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

Genomic imprinting disorders: lessons on how genome, epigenome and environment interact

(2019) David Monk et al.   NATURE REVIEWS GENETICS

Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrest

(2019) Jian Mu et al.   JOURNAL OF MEDICAL GENETICS

SETD2 regulates the maternal epigenome, genomic imprinting and embryonic development

(2019) Qianhua Xu et al.   NATURE GENETICS

Resetting histone modifications during human parental-to-zygotic transition

(2019) Weikun Xia et al.   SCIENCE

Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility

(2018) Qing Sang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles

(2018) JianHua Qian et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Epigenetic regulation in development: is the mouse a good model for the human?

(2018) Courtney W Hanna et al.   HUMAN REPRODUCTION UPDATE

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

(2018) Matthias Begemann et al.   JOURNAL OF MEDICAL GENETICS

Metaphase II oocytes from human unilaminar follicles grown in a multi-step culture system

(2018) M McLaughlin et al.   MOLECULAR HUMAN REPRODUCTION

MLL2 conveys transcription-independent H3K4 trimethylation in oocytes

(2018) Courtney W. Hanna et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

MLL2 conveys transcription-independent H3K4 trimethylation in oocytes

(2018) Courtney W. Hanna et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Integrative single-cell analysis of transcriptome, DNA methylome and chromatin accessibility in mouse oocytes

(2018) Chan Gu et al.   CELL RESEARCH

Stella safeguards the oocyte methylome by preventing de novo methylation mediated by DNMT1

(2018) Yingfeng Li et al.   NATURE

Single-cell DNA methylome sequencing of human preimplantation embryos

(2017) Ping Zhu et al.   NATURE GENETICS

A Maternal Functional Module in the Mammalian Oocyte-To-Embryo Transition

(2017) Xukun Lu et al.   TRENDS IN MOLECULAR MEDICINE

Transcription and chromatin determinants of de novo DNA methylation timing in oocytes

(2017) Lenka Gahurova et al.   Epigenetics & Chromatin

Maternally expressed NLRP2 links the subcortical maternal complex (SCMC) to fertility, embryogenesis and epigenetic reprogramming

(2017) Sangeetha Mahadevan et al.   Scientific Reports

Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest

(2016) Yao Xu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pervasive polymorphic imprinted methylation in the human placenta

(2016) Courtney W. Hanna et al.   GENOME RESEARCH

Parallel single-cell sequencing links transcriptional and epigenetic heterogeneity

(2016) Christof Angermueller et al.   NATURE METHODS

Dynamic changes in histone modifications precede de novo DNA methylation in oocytes

(2015) Kathleen R. Stewart et al.   GENES & DEVELOPMENT

Continuous Histone Replacement by Hira Is Essential for Normal Transcriptional Regulation and De Novo DNA Methylation during Mouse Oogenesis

(2015) Buhe Nashun et al.   MOLECULAR CELL

ZFP57 recognizes multiple and closely spaced sequence motif variants to maintain repressive epigenetic marks in mouse embryonic stem cells

(2015) Zahra Anvar et al.   NUCLEIC ACIDS RESEARCH

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

(2015) Louise E. Docherty et al.   Nature Communications

Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting

(2015) Marta Sanchez-Delgado et al.   PLoS Genetics

Forced expression of DNA methyltransferases during oocyte growth accelerates the establishment of methylation imprints but not functional genomic imprinting

(2014) Satoshi Hara et al.   HUMAN MOLECULAR GENETICS

Identification of a human subcortical maternal complex

(2014) K. Zhu et al.   MOLECULAR HUMAN REPRODUCTION

Structural insight into autoinhibition and histone H3-induced activation of DNMT3A

(2014) Xue Guo et al.   NATURE

The DNA methylation landscape of human early embryos

(2014) Hongshan Guo et al.   NATURE

Single-cell genome-wide bisulfite sequencing for assessing epigenetic heterogeneity

(2014) Sébastien A Smallwood et al.   NATURE METHODS

The subcortical maternal complex controls symmetric division of mouse zygotes by regulating F-actin dynamics

(2014) Xing-Jiang Yu et al.   Nature Communications

Genome-Wide Analysis of DNA Methylation Dynamics during Early Human Development

(2014) Hiroaki Okae et al.   PLoS Genetics

CrossMap: a versatile tool for coordinate conversion between genome assemblies

(2013) Hao Zhao et al.   BIOINFORMATICS

ChAMP: 450k Chip Analysis Methylation Pipeline

(2013) Tiffany J. Morris et al.   BIOINFORMATICS

Genetic programs in human and mouse early embryos revealed by single-cell RNA sequencing

(2013) Zhigang Xue et al.   NATURE

Mouse Oocyte Methylomes at Base Resolution Reveal Genome-Wide Accumulation of Non-CpG Methylation and Role of DNA Methyltransferases

(2013) Kenjiro Shirane et al.   PLoS Genetics

Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7

(2012) Ramesh Reddy et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

New insights into establishment and maintenance of DNA methylation imprints in mammals

(2012) G. Kelsey et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Contribution of Intragenic DNA Methylation in Mouse Gametic DNA Methylomes to Establish Oocyte-Specific Heritable Marks

(2012) Hisato Kobayashi et al.   PLoS Genetics

SWAN: Subset-quantile Within Array Normalization for Illumina Infinium HumanMethylation450 BeadChips

(2012) Jovana Maksimovic et al.   GENOME BIOLOGY

Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte

(2011) David A. Parry et al.   AMERICAN JOURNAL OF HUMAN GENETICS

In Embryonic Stem Cells, ZFP57/KAP1 Recognize a Methylated Hexanucleotide to Affect Chromatin and DNA Methylation of Imprinting Control Regions

(2011) Simon Quenneville et al.   MOLECULAR CELL

Dynamic CpG island methylation landscape in oocytes and preimplantation embryos

(2011) Sébastien A Smallwood et al.   NATURE GENETICS

Transcription Is Required to Establish Maternal Imprinting at the Prader-Willi Syndrome and Angelman Syndrome Locus

(2011) Emily Y. Smith et al.   PLoS Genetics

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

Genetic evidence for Dnmt3a-dependent imprinting during oocyte growth obtained by conditional knockout withZp3-Cre and complete exclusion of Dnmt3b by chimera formation

(2010) Masahiro Kaneda et al.   GENES TO CELLS

The NIH Roadmap Epigenomics Mapping Consortium

(2010) Bradley E Bernstein et al.   NATURE BIOTECHNOLOGY

Transcription is required for establishment of germline methylation marks at imprinted genes

(2009) M. Chotalia et al.   GENES & DEVELOPMENT

KDM1B is a histone H3K4 demethylase required to establish maternal genomic imprints

(2009) David N. Ciccone et al.   NATURE

A Subcortical Maternal Complex Essential for Preimplantation Mouse Embryogenesis

(2008) Lei Li et al.   DEVELOPMENTAL CELL

A Maternal-Zygotic Effect Gene, Zfp57, Maintains Both Maternal and Paternal Imprints

(2008) Xiajun Li et al.   DEVELOPMENTAL CELL

A two-step serum-free culture system supports development of human oocytes from primordial follicles in the presence of activin

(2008) E. E. Telfer et al.   HUMAN REPRODUCTION

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

(2008) Deborah J G Mackay et al.   NATURE GENETICS