David Gentien

Somatic instability of the C9orf72 repeat expansion in blood differs between patients with amyotrophic lateral sclerosis or frontotemporal dementia.

This study uses optical genome mapping to analyze C9orf72 repeat expansion instability in blood from ALS and FTD patients, finding age-dependent differences in repeat size dynamics between conditions.

Multi-omics comparison of malignant and normal uveal melanocytes reveals novel molecular features of uveal melanoma.

The paper uses multi-omics analysis to compare malignant and normal uveal melanocytes, identifying genomic instability and a BAP1 promoter deletion as key features of uveal melanoma.

Blind exploration of the unreferenced transcriptome reveals novel RNAs for prostate cancer diagnosis

The paper introduces a reference-free computational method to identify novel RNAs for prostate cancer diagnosis, finding that 9 unannotated lncRNAs outperform existing biomarkers.

Molecular insights into the pathways underlying naked mole-rat eusociality

This study identifies gene expression differences in NMR brain and gonads across reproductive castes, linking dopamine pathways and hyperprolactinaemia to eusocial reproductive suppression.