Associated Papers
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts P et al.
Genome Medicine, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Three Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features.
Alghamdi HA et al.
Journal of Clinical Immunology, 2018
Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.
Al-Mousa H et al.
The Journal of Allergy and Clinical Immunology, 2016
ICF syndrome in Saudi Arabia: immunological, cytogenetic and molecular analysis.
Kaya N et al.
Journal of Clinical Immunology, 2011
The gene mutations and subtelomeric DNA methylation in immunodeficiency, centromeric instability and facial anomalies syndrome.
Hu H et al.
Autoimmunity, 0
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