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Author Details

Marielle E van Gijn
University Medical Center Groningen
1999
78
29
PMIDPaper TitleJournal TitlePublished Year
37953324The Human Phenotype Ontology in 2024: phenotypes around the world.Nucleic Acids Res2024
37277582Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort.J Clin Immunol2023
37781402Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching.Front Immunol2023
37212859Dysregulation of miRNA-30e-3p targeting IL-1β in an international cohort of systemic autoinflammatory disease patients.J Mol Med (Berl)2023
34048852Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS.J Allergy Clin Immunol2022
35577938Recommendations for whole genome sequencing in diagnostics for rare diseases.Eur J Hum Genet2022
35418585FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research.Sci Data2022
35255501Enhanced hepatic clearance of hyposialylated platelets explains thrombocytopenia in GNE-related macrothrombocytopenia.Blood Adv2022
35238435Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma.J Eur Acad Dermatol Venereol2022
33991581Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.J Allergy Clin Immunol2022
32534952Collodion babies: A 15-year retrospective multicenter study in The Netherlands-Evaluation of severity scores to predict the underlying disease.J Am Acad Dermatol2021
33779897A Minimal Parameter Set Facilitating Early Decision-making in the Diagnosis of Hemophagocytic Lymphohistiocytosis.J Clin Immunol2021
33861020Diagnostisches Next Generation Sequencing bei neonataler Erythrodermie.J Dtsch Dermatol Ges2021
34345025Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.Genet Med2021
34012022Feasibility of predicting allele specific expression from DNA sequencing using machine learning.Sci Rep2021
33103336Diagnostic next generation sequencing in neonatal erythroderma.J Dtsch Dermatol Ges2021
33070266Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands.J Clin Immunol2021
32733070National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies.Eur J Hum Genet2021
31410474Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers.Rheumatology (Oxford)2020
32035178Cost and impact of early diagnosis in primary immunodeficiency disease: A literature review.Clin Immunol2020
32831124CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations.Genome Med2020
32176780ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.Clin Chem2020
31325311Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers.Rheumatology (Oxford)2020
31018962Classification criteria for autoinflammatory recurrent fevers.Ann Rheum Dis2019
31856934Phenotypic variability including Behçet's disease-like manifestations in DADA2 patients due to a homozygous c.973-2A>G splice site mutation.Clin Exp Rheumatol2019
31186541Current practices for the genetic diagnosis of autoinflammatory diseases: results of a European Molecular Genetics Quality Network Survey.Eur J Hum Genet2019
31433103Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.Hum Mutat2019
31278138Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases.Ann Rheum Dis2019
31250335Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review.J Clin Immunol2019
29150835The expanding spectrum of clinical phenotypes associated with PSTPIP1 mutations: from PAPA to PAMI syndrome and beyond.Br J Dermatol2018
30193839A novel LPS-responsive beige-like anchor protein (LRBA) mutation presents with normal cytotoxic T lymphocyte-associated protein 4 (CTLA-4) and overactive T<sub>H</sub>17 immunity.J Allergy Clin Immunol2018
30425284Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation.Sci Rep2018
29439187Lethal neonatal bone marrow failure syndrome with multiple congenital abnormalities, including limb defects, due to a constitutional deletion of 3' <i>MECOM</i>.Haematologica2018
29599418New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).J Med Genet2018
29432774Proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1) controls immune synapse stability in human T cells.J Allergy Clin Immunol2018
27203668Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype.Br J Dermatol2017
28414192Congenital erythroderma should be considered as an urgent warning sign of immunodeficiency: a case of Omenn syndrome.Eur J Dermatol2017
26867732Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.Rheumatology (Oxford)2016
26409462Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD).JIMD Rep2016
27405666X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene.J Allergy Clin Immunol2016
26992230Reduced serpinB9-mediated caspase-1 inhibition can contribute to autoinflammatory disease.Oncotarget2016
24995649Recurrent pyoderma gangrenosum and cystic acne associated with leucocyte adhesion deficiency due to novel mutations in ITGB2: successful treatment with infliximab and adalimumab.Acta Derm Venereol2015
26343524A novel human STAT3 mutation presents with autoimmunity involving Th17 hyperactivation.Oncotarget2015
25926555Dysfunctional BLK in common variable immunodeficiency perturbs B-cell proliferation and ability to elicit antigen-specific CD4+ T-cell help.Oncotarget2015
25239704Myeloid lineage-restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome.J Allergy Clin Immunol2015
23505238MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease.Ann Rheum Dis2014
25242138A novel FcγRIIa Q27W gene variant is associated with common variable immune deficiency through defective FcγRIIa downstream signaling.Clin Immunol2014
24356959Defects in mitochondrial clearance predispose human monocytes to interleukin-1β hypersecretion.J Biol Chem2014
24139496Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.J Allergy Clin Immunol2014
23192360Acceptance of genetic counseling and testing in a hospital-based series of patients with gynecological cancer.J Genet Couns2013
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Collaborators

Hans Clevers
Princess Maxima Center for Pediatric Oncology
Co-authored papers 6
Morris A Swertz
University of Groningen, University Medical Center Groningen
Co-authored papers 6
Kimberly Gilmour
NIHR Great Ormond Street Hospital BRC
Co-authored papers 2
Peter N Robinson
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 2
Christian Gilissen
Radboud University Medical Center
Co-authored papers 2
Catharina Schuetz
University Hospital Carl Gustav Carus, Technische Universitat Dresden
Co-authored papers 2
Edwin Cuppen
Hartwig Medical Foundation
Co-authored papers 2
Reem Elfeky
GOS Hospital for Children NHS Foundation Trust, University College London
Co-authored papers 2
Maaike A Kusters
NIHR Great Ormond Street Hospital BRC
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Jeroen F J Laros
National Institute for Public Health and the Environment
Co-authored papers 2
Osamu Ohara
Co-authored papers 2
Dirk Foell
Co-authored papers 2
Marc van de Wetering
Princess Maxima Center for Pediatric Oncology
Co-authored papers 2
Julia Pazmandi
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases
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Francisco Castellanos
Instituto Politecnico Nacional
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Lambertus A Kiemeney
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Marc Vooijs
Maastricht University Medical Centre+
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Joel Anderton
Center for Craniofacial and Dental Genetics, University of Pittsburgh
Co-authored papers 1
Pablo Botas
Co-authored papers 1
Ferdinand Dhombres
Armand Trousseau Hospital, Sorbonne University
Co-authored papers 1
Bruno Donadille
Co-authored papers 1
Ana Rath
INSERM
Co-authored papers 1
Alexander J M Dingemans
Donders Institute for Brain, Radboud University Medical Center
Co-authored papers 1
No??mi Dahan-Oliel
McGill University, Canada Shriners Hospital for Children-Canada
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Jon R Davids
Co-authored papers 1
Matthias Griese
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Melissa A Haendel
American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison
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Release 1.2