Associated Papers
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders.
Riquin K et al.
Journal of Medical Genetics, 2023
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Thomas Q et al.
American Journal of Human Genetics, 2022
OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants.
Colin E et al.
Frontiers in Cell and Developmental Biology, 2022
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