Associated Papers
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Yuan B et al.
Genome Medicine, 2022
36180924 (PubMed )
Supplement: 13073_2022_1113_MOESM1_ESM.xlsx › Table_S6
Mutations in genes encoding regulators of mRNA decapping and translation initiation: links to intellectual disability.
Weil D et al.
Biochemical Society Transactions, 2020
Integrative bioinformatics analysis characterizing the role of EDC3 in mRNA decay and its association to intellectual disability.
Scheller U et al.
Bmc Medical Genomics, 2018
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Reuter MS et al.
Jama Psychiatry, 2017
The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.
Khan MA et al.
Annals of Human Genetics, 2016
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.
Ahmed I et al.
Human Molecular Genetics, 2015
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