Marie Faoucher

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

Scott Barish, Tahsin Stefan Barakat, Brittany C. Michel et al. · The American Journal of Human Genetics · 2020 · 48 citations · Full text

Life Sciences, Genetics, Molecular Biology +8

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Caroline Nava, Benjamin Cogné, Elsa Leitão et al. · Nature Genetics · 2025 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

Susan M. Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano et al. · The American Journal of Human Genetics · 2022 · 19 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

LHX2 haploinsufficiency causes a variable neurodevelopmental disorder

Cosima M. Schmid, Anne Gregor, Gregory Costain et al. · Genetics in Medicine · 2023 · 19 citations · Full text

Medicine, Genetics, Molecular Genetics +14

FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects

Auriane Cospain, Ana Rivera‐Barahona, Erwan Dumontet et al. · Genetics in Medicine · 2022 · 17 citations · Full text

Life Sciences, Craniofacial Biology, Genetics +16