Associated Papers
Genetic landscape of human oocyte/embryo defects.
Chen B et al.
Cell Genomics, 2026
41005306 (PubMed )
Supplement: mmc3.xlsx › Table_S2
Comprehensive Analysis of Human Colorectal Cancers Harboring Polymerase Epsilon Mutations.
Gibson LM et al.
International Journal of Molecular Sciences, 2025
40806338 (PubMed )
Supplement: ijms-26-07208-s001.zip › Table_S2.xlsx › Colorectal_CHASM_p-values
Exploring the role of non-canonical splice site variants in aberrant splicing associated with reproductive genetic disorders.
Zhou L et al.
Clinical Genetics, 2024
Novel PATL2 variants cause female infertility with oocyte maturation defect.
Hu HY et al.
Journal of Assisted Reproduction and Genetics, 2024
High carrier frequency of pathogenic PATL2 gene mutations predicted in population: a bioinformatics-based approach.
Zhou H et al.
Frontiers in Genetics, 2023
Identification and characterization of a novel homozygous splice site variant of PATL2 causing female infertility due to oocyte germinal vesicle arrest.
Sun L et al.
Frontiers in Genetics, 2022
Meiosis interrupted: the genetics of female infertility via meiotic failure.
Biswas L et al.
Reproduction (cambridge, England), 2021
Novel mutations in PATL2: expanding the mutational spectrum and corresponding phenotypic variability associated with female infertility.
Wu L et al.
Journal of Human Genetics, 2019
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