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.· International Journal of Rep...· 0 citations
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.· International Journal of Rep...· 0 citations
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.· Journal of Applied Genetics· 0 citations
The co-occurrence of variants in AKAP4 and RNF220 may suggest an oligogenic etiology of NOA and contribute to the phenotypic variability associated with AKAP4 variants.
Razieh Ebrahimi Askari, A. Malcher, Fateme Sefid et al.· International Journal of Mol...· 0 citations
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