IVAN CHINN to Phenotype
This is a "connection" page, showing publications IVAN CHINN has written about Phenotype.
Connection Strength
0.415
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Deforming Polyarthritis in a North Indian Family-Clinical Expansion of STING-Associated Vasculopathy with Onset in Infancy (SAVI). J Clin Immunol. 2021 01; 41(1):209-211.
Score: 0.081
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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: 0.081
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A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function. J Exp Med. 2019 12 02; 216(12):2778-2799.
Score: 0.076
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The role of genomic approaches in diagnosis and management of primary immunodeficiency. Curr Opin Pediatr. 2018 12; 30(6):791-797.
Score: 0.071
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Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med. 2021 11; 23(11):2122-2137.
Score: 0.021
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Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency. J Clin Immunol. 2018 10; 38(7):753-756.
Score: 0.018
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Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease. J Allergy Clin Immunol. 2019 04; 143(4):1482-1495.
Score: 0.018
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Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles. Am J Hum Genet. 2018 08 02; 103(2):171-187.
Score: 0.017
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Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet. 2018 06 07; 102(6):1126-1142.
Score: 0.017
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Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder. J Allergy Clin Immunol. 2016 08; 138(2):544-550.e4.
Score: 0.015