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Author

Xin Qiu

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Sep 2026

Novel and recurrent TUBB8 variants cause irreversible meiotic spindle defects and refractory ART failure in Chinese women with oocyte maturation arrest.

Routine TUBB8 genetic screening is supported as a valuable diagnostic tool for unexplained recurrent OMA, facilitating early diagnosis, avoidance of futile ART cycles, and personalized reproductive counseling and expands the pathogenic mutational spectrum of TUBB8.

Xin-Jie Zhuang, Yue Li, Ying Lian et al. · 0 citations
Aug 2026

Novel biallelic PATL2 variants causing predominant germinal vesicle arrest and recurrent ART failure: expanded mutational spectrum and evidence-based reproductive counseling guidance.

Biallelic pathogenic PATL2 variants constitute a major monogenic driver of refractory GV-predominant OOMD and complete recurrent ART failure and substantially expands the global spectrum of disease-causing PATL2 variants.

Xin-Jie Zhuang, Yue Li, Xin Qiu et al. · 0 citations

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