Stéphanie Valence

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

Karine Poirier, Nicolas Lebrun, Loïc Broix et al. · Nature Genetics · 2013 · 488 citations · Full text

Developmental Anomaly, Developmental Biology, Brain Development +9

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

Nadia Bahi‐Buisson, Karine Poirier, Franck J. Fourniol et al. · Brain · 2014 · 307 citations · Full text

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L. Dixon, Hui Guo et al. · Nature Communications · 2019 · 236 citations · Full text

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Katherine L. Helbig, Robert J. Lauerer, Jacqueline C Bahr et al. · The American Journal of Human Genetics · 2018 · 145 citations · Full text

Epileptic Encephalopathy, Neurobiology Of Disease, Pathogenesis +10

A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience

Mélanie Rama, Claire Duflos, Isabelle Melki et al. · European Journal of Human Genetics · 2018 · 88 citations · Full text

Genetic Diagnosis, Genetic Testing, Decision Tree +12