Author

J. Ghoumid

2 papers indexed here

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Open access Aug 2026

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole‐Exome Sequencing: Insights Into Early‐Onset and Syndromic Forms

The findings support the use of WES as a first-line approach in pediatric CM and highlight the contribution of complex and syndromic genetic architectures to early-onset and severe diseases.

Luana Giovannangeli, Elise Daire, K. Messaoudi et al. · Clinical Genetics · 0 citations

Open access Aug 2026

Neonatal mitochondrial encephalopathy due to a splice-altering variant in COX16

Two siblings born to consanguineous parents who presented with neonatal hypotonia, respiratory failure, lactic acidosis and early death are described, establishing the pathogenicity of a splice-altering COX16 variant and expanding the genetic and phenotypic spectrum of COX16 -related mitochondrial disease.

Nicolas Geoffre, N. Gueguen, Anne-Sophie Guémann et al. · BMJ Connections Clinical Gen... · 0 citations