Caroline Racine

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

Marcello Scala, Masashi Nishikawa, Hidenori Ito et al. · Brain · 2022 · 51 citations · Full text

Life Sciences, Genetics, Neuroscience +17

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

Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON

Alexander J.M. Dingemans, Kim M. G. Truijen, Jung‐Hyun Kim et al. · European Journal of Human Genetics · 2021 · 40 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

UNC45A deficiency causes microvillus inclusion disease–like phenotype by impairing myosin VB–dependent apical trafficking

Rémi Duclaux‐Loras, Corinne Lebreton, Jérémy Berthelet et al. · Journal of Clinical Investigation · 2022 · 30 citations · Full text

Life Sciences, Genetics, Pathology +13

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

Frédéric Tran Mau‐Them, Julian Delanne, Anne‐Sophie Denommé‐Pichon et al. · Frontiers in Genetics · 2023 · 24 citations · Full text

Medicine, Genetics, Obstetrics +16