Co-Authors
This is a "connection" page, showing publications co-authored by JAMES LUPSKI and IVAN CHINN.
Connection Strength
2.332
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Case Report: p40 phox deficiency underlying pediatric-onset systemic lupus erythematosus. Front Pediatr. 2024; 12:1425874.
Score: 0.221
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Short stature and combined immunodeficiency associated with mutations in RGS10. Sci Signal. 2021 07 27; 14(693).
Score: 0.179
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Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis. Blood. 2018 07 05; 132(1):89-100.
Score: 0.142
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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: 0.140
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Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168. Front Immunol. 2017; 8:576.
Score: 0.134
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PTPN1-related autoinflammation is a common cause of Aicardi-Gouti?res Syndrome with reduced penetrance. medRxiv. 2026 Apr 01.
Score: 0.062
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Autosomal dominant CDC45 deficiency with allelic expression bias causes a novel genetic disease of the immune system. bioRxiv. 2026 Mar 06.
Score: 0.061
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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: 0.061
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Clinical, immunologic, and genetic characteristics of 148 patients with natural killer cell deficiency. J Allergy Clin Immunol. 2025 May; 155(5):1623-1634.
Score: 0.057
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The Golgi complex governs natural killer cell lytic granule positioning to promote directionality in cytotoxicity. Cell Rep. 2025 01 28; 44(1):115156.
Score: 0.057
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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders. Am J Hum Genet. 2025 02 06; 112(2):394-413.
Score: 0.057
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Monoallelic expression can govern penetrance of inborn errors of immunity. Nature. 2025 01; 637(8048):1186-1197.
Score: 0.057
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VizCNV: An integrated platform for concurrent phased BAF and CNV analysis with trio genome sequencing data. bioRxiv. 2024 Oct 29.
Score: 0.056
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Correction: Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis. J Exp Med. 2024 Jun 03; 221(6).
Score: 0.054
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Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis. J Exp Med. 2024 Jun 03; 221(6).
Score: 0.054
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?-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination. J Immunol. 2024 Mar 15; 212(6):962-973.
Score: 0.054
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Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency. J Allergy Clin Immunol. 2024 01; 153(1):216-229.
Score: 0.052
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An ELF4 hypomorphic variant results in NK cell deficiency. JCI Insight. 2022 12 08; 7(23).
Score: 0.049
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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: 0.049
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Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med. 2021 11; 23(11):2122-2137.
Score: 0.045
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Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders. J Allergy Clin Immunol. 2022 02; 149(2):758-766.
Score: 0.045
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Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature. Front Pediatr. 2021; 9:673957.
Score: 0.044
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Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients. J Exp Med. 2021 07 05; 218(7).
Score: 0.044
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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: 0.043
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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: 0.042
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Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID. J Clin Invest. 2020 08 03; 130(8):4411-4422.
Score: 0.042
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HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease. Science. 2020 07 10; 369(6500):202-207.
Score: 0.042
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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: 0.039
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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: 0.039
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Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome. Front Pediatr. 2019; 7:303.
Score: 0.039
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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: 0.038
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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: 0.036
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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: 0.036
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Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING. Cell Rep. 2018 04 24; 23(4):1112-1123.
Score: 0.036
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First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis. Front Pediatr. 2017; 5:17.
Score: 0.033
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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: 0.032
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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245.
Score: 0.032
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Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing. J Allergy Clin Immunol. 2016 10; 138(4):1142-1151.e2.
Score: 0.032