IVAN CHINN to DNA Copy Number Variations
This is a "connection" page, showing publications IVAN CHINN has written about DNA Copy Number Variations.
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0.321
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An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families. Genome Med. 2025 12 31; 18(1):16.
Score: 0.160
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A 2020 update on the use of genetic testing for patients with primary immunodeficiency. Expert Rev Clin Immunol. 2020 09; 16(9):897-909.
Score: 0.111
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Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency. Blood. 2021 01 28; 137(4):493-499.
Score: 0.028
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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245.
Score: 0.021