Mara Cavallin

Delineating <i>FOXG1</i> syndrome

Nancy Végas, Mara Cavallin, Camille Maillard et al. · Neurology Genetics · 2018 · 77 citations · Full text

Life Sciences, Genetics, Neuroscience +17

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 · 60 citations · Full text

Life Sciences, Genetics, Neuroscience +17

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

Medicine, Pathology, Craniofacial Development +8

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 · 36 citations · Full text

Life Sciences, Genetics, Neuroscience +14

Rare ACTG1 variants in fetal microlissencephaly

Karine Poirier, Jelena Martinović, A. Laquérrière et al. · European Journal of Medical Genetics · 2015 · 32 citations

Medicine, Genetics, Molecular Genetics +14