Dominique Carles

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

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

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Justyna A. Karolak, Marie Vincent, Gail Deutsch et al. · The American Journal of Human Genetics · 2019 · 162 citations · Full text

Developmental Biology, Pulmonary Pathology, Medicine +7

Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly

Sandrine Vuillaumier‐Barrot, C. Bouchet-Séraphin, M. Chelbi et al. · The American Journal of Human Genetics · 2012 · 138 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +6

Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases

Homa Adle‐Biassette, Pascale Saugier-Véber, Catherine Fallet‐Bianco et al. · Acta Neuropathologica · 2013 · 124 citations · Full text

Unknown Molecular Bases, Neurobiology Of Disease, Neurogenomics +14

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