Ivan K. Chinn

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Novel Genomic Technologies: Use and Interpretation

Ivan K. Chinn, 2017 .

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

Deborah I. Ritter, Wigard P. Kloosterman, Stef van Lieshout, 2016, The Journal of clinical investigation.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

Antonis Pantazis, Keith W. Muir, David J. Williams, 2020, Nature.

Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.

Ivan K. Chinn, J. Lupski, R. Gibbs, 2018, Blood.

High Incidence of Autoimmune Disease after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease.

Ivan K. Chinn, J. Orange, R. Krance, 2018, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Genetic errors of immunity distinguish pediatric non-malignant lymphoproliferative disorders.

Ivan K. Chinn, J. Lupski, R. Gibbs, 2021, The Journal of allergy and clinical immunology.

Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature

Ivan K. Chinn, J. Lupski, R. Gibbs, 2021, Frontiers in Pediatrics.

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Ivan K. Chinn, R. Pfundt, B. D. de Vries, 2021, Genetics in Medicine.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.

Lisa T. Emrick, Ivan K. Chinn, J. Rosenfeld, 2018, American journal of human genetics.

Copa Syndrome: a Novel Autosomal Dominant Immune Dysregulatory Disease

Ivan K. Chinn, J. Orange, T. Vece, 2016, Journal of Clinical Immunology.

Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease

Andrew J. Oler, Smita Y. Patel, Ivan K. Chinn, 2019, The Journal of allergy and clinical immunology.

Changes in primary lymphoid organs with aging.

Ivan K. Chinn, N. Manley, I. Chinn, 2012, Seminars in immunology.

Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain‐of‐function mutations

Ivan K. Chinn, Matthew C. Altman, J. Orange, 2017, The Journal of allergy and clinical immunology.

Ruxolitinib partially reverses functional NK cell deficiency in patients with STAT1 gain-of-function mutations

Ivan K. Chinn, Matthew C. Altman, J. Orange, 2017, bioRxiv.

Immunodeficiency Disorders

Ivan K. Chinn, J. Orange, I. Chinn, 2019, Pediatrics in Review.

First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases.

Ivan K. Chinn, A. Fischer, C. Pignata, 2011, Blood.

Factors Affecting Success of Thymus Transplantation for Complete DiGeorge Anomaly

Ivan K. Chinn, Yi-Ju Li, I. Chinn, 2008, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

Thymus Transplantation

Ivan K. Chinn, M. Markert, E. McCarthy, 2008, Thymus Gland Pathology.

Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder.

Joseph T. Glessner, Ivan K. Chinn, J. Glessner, 2016, The Journal of allergy and clinical immunology.

Severe Combined Immunodeficiency Disorders.

Ivan K. Chinn, I. Chinn, W. Shearer, 2015, Immunology and allergy clinics of North America.

Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature

Ivan K. Chinn, J. Orange, L. Forbes, 2019, Front. Pediatr..

Update on the use of immunoglobulin in human disease: A review of evidence

Ivan K. Chinn, J. Orange, E. Hossny, 2017, The Journal of allergy and clinical immunology.

Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia

Ivan K. Chinn, J. Lupski, J. Orange, 2022, JCI insight.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Lisa T. Emrick, Ivan K. Chinn, Denise G. Lanza, 2019, American journal of human genetics.

Hepatobiliary Dysfunction and Disseminated Intravascular Coagulation Increase Risk of Mortality in Pediatric Hemophagocytic Lymphohistiocytosis*

Ivan K. Chinn, T. Nguyen, M. Tcharmtchi, 2018, Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies.

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

Ivan K. Chinn, J. Lupski, R. Gibbs, 2019, The Journal of experimental medicine.

Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency

Ivan K. Chinn, Mark J. Ponsford, L. Forbes, 2018, Journal of Clinical Immunology.

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Ivan K. Chinn, Eric A. Smith, J. Lupski, 2017, The Journal of allergy and clinical immunology.

UNC13D Deficiency

Ivan K. Chinn, I. Chinn, 2019, Definitions.

Diagnostic Interpretation of Genetic Studies in Patients with Primary Immunodeficiency Diseases: A Working Group Report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma, and Immunology.

Ivan K. Chinn, J. Orange, J. Walter, 2019, The Journal of allergy and clinical immunology.

Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development

Ivan K. Chinn, L. Notarangelo, J. Franco, 2023, Journal of Clinical Immunology.