Associated Papers
Identification of a novel de novo PUF60 variant causing Verheij syndrome in a fetus.
Miao M et al.
Gene, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM4_ESM.xlsx › Sheet1
A Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay.
Maharjan DT et al.
Biomolecules, 2022
36358993 (PubMed )
Supplement: biomolecules-12-01643-s001.zip › Supplemental_Table_S2____PsychiPPI_in_developmental_delay.xlsx › Sheet1
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
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.
Low KJ et al.
European Journal of Human Genetics : Ejhg, 2017
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