David Geneviève

This study links metabolic vulnerability and sleep disturbances in Kleefstra syndrome using FDG-PET/CT imaging and Drosophila models.

The paper shows that chromatin condensates, regulated by MLL4, modulate nuclear mechano-sensing and prevent cGAS-STING activation in Kabuki Syndrome.

The paper identifies PSMC5 variants causing neurodevelopmental disorders and shows their impact on neuronal function and immune signaling, suggesting therapeutic targets.

The paper identifies CHD1L as a key regulator of neurodevelopmental processes, showing its role in shaping neuroanatomical and growth phenotypes linked to 1q21.1 copy number variants.

This study identifies ZFHX4 loss-of-function variants as a cause of a neurodevelopmental disorder with distinctive facial features and brain abnormalities, supported by zebrafish models.

This study evaluates genome-wide DNA methylation analysis in genetically unsolved DEEs, identifying 10 causative or candidate genetic causes and refining a CHD2 episignature.

This paper evaluates deep learning methods for translating, de-identifying, and summarizing non-English medical reports, finding non-inferior performance in de-identification and high accuracy in summarization.

This paper evaluates exome sequencing as an alternative to chromosomal microarray for detecting copy number variants in rare disorders, showing improved diagnostic yield in prospective cases.

This paper develops a symptom interaction model to address heterogeneous phenotype reporting in genetic disease, improving gene prioritization by 42%.

This study identifies ANKRD11 missense variants as a cause of KBG syndrome by impairing protein stability or transcriptional activity, supporting haploinsufficiency as the underlying mechanism.

Genome Alert! automatically detects changes in variant classifications and gene-disease associations over time, improving clinical interpretation of genomic data with minimal human effort.

The paper reclassifies DYRK1A variants using an integrative approach, showing some previously reported pathogenic variants do not cause obvious phenotypes.