IVAN CHINN to Mutation
This is a "connection" page, showing publications IVAN CHINN has written about Mutation.
Connection Strength
0.727
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Mutations in PI3K110d cause impaired natural killer cell function partially rescued by rapamycin treatment. J Allergy Clin Immunol. 2018 08; 142(2):605-617.e7.
Score: 0.212
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Short stature and combined immunodeficiency associated with mutations in RGS10. Sci Signal. 2021 07 27; 14(693).
Score: 0.068
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Human NK cell deficiency as a result of biallelic mutations in MCM10. J Clin Invest. 2020 10 01; 130(10):5272-5286.
Score: 0.064
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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: 0.055
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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: 0.054
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Biallelic mutations in IRF8 impair human NK cell maturation and function. J Clin Invest. 2017 01 03; 127(1):306-320.
Score: 0.049
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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: 0.047
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Reactive lymphoid hyperplasia in association with 22q11.2 deletion syndrome and a BRCA2 mutation. Eur J Med Genet. 2011 Jan-Feb; 54(1):63-6.
Score: 0.032
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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders. Am J Hum Genet. 2025 Feb 06; 112(2):394-413.
Score: 0.022
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Monoallelic expression can govern penetrance of inborn errors of immunity. Nature. 2025 Jan; 637(8048):1186-1197.
Score: 0.021
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Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia. JCI Insight. 2022 11 08; 7(21).
Score: 0.019
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Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients. J Exp Med. 2021 07 05; 218(7).
Score: 0.017
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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: 0.015
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Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation. J Allergy Clin Immunol Pract. 2020 03; 8(3):1103-1106.e3.
Score: 0.015
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A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency. J Allergy Clin Immunol. 2019 06; 143(6):2296-2299.
Score: 0.014
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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: 0.014
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Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development. J Allergy Clin Immunol. 2014 Apr; 133(4):1109-15.
Score: 0.010