Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances

Co-occurrence of Beckwith–Wiedemann Syndrome and colorectal cancer in a young woman

Co-occurrence of Beckwith-Wiedemann syndrome and Pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?

A maternal-effect Padi6 variant causes nuclear and cytoplasmic abnormalities in oocytes as well as failure of epigenetic reprogramming and zygotic genome activation in embryos [scRNA-seq]

Generation of a novel iPSC-based model to explore the molecular and functional phenotype of a rare genetic immunodeficiency, the ICF syndrome type 2.