Associated Papers
Genetic landscape of human oocyte/embryo defects.
Chen B et al.
Cell Genomics, 2026
41005306 (PubMed )
Supplement: mmc3.xlsx › Table_S2
A novel PADI6 splice-site variant induces non-canonical GC-AG splicing and embryonic arrest in humans.
Hu H et al.
Functional & Integrative Genomics, 2025
Structural insight into the function of human peptidyl arginine deiminase 6.
Williams JPC et al.
Computational and Structural Biotechnology Journal, 2024
39286527 (PubMed )
Supplement: mmc3.xlsx › Fig_6B
PADI6: What we know about the elusive fifth member of the peptidyl arginine deiminase family.
Williams JPC et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2023
Novel biallelic mutations in PADI6 in patients with early embryonic arrest.
Dong J et al.
Journal of Human Genetics, 2022
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
Eggermann T et al.
Clinical Epigenetics, 2022
DNA Methylation Dynamics in the Female Germline and Maternal-Effect Mutations That Disrupt Genomic Imprinting.
Anvar Z et al.
Genes, 2021
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance.
Cubellis MV et al.
Clinical Epigenetics, 2020
32928291 (PubMed )
Supplement: 13148_2020_925_MOESM8_ESM.xlsx › Foglio1_
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.
Begemann M et al.
Journal of Medical Genetics, 2018
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