Jean‐Madeleine de Sainte Agathe

ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model

Antonio Vitobello, Benoît Mazel, Vera G. Lelianova et al. · The American Journal of Human Genetics · 2022 · 44 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

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Burcu Yaldız, Erdi Küçük, Juliet E. Hampstead et al. · Human Genomics · 2023 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Biallelic <scp><i>AOPEP</i></scp> Loss‐of‐Function Variants Cause Progressive Dystonia with Prominent Limb Involvement

Michael Zech, Kishore R. Kumar, Sophie Reining et al. · Movement Disorders · 2021 · 23 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Brain malformations and seizures by impaired chaperonin function of TRiC

Florian Kraft, Piere Rodriguez-Aliaga, Weimin Yuan et al. · Science · 2024 · 23 citations · Full text

Life Sciences, Molecular Biology, Neuroscience +17