Mara Cavallin

Delineating <i>FOXG1</i> syndrome

Nancy Végas, Mara Cavallin, Camille Maillard et al. · Neurology Genetics · 2018 · 75 citations · Full text

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells

Mara Cavallin, Maria A. Rujano, Nathalie Bednarek et al. · Brain · 2017 · 58 citations · Full text

Brain Development, Neurological Disorder, Genetics +24

Further refinement of COL4A1 and COL4A2 related cortical malformations

Mara Cavallin, Manuèle Miné, Marion Philbert et al. · European Journal of Medical Genetics · 2018 · 44 citations

Developmental Anomaly, Corticobasal Degeneration, Neuroanatomy +6

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement

Sabrina Méchaussier, Basamat Almoallem, Christina Zeitz et al. · The American Journal of Human Genetics · 2020 · 34 citations · Full text

Rare ACTG1 variants in fetal microlissencephaly

Karine Poirier, Jelena Martinović, A. Laquérrière et al. · European Journal of Medical Genetics · 2015 · 31 citations

Developmental Anomaly, Rare Actg1 Variants, Developmental Biology +4