Author
University Hospital of GenevaORCID 0009-0000-6149-2684Unclaimed ORCID profile · follow to get notified of new preprints
4 papers
Recent·Most cited
Jérémie Courraud, Eric Chater‐Diehl, Benjamin Durand…·Amélie Piton
The paper reclassifies DYRK1A variants using an integrative approach, showing some previously reported pathogenic variants do not cause obvious phenotypes.
Aude Molinard‐Chenu, Joël Fluss, Sacha Laurent…·Alexandre G. Dayer
The paper identifies a mutation in the MCF2 gene linked to congenital bilateral perisylvian syndrome and shows it impairs cortical neuronal migration in mice.
Georgios Stamoulis, Marco Garieri, Periklis Makrythanasis…·Stylianos E. Antonarakis
The paper uses single-cell transcriptomes to analyze gene dosage imbalance in aneuploidies, revealing both temporal and spatial dimensions of gene expression changes in trisomies.
Chiara Fabbri, Katherine E. Tansey, Roy H. Perlis…·Cathryn M. Lewis
This study identifies two SNPs associated with antidepressant response in GENDEP and STAR*D studies but finds limited replication in independent cohorts.