Associated Papers
A Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay.
Maharjan DT et al.
Biomolecules, 2022
36358993 (PubMed )
Supplement: biomolecules-12-01643-s001.zip › Supplemental_Table_S2____PsychiPPI_in_developmental_delay.xlsx › Sheet1
EEF1A2 pathogenic variant presenting in an infant with failure to thrive and frequent apneas requiring respiratory support.
Vogt LM et al.
American Journal of Medical Genetics. Part A, 2022
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Dawidziuk M et al.
Genes, 2021
34946966 (PubMed )
Supplement: genes-12-02014-s001.zip › Supplementary_Table_S1_Patients_details.xlsx › Patients
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
On the Need to Tell Apart Fraternal Twins eEF1A1 and eEF1A2, and Their Respective Outfits.
Mills A et al.
International Journal of Molecular Sciences, 2021
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy.
Carvill GL et al.
Human Mutation, 2020
The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing.
Wang J et al.
Bmc Medical Genomics, 2020
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.
Cao Y et al.
Genome Medicine, 2019
The role of translation elongation factor eEF1 subunits in neurodevelopmental disorders.
McLachlan F et al.
Human Mutation, 2019
Successful treatment of choreo-athetotic movements in a patient with an EEF1A2 gene variant.
Lance EI et al.
Sage Open Medical Case Reports, 2018
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