As part of the third French National Plan for Rare Diseases, the AnDDI-Rares network initiated a nationwide study in 2019 to assess how diagnostic practices for developmental anomalies have evolved over the last decade (2012-2022), in the context of the implementation of genome sequencing (GS) capabilities via the Fran...
J. Maraval, Céline Dampfhoffer, Antoine Journé et al.· European Journal of Human Ge...· 0 citations
Therapeutic advances and the rapid, cost-effective development of next-generation sequencing (NGS) have increased interest in expanding newborn screening (NBS) through genomics. The SeDeN-p2 study assessed the acceptability among healthcare professionals in France, of expanding NBS, particularly with genetics as a firs...
Camille Level, Frédéric Huet, Dominique Salvi et al.· European Journal of Human Ge...· 0 citations
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.· EMBO Molecular Medicine· 0 citations
This represents the most comprehensive characterization to date of TRND, a novel neurodevelopmental disorder, defining its genotypic and phenotypic spectrum.
Sally Nijim, Mimi Kim, Melissa Denish et al.· Genetics in Medicine· 1 citation
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