Publications by authors named "Sigrid Swagemakers"

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Increasing inflammatory biomarkers are associated with mortality in critically ill COVID-19 patients despite anti-inflammatory treatment.
Katrijn Daenen, Dimitris Rizopoulos, Virgil A S H Dalm, Jilske A Huijben, Sara C M Stoof, Sigrid M A Swagemakers

Clin Exp Med· November 2025

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Serum Biomarkers Linked to Disease Activity, Severity, and Methylprednisolone Response in Graves' Orbitopathy: A Proteomic Study.
Gijsbert J Hötte, P Martijn Kolijn, Maaike de Bie, Sigrid M A Swagemakers, Peter J van der Spek

Invest Ophthalmol Vis Sci· November 2025

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Diagnostic Biomarkers for Uveitis: Serum BAFF and CXCL9 in Differentiating Ocular Sarcoidosis, Tuberculosis and Other Entities with Implication for QuantiFERON-Positive Uveitis.
Ikhwanuliman Putera, Rina La Distia Nora, Josianne C E M Ten Berge, Nicole M A Nagtzaam, Sigrid M A Swagemakers

Ocul Immunol Inflamm· October 2025

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Ultrarare Variants in DNA Damage Repair Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome or Acute Behavioral Regression in Neurodevelopmental Disorders.
Janet L Cunningham, Jennifer Frankovich, Robert A Dubin, Erika Pedrosa, Refia Nur Baykara, Sigrid M A Swagemakers

Dev Neurosci· September 2025

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Gain-of-Function Variant in and Retinal Macular Edema: Insights into the IL-6 R/JAK/ Pathway in Retinal Pigment Epithelium.
Zijun Zhou, Mirthe S Lourens, Kornvalee Meesilpavikkai, Tom Missotten, Mirjam van Velthoven, Sigrid M A Swagemakers

Ocul Immunol Inflamm· September 2025

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Ultrarare Variants in DNA Damage Repair and Mitochondrial Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome and Acute Behavioral Regression in Neurodevelopmental Disorders.
Dhanya Vettiatil, Anjana Soorajkumar, Robert A Dubin, Erika Pedrosa, Allan Schornagel, Sigrid M A Swagemakers

medRxiv· August 2025

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Mycobacterium tuberculosis Infection of Retinal Endothelial Cells Induces Interferon Signaling Activation: Insights Into Tubercular Retinal Vasculitis.
Ikhwanuliman Putera, Sigrid M A Swagemakers, Nicole M A Nagtzaam, Conny van Holten-Neelen, Rina La Distia Nora

Invest Ophthalmol Vis Sci· July 2025

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Novel Y360C Gain-of-function Variant Underlies Immune Dysregulation and Aberrancy in Mitochondrial Dynamics.
Kornvalee Meesilpavikkai, Kasiphak Kaikaew, Zijun Zhou, Virgil A S H Dalm, Fabian M P Kaiser, Sigrid M A Swagemakers

Immune Netw· April 2025

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A patient-based murine model recapitulates human STAT3 gain-of-function syndrome.
Kornvalee Meesilpavikkai, Zijun Zhou, Kasiphak Kaikaew, Suphattra Phakham, Peter J van der Spek, Sigrid Swagemakers

Clin Immunol· September 2024

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A serum B-lymphocyte activation signature is a key distinguishing feature of the immune response in sarcoidosis compared to tuberculosis.
Ikhwanuliman Putera, Benjamin Schrijver, P Martijn Kolijn, Astrid C van Stigt, Josianne C E M Ten Berge, Sigrid M A Swagemakers

Commun Biol· September 2024

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Plasticity mechanisms of genetically distinct Purkinje cells.
Stijn Voerman, Robin Broersen, Sigrid M A Swagemakers, Chris I De Zeeuw, Peter J van der Spek

Bioessays· June 2024

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Bioinformatic meta-analysis reveals novel differentially expressed genes and pathways in sarcoidosis.
Rogier T A van Wijck, Hari S Sharma, Sigrid M A Swagemakers, Willem A Dik, Hanna IJspeert

Front Med (Lausanne)· June 2024

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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Elke de Boer, Charlotte W Ockeloen, Rosalie A Kampen, Juliet E Hampstead, Alexander J M Dingemans, Sigrid M A Swagemakers

Genet Med· November 2023

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Whole exome sequencing of patients with varicella-zoster virus and herpes simplex virus induced acute retinal necrosis reveals rare disease-associated genetic variants.
Johanna L Heinz, Sigrid M A Swagemakers, Joanna von Hofsten, Marie Helleberg, Michelle M Thomsen

Front Mol Neurosci· October 2023

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Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Rebecca S Tooze, Kerry A Miller, Sigrid M A Swagemakers, Eduardo Calpena, Simon J McGowan

Genet Med· September 2023

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A germline STAT6 gain-of-function variant is associated with early-onset allergies.
Narissara Suratannon, Chupong Ittiwut, Willem A Dik, Rungnapa Ittiwut, Kornvalee Meesilpavikkai, Sigrid M A Swagemakers

J Allergy Clin Immunol· February 2023

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A CDC42 Stop-loss Mutation in a Patient with Relapsing Polychondritis and Autoinflammation.
Rogier T A van Wijck, Sigrid M A Swagemakers, Peter J van der Spek, P Martin van Hagen, Paul L A van Daele

J Clin Immunol· January 2023

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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Elke de Boer, Charlotte W Ockeloen, Rosalie A Kampen, Juliet E Hampstead, Alexander J M Dingemans, Sigrid M A Swagemakers

Genet Med· October 2022

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Altered leukocyte subsets and immune proteome indicate proinflammatory mechanisms in mastocytosis.
Maud A W Hermans, Jorn J Heeringa, Sigrid G A Swagemakers, Benjamin Schrijver, Paul L A van Daele

J Allergy Clin Immunol· July 2022

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Vitreous proteomics, a gateway to improved understanding and stratification of diverse uveitis aetiologies.
Benjamin Schrijver, P Martijn Kolijn, Josianne C E M Ten Berge, Nicole M A Nagtzaam, Angelique L C T van Rijswijk, Sigrid M A Swagemakers

Acta Ophthalmol· June 2022

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Identification of ultra-rare genetic variants in pediatric acute onset neuropsychiatric syndrome (PANS) by exome and whole genome sequencing.
Rosario Trifiletti, Herbert M Lachman, Olivia Manusama, Deyou Zheng, Alberto Spalice, Sigrid Swagemakers

Sci Rep· June 2022

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CRISPRs in the human genome are differentially expressed between malignant and normal adjacent to tumor tissue.
Job van Riet, Chinmoy Saha, Nikolaos Strepis, Rutger W W Brouwer, Elena S Martens-Uzunova, Sigrid M A Swagemakers

Commun Biol· April 2022

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Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis.
William B Barrell, Hadeel Adel Al-Lami, Jacqueline A C Goos, Sigrid M A Swagemakers, Marieke van Dooren

Eur J Hum Genet· March 2022

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CD40LG mutations in Vietnamese patients with X-linked hyper-IgM syndrome; catastrophic anti-phospholipid syndrome as a new complication.
Anh Nguyen Lien Phan, Thuy Thi Thanh Pham, Xinh Thi Phan, Nghia Huynh, Tuan Minh Nguyen, Sigrid Swagemakers

Mol Genet Genomic Med· August 2021

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Exploring Differentially Methylated Genes in Vulvar Squamous Cell Carcinoma.
Shatavisha Dasgupta, Patricia C Ewing-Graham, Sigrid M A Swagemakers, Thierry P P van den Bosch, Peggy N Atmodimedjo

Cancers (Basel)· July 2021

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