Associated Papers
Genetic landscape of human oocyte/embryo defects.
Chen B et al.
Cell Genomics, 2026
41005306 (PubMed )
Supplement: mmc3.xlsx › Table_S2
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
High carrier frequency of pathogenic PATL2 gene mutations predicted in population: a bioinformatics-based approach.
Zhou H et al.
Frontiers in Genetics, 2023
Gene mutations impede oocyte maturation, fertilization, and early embryonic development.
Fei CF et al.
Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2022
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
Novel mutations in PATL2 cause female infertility with oocyte germinal vesicle arrest.
Huang L et al.
Human Reproduction (oxford, England), 2018
Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest.
Chen B et al.
American Journal of Human Genetics, 2017
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