Over the past decade high‐throughput DNA sequencing approaches, namely whole exome
and whole genome sequencing became a standard procedure in Mendelian disease …

Danon disease is a rare x-linked dominant multisystemic disorder with a clinical triad of
severe cardiomyopathy, skeletal myopathy, and intellectual disability. It is caused by defects …

Purpose HNRNPU haploinsufficiency is associated with developmental and epileptic
encephalopathy 54. This neurodevelopmental disorder is characterized by developmental …

Mowat-Wilson syndrome (MOWS) is a rare congenital disease caused by haploinsufficiency
of ZEB2, encoding a transcription factor required for neurodevelopment. MOWS is …

JARID2 (Jumonji, AT-rich interactive domain 2) haploinsufficiency is associated with a
clinically distinct neurodevelopmental syndrome. It is characterized by intellectual disability …

Mendelian disorders, arising from pathogenic variations within single genetic loci, often
manifest as neurodevelopmental disorders (NDDs), affecting a significant portion of the …

Abstract Purpose Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder
caused by pathogenic variants in USP7. HAFOUS is characterized by developmental delay …

Background: LINC00518 acts as an oncogene in several cancers, but its function in head
and neck squamous cell carcinoma (HNSCC) remains unclear. Materials & methods: The …

Chung-Jansen syndrome is a neurodevelopmental disorder characterized by intellectual
disability, behavioral problems, obesity and dysmorphic features. It is caused by pathogenic …

Analysis of genomic DNA methylation by generating epigenetic signature profiles
(episignatures) is increasingly being implemented in genetic diagnosis. Here we report our …