 · 290 citations · Full text

Delineating the <i>GRIN1</i> phenotypic spectrum

Johannes R. Lemke, Kirsten Geider, Katherine L. Helbig et al. · Neurology · 2016 · 202 citations · Full text

The SKIV2L RNA exosome limits activation of the RIG-I-like receptors

Sterling Eckard, Gillian Rice, Alexandre Fabre et al. · Nature Immunology · 2014 · 193 citations · Full text

Skiv2l Rna, Signal Transduction, Rna Structure Prediction +7

SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

Alexandre Fabre, Bernard Charroux, Christine Martinez‐Vinson et al. · The American Journal of Human Genetics · 2012 · 157 citations · Full text

Genetic Disorder, Pathogenesis, Trichohepatoenteric Syndrome +4

Newborn screening for sickle cell disease in Europe: recommendations from a Pan‐European Consensus Conference

Stephan Lobitz, Paul Telfer, Elena Cela et al. · British Journal of Haematology · 2018 · 142 citations · Full text

Neonatology, Diagnosis, Early Diagnosis +24