Associated Papers
PADI6: What we know about the elusive fifth member of the peptidyl arginine deiminase family.
Williams JPC et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2023
Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach.
Bilo L et al.
Clinical Epigenetics, 2023
36859312 (PubMed )
Supplement: 13148_2023_1453_MOESM1_ESM.xlsx › 7__WES_results
Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith-Wiedemann progeny.
Tannorella P et al.
Clinical Epigenetics, 2022
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
Eggermann T et al.
Clinical Epigenetics, 2022
Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure.
Eggermann T
Geburtshilfe Und Frauenheilkunde, 2021
Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family.
Eggermann T et al.
European Journal of Human Genetics : Ejhg, 2021
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