Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith–Wiedemann progeny

The subcortical maternal complex: emerging roles and novel perspectives

(2021) Daniela Bebbere et al.   MOLECULAR HUMAN REPRODUCTION

Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences

(2020) Miriam Elbracht et al.   HUMAN REPRODUCTION UPDATE

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

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

(2019) Angela Sparago et al.   Clinical Epigenetics

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

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

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

(2018) Frédéric Brioude et al.   Nature Reviews Endocrinology

Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest

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

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

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

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

(2009) Esther Meyer et al.   PLoS Genetics