Patat Olivier

4PUBLICATIONS
104CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Developmental genetics (incl. sex determination)Neurology and neuromuscular diseasesCell and nuclear division
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Publications (4)

|Oct 12, 2026
Optimized RNA-seq workflow for routine diagnosis of mitochondrial diseases using aberrant expression analysis and phenotype-driven prioritization.

|Oct 06, 2026
Diagnostic pathways in developmental disorders: a decade-apart comparison of two multicenter cohorts (2012-2022).

|Mar 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Elsa Leitão, Amandine Santini, Benjamin Cogne

|Nov 09, 2024
A second RUBCN variant associated with epileptic encephalopathy and neurodevelopmental delay.

Lodin-Pasquier Magalie, Capri Yline, Patat Olivier

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Frequent Collaborators

2 joint publications

Sylvie Odent

2 joint publications

Gaetan Lesca

2 joint publications

Julien Maraval

2 joint publications

Laurence Faivre