Associated Papers
Identification of a novel de novo PUF60 variant causing Verheij syndrome in a fetus.
Miao M et al.
Gene, 2024
PUF60-activated exons uncover altered 3' splice-site selection by germline missense mutations in a single RRM.
Královicová J et al.
Nucleic Acids Research, 2018
Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
Zhao JJ et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2018
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
Nature Communications, 2017
29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.
El Chehadeh S et al.
European Journal of Human Genetics : Ejhg, 2016
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