Open access
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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Aug 2026
Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients.
This nationwide study expands the genotype-phenotype spectrum of Sotos and Malan syndromes in Türkiye and supports improved diagnostic and clinical management strategies.
Ceren Yılmaz Uzman, Semra Gürsoy, F. Hazan et al.
· Clinical Genetics · 0 citations
Open access
Aug 2026
The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome
AGO2 is established as a pivotal regulator of neurodevelopment whose structural integrity is essential for precise miRNA-mediated gene regulation and isomiR generation, and occurrence of gonadal mosaicism is reported and revealed.
Debora Tibbe, Christina Kiel, Olena Ielesicheva et al.
· Genome Medicine · 0 citations