Sara Cabet

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi et al. · The American Journal of Human Genetics · 2021 · 80 citations · Full text

Down Syndrome, Deletion Syndrome, Developmental Biology +11

A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants

Nicolas Chatron, Sara Cabet, Eudéline Alix et al. · Brain · 2019 · 29 citations · Full text

Developmental Biology, Disease Mechanism, Mendelian Disorder +14

Two different prenatal imaging cerebral patterns of tubulinopathy

Sara Cabet, K. Karl, Cathérine Garel et al. · Ultrasound in Obstetrics and Gynecology · 2020 · 22 citations · Full text

Affected Fetuses, Social Sciences, Embryology +18

Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment

Sara Cabet, Gaëtan Lesca, Audrey Labalme et al. · European Journal of Medical Genetics · 2020 · 18 citations · Full text

Developmental Biology, Syndromic Autism, Medicine +9

Description of a novel patient with the TRPM3 recurrent p.Val837Met variant

Lucas W. Gauthier, Nicolas Chatron, Sara Cabet et al. · European Journal of Medical Genetics · 2021 · 17 citations · Full text

Translational Medicine, Pathology, Novel Patient +4