Associated Papers
The First Case Report of a Homozygous Consensus Acceptor Splice Variant in the NUP214 Gene Associated With Fetal Hydrops and Arthrogryposis Multiplex.
Tamhankar V et al.
Cureus, 2024
c.202_204del in NUP214 causes late onset form of febrile encephalopathy.
Farooqui S et al.
American Journal of Medical Genetics. Part A, 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_MOESM10_ESM.xlsx › Sheet1
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE et al.
Genome Medicine, 2021
34645488 (PubMed )
Supplement: 13073_2021_973_MOESM1_ESM.xlsx › Sheet1
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
NUP214 deficiency causes severe encephalopathy and microcephaly in humans.
Shamseldin HE et al.
Human Genetics, 2019
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