Associated Papers
Arab founder variants: Contributions to clinical genomics and precision medicine.
AlAbdi L et al.
Med (new York, N.y.), 2025
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
A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.
Waseem SS et al.
Genes, 2021
An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.
Shamseldin HE et al.
Human Genetics, 2020
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