Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles

Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans

Sharlene Murdoch, Ugljesa Djuric, Batool Mazhar et al. · Nature Genetics · 2006 · 472 citations

Biology, Genetics, Pathology +4

A Subcortical Maternal Complex Essential for Preimplantation Mouse Embryogenesis

Lei Li, Boris Baibakov, Jurrien Dean · Developmental Cell · 2008 · 321 citations · Full text

Developmental Biology, Preimplantation Mouse Embryogenesis, Morphogenesis +4

Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)

Esther Meyer, Derek Lim, Shanaz Pasha et al. · PLoS Genetics · 2009 · 318 citations · Full text

Genetics, Genetic Epidemiology, Pathology +18

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

David Parry, Clare V. Logan, Bruce E. Hayward et al. · The American Journal of Human Genetics · 2011 · 246 citations · Full text

Chromatin, Human Oocyte, Developmental Biology +13

Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest

Yao Xu, Yingli Shi, Jing Fu et al. · The American Journal of Human Genetics · 2016 · 236 citations · Full text

Infertility, Developmental Biology, Fertility +13