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
Early infantile epileptic encephalopathy related to NECAP1: Clinical delineation of the disease and review.
Chouery E et al.
European Journal of Neurology, 2022
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
The landscape of early infantile epileptic encephalopathy in a consanguineous population.
Nashabat M et al.
Seizure, 2019
A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21.
Mizuguchi T et al.
Journal of Human Genetics, 2019
Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy.
Alsahli S et al.
Epilepsia Open, 2018
NECAP1 loss of function leads to a severe infantile epileptic encephalopathy.
Alazami AM et al.
Journal of Medical Genetics, 2014
Applying filtration steps to interpret the results of whole-exome sequencing in a consanguineous population to achieve a high detection rate.
Alfares AA
International Journal of Health Sciences, 0
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