S. Kalantar

Identification of two pathogenic guanidinoacetate methyltransferase variants in patients with intellectual disability: clinical and molecular insights

The findings highlight the importance of considering GAMT deficiency among the potentially treatable causes of unexplained intellectual disability, particularly when neurodevelopmental manifestations are accompanied by biochemical evidence of disturbed creatine metabolism.

Co-existence of CLCN1 and DNM2 variants in a phenotype overlapping myotonia and myopathy

Non-invasive embryo assessment: Cell-free DNA-based genetic testing and amino acid metabolomics in relation to morphology: A case-control study

Abstract Background Cell-free DNA (cfDNA) in spent culture medium (SCM) offers a non-invasive option for preimplantation genetic testing, but its low concentration and fragmentation reduce clinical reliability. Combining genetic assessment with metabolomic profiling may provide complementary information about embryo co...

Whole-genome sequencing identifies a potentially causative homozygous splicing variant in RAD54 like in non-obstructive azoospermia

This study proposes RAD54L as a potential novel candidate gene linked to NOA and underscores the efficacy of WGS in identifying rare genetic etiologies of idiopathic male infertility.