Associated Papers
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Husain RA et al.
Brain : a Journal of Neurology, 2024
The first case of intellectual disability caused by novel compound heterozygosity for NUDT2 variants.
Bi B et al.
Bmc Pediatrics, 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
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Sadikovic B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33547396 (PubMed )
Supplement: 41436_2020_1096_MOESM3_ESM.xlsx › Clinical
Novel NUDT2 variant causes intellectual disability and polyneuropathy.
Diaz F et al.
Annals of Clinical and Translational Neurology, 2020
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
32680510 (PubMed )
Supplement: 12920_2020_743_MOESM3_ESM.xlsx › Sheet1
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM4_ESM.xlsx › Table_S3
A founder nonsense variant in NUDT2 causes a recessive neurodevelopmental disorder in Saudi Arab children.
Yavuz H et al.
Clinical Genetics, 2018
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
Anazi S et al.
Molecular Psychiatry, 2017
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