Associated Papers
Defects in mRNA splicing and implications for infertility: a comprehensive review and in silico analysis.
Li K et al.
Human Reproduction Update, 2025
Genetic etiological spectrum of sperm morphological abnormalities.
Arora M et al.
Journal of Assisted Reproduction and Genetics, 2024
Exploring the diverse clinical and variant spectrum of CEP78-associated syndrome: Novel pathogenic variants identified in a case series.
Zhai Y et al.
American Journal of Medical Genetics. Part A, 2024
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2
Loss-of-function mutations in CEP78 cause male infertility in humans and mice.
Zhang X et al.
Science Advances, 2022
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