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Author

N. Ghasemi

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Open access Sep 2026

Rare missense variants identified by whole-genome sequencing in men with oligoasthenoteratozoospermia: An experimental study

Background: Oligoasthenoteratozoospermia (OAT) is a major cause of male infertility, characterized by low sperm count, poor motility, and abnormal morphology. While genetic factors contribute to a substantial proportion of cases, the specific variants underlying OAT remain largely unknown, especially in populations wit...

Sara Sadeghzadeh, A. Malcher, Razieh Ebrahimi Askari et al. · 0 citations
Open access Jun 2026

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...

Maliheh Jahanara, H. Sharifiyazdi, S. Kalantar et al. · 0 citations
Open access Jul 2026

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.

Razieh Ebrahimi Askari, A. Malcher, Sara Sadeghzadeh et al. · 0 citations
Open access Jul 2026

Identification of novel variants in SSX1, CPNE1, and SPTBN5 in men with oligoasthenoteratozoospermia using whole-genome sequencing.

Rare candidate variants in SSX1, CPNE1, and SPTBN5 that may potentially be associated with the molecular basis of oligoasthenoteratozoospermia are identified and support the application of WGS in unresolved male infertility.

Sara Sadeghzadeh, A. Malcher, Razieh Ebrahimi Askari et al. · 0 citations

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