Associated Papers
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
The clinical utility of rapid exome sequencing in a consanguineous population.
Monies D et al.
Genome Medicine, 2023
TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.
Dasouki M et al.
Clinical and Experimental Immunology, 2020
Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.
Al-Mousa H et al.
The Journal of Allergy and Clinical Immunology, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
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