Fanny Pelluard

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

Louise Devisme, C Bouchet, Marie Gonzalès et al. · Brain · 2012 · 187 citations

Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases

Laurent Pasquier, Pascale Marcorelles, Philippe Loget et al. · Acta Neuropathologica · 2008 · 111 citations · Full text

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

Caroline Alby, Kevin Piquand, Céline Huber et al. · The American Journal of Human Genetics · 2015 · 92 citations · Full text

Molecular Diagnostic Techniques, Mendelian Disorder, Genetic Disorder +9

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

Zinan Zhang, Florian Gothe, Perrine Pennamen et al. · The Journal of Experimental Medicine · 2019 · 88 citations · Full text

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

Annie Laquerrière, Dana Jaber, Emanuela Abiusi et al. · Journal of Medical Genetics · 2021 · 62 citations · Full text