Sep 2026
De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder.
W. Deb, T. Besnard, F. Desprez et al.
· Molecular Psychiatry · 0 citations
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Open access
Aug 2026
Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1.
This work collected cases of HTX investigated by trio-based whole-exome (WES) and whole-genome sequencing (WGS) and performed detailed clinical and molecular characterization in seven children and fetuses from France and Vietnam and revealed significant phenotypic heterogeneity while highlighting strong genotype-phenot...
Thi Bich Tuyen Ho, Alicia Coudert, Thi Thuy Hang Do et al.
· Clinical Genetics · 0 citations
Open access
Jul 2026
CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders
Matthias De Wachter, Mathijs B. van der Lei, Amber Declève et al.
· European Journal of Human Ge... · 1 citation
Open access
Jul 2026
Further characterization of the BRSK2-associated neurodevelopmental disorder.
Variants in BRSK2, encoding brain specific kinase-2, have recently been associated with an autosomal dominant neurodevelopmental disorder (NDD). We have assembled 52 cases with heterozygous BRSK2 variants and variable neurodevelopmental phenotypes with frequent neuropsychiatric and behavioral symptoms. The variant spec...
Palak Singhal, Tzung-Chien Hsieh, Nadja Ehmke et al.
· European Journal of Human Ge... · 0 citations