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Author

A. Guerrot

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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. · 0 citations
Open access Jul 2026

Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease

The results expand the genetic and clinical spectrum of CLCN3-related disease, provide a solid basis for genetic counseling, and uncover an unexpected link between gating-associated conformational changes and inhibition by TMEM9.

Maya M. Polovitskaya, T. Tkemaladze, L. Jensen et al. · 0 citations
Jun 2026

GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.

Evidence is provided that biallelic GIT1 variants affecting transcript processing or causing premature termination underlie a syndromic neurodevelopmental disorder and an essential role for GIT1 in development and cognitive function is established.

P. Failla, V. Muto, Antonella Lauri et al. · 0 citations

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