Associated Papers
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
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
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM4_ESM.xlsx › Table_S3
Novel mutations in PATL2 cause female infertility with oocyte germinal vesicle arrest.
Huang L et al.
Human Reproduction (oxford, England), 2018
Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2.
Maddirevula S et al.
American Journal of Human Genetics, 2017
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