Associated Papers
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
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_MOESM4_ESM.xlsx › Sheet1
A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females.
Loeuillet C et al.
Clinical Genetics, 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
Evaluation of a Custom Design Gene Panel as a Diagnostic Tool for Human Non-Syndromic Infertility.
Okutman O et al.
Genes, 2021
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
PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice.
Christou-Kent M et al.
Embo Molecular Medicine, 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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