Expanding the genetic and phenotypic spectrum of the subcortical maternal complex genes in recurrent preimplantation embryonic arrest

Expanding the genetic and phenotypic spectrum of female infertility caused by TLE6 mutations

(2020) Jing Lin et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

A novel homozygous variant in NLRP5 is associate with human early embryonic arrest in a consanguineous Chinese family

(2020) Yao Xu et al.   CLINICAL GENETICS

A genomics approach to females with infertility and recurrent pregnancy loss

(2020) Sateesh Maddirevula et al.   HUMAN GENETICS

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

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

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

(2019) Wei Zheng et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

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

(2019) Hannah Demond et al.   Genome Medicine

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

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

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

(2018) Xueqian Wang et al.   REPRODUCTIVE BIOMEDICINE ONLINE

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

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

Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest

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

The human knockout phenotype ofPADI6is female sterility caused by cleavage failure of their fertilized eggs

(2016) S. Maddirevula et al.   CLINICAL GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

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

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

Identification of a human subcortical maternal complex

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

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

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

National, Regional, and Global Trends in Infertility Prevalence Since 1990: A Systematic Analysis of 277 Health Surveys

(2012) Maya N. Mascarenhas et al.   PLOS MEDICINE

Maternal control of early mouse development

(2010) L. Li et al.   DEVELOPMENT

A Subcortical Maternal Complex Essential for Preimplantation Mouse Embryogenesis

(2008) Lei Li et al.   DEVELOPMENTAL CELL