Associated Papers
Identification of a novel de novo PUF60 variant causing Verheij syndrome in a fetus.
Miao M et al.
Gene, 2024
First report of tethered cord syndrome in a patient with Verheij syndrome.
Kocaaga A et al.
Ophthalmic Genetics, 2023
Cancer-Associated Substitutions in RNA Recognition Motifs of PUF60 and U2AF65 Reveal Residues Required for Correct Folding and 3' Splice-Site Selection.
Kralovicova J et al.
Cancers, 2020
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
29788428 (PubMed )
Supplement: gky389_supplemental_files.zip › 60-ms-SUPPLEMENT-R.pdf
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
Genetic causes of optic nerve hypoplasia.
Chen CA et al.
Journal of Medical Genetics, 2017
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
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
SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.
Dauber A et al.
American Journal of Human Genetics, 2013
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