Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family

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New biallelic mutations in PADI6 cause recurrent preimplantation embryonic arrest characterized by direct cleavage

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A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation

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The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype

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Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles

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Maternal variants inNLRPand other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

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Novel mutations in genes encoding subcortical maternal complex proteins may cause human embryonic developmental arrest

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Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring

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Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest

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Role for PADI6 in securing the mRNA-MSY2 complex to the oocyte cytoplasmic lattices

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Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans

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Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

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Regulation of mouse oocyte microtubule and organelle dynamics by PADI6 and the cytoplasmic lattices

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Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci

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Role for PADI6 and the cytoplasmic lattices in ribosomal storage in oocytes and translational control in the early mouse embryo

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Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

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