Associated Papers
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_MOESM10_ESM.xlsx › Sheet1
A PUS7 gene pathogenic variant causing self-injurious behavior, sleep disturbances, and developmental delay: A case report.
Muda A et al.
American Journal of Medical Genetics. Part A, 2023
The importance of pseudouridylation: human disorders related to the fifth nucleoside.
Keszthelyi TM et al.
Biologia Futura, 2023
The human pseudouridine synthase PUS7 recognizes RNA with an extended multi-domain binding surface.
Guegueniat J et al.
Nucleic Acids Research, 2021
Next generation sequencing reveals novel homozygous frameshift in PUS7 and splice acceptor variants in AASS gene leading to intellectual disability, developmental delay, dysmorphic feature and microcephaly.
Naseer MI et al.
Saudi Journal of Biological Sciences, 2020
PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly.
Shaheen R et al.
Human Genetics, 2019
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