Author

O. Patat

h-index 11 View on Semantic Scholar

We have 3 of 39 papers

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

Oct 2026

Identification of novel CDK19 variants and Drosophila-based in vivo functional evidence supporting pathogenicity in neurodevelopmental disorders.

PURPOSE CDK19 (HGNC:19338) is a Mediator-associated kinase that regulates transcription during neurodevelopment. Although CDK19 variants have been linked to neurodevelopmental disorders, the full phenotypic spectrum and underlying pathogenic mechanisms remain incompletely defined. We aimed to further characterize clini...

Hyun Yong Koh, R. Sahu, Sung Dae Kim et al. · Genetics in Medicine · 0 citations

Open access Sep 2026

Genome sequencing improves diagnostic outcomes over panel and exome sequencings in myopathies: findings from the French PFMG2025 initiative

Genome Sequencing showed GS as a valuable and feasible approach allowing the elucidation of complex variants and the discovery of new pathogenic mechanisms in the context of myopathy, as part of a large national scale GS strategy piloted by the French Genomic Medicine Initiative.

Camille Verebi, A. Maino, C. Métay et al. · Genome Medicine · 0 citations

Review Open access Jul 2026

TTC19-related mitochondrial disease: A characteristic neuroimaging signature?

TTC19-related mitochondrial disease leads to a severe neurodegenerative phenotype, characterized by early-onset motor and cognitive delays, with a consistent neuroimaging signature involving the striatum and brainstem.

Claire-Marine Bérat, G. Barcia, P. Gaignard et al. · Molecular Genetics and Metab... · 0 citations