Novel pathogenic variants in NLRP7 , NLRP5 , and PADI6 in patients with recurrent hydatidiform moles and reproductive failure

Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance

(2020) Maria Vittoria Cubellis et al.   Clinical Epigenetics

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

(2020) Thomas Eggermann et al.   EUROPEAN JOURNAL OF HUMAN 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

Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles

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

The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients

(2018) Ngoc Minh Phuong Nguyen et al.   MODERN PATHOLOGY

Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest

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

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

A Subcortical Maternal Complex Essential for Preimplantation Mouse Embryogenesis

(2008) Lei Li et al.   DEVELOPMENTAL CELL