Associated Papers
RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.
Wong S et al.
Embo Molecular Medicine, 2023
37066513 (PubMed )
Supplement: EMMM-15-e17078-s005.xlsx › Hets
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.
Pignata L et al.
Clinical Epigenetics, 2022
The modular network structure of the mutational landscape of Acute Myeloid Leukemia.
Ibáñez M et al.
Plos One, 2018
30303964 (PubMed )
Supplement: pone.0202926.s006.pdf
Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease.
Kohli MA et al.
Neurology. Genetics, 2016
Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.
Docherty LE et al.
Nature Communications, 2015
26323243 (PubMed )
Supplement: ncomms9086-s1.pdf
Select a paper to view details