Associated Papers
Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.
Borgio JF
Archives of Medical Science : Ams, 2023
C12orf57 pathogenic variants: a unique cause of developmental encephalopathy in a south Indian child.
Alfiya F et al.
Journal of Genetics, 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_MOESM3_ESM.xlsx › Table_S2
Temtamy syndrome caused by a new C12orf57 variant in a Chinese boy, including pedigree analysis and literature review.
Wang Y et al.
Experimental and Therapeutic Medicine, 2020
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.
Alrakaf L et al.
American Journal of Medical Genetics. Part A, 2018
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
Charng WL et al.
Bmc Medical Genomics, 2016
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