Publications by authors named "Annet Simons"

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Bleeding symptoms in persons with rare bleeding disorders and a heterozygous genotype: data from the Rare Bleeding Disorders in the Netherlands study.
Sterre P E Willems, Marjon H Cnossen, Nick van Es, Paul L den Exter, Ilmar C Kruis, Annet Simons

J Thromb Haemost· June 2025

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Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.
Emil E Vorsteveld, Caspar I Van der Made, Sanne P Smeekens, Janneke H Schuurs-Hoeijmakers, Galuh Astuti, Annet Simons

Clin Immunol· November 2024

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Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition.
Jiarna R Zerella, Claire C Homan, Peer Arts, Xuzhu Lin, Sam J Spinelli, Annet Simons

Blood· October 2024

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Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion.
Parvathy Venugopal, Peer Arts, Lucy C Fox, Annet Simons, Devendra K Hiwase

Blood Adv· July 2024

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Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study.
Sterre P E Willems, Annet Simons, Joline L Saes, Marjan Weiss, Sanna Rijpma

Res Pract Thromb Haemost· May 2024

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Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.
Caspar I van der Made, Simone Kersten, Odelia Chorin, Karin R Engelhardt, Gayatri Ramakrishnan, Annet Simons

Am J Hum Genet· April 2024

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Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.
Abderrahim Marouane, Kornelia Neveling, A Chantal Deden, Simone van den Heuvel, Dimitra Zafeiropoulou, Annet Simons

Front Genet· January 2024

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OTULIN Haploinsufficiency-Related Fasciitis and Skin Necrosis Treated by TNF Inhibition.
Rob J W Arts, Tristan J van der Linden, Caspar I van der Made, Marianne M C Hendriks, Wouter A van der Heijden, Annet Simons

J Clin Immunol· December 2023

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Effect of exogenous IL-37 on immune cells from a patient carrying a potential IL37 loss-of-function variant: A case study.
Lisa U Teufel, Caspar I van der Made, Viola Klück, Annet Simons, Alexander Hoischen

Cytokine· February 2023

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Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.
Anne Hebert, Annet Simons, Janneke H M Schuurs-Hoeijmakers, Hans J P M Koenen, Evelien Zonneveld-Huijssoon

Elife· October 2022

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Von Willebrand disease type 2M: Correlation between genotype and phenotype.
Dominique P M S M Maas, Ferdows Atiq, Nicole M A Blijlevens, Paul P T Brons, Sandy Krouwel, Annet Simons

J Thromb Haemost· February 2022

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Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.
Kim Elsink, Manon M H Huibers, Iris H I M Hollink, Annet Simons, Evelien Zonneveld-Huijssoon

Front Immunol· February 2022

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Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS.
Caspar I van der Made, Judith Potjewijd, Annemiek Hoogstins, Huub P J Willems, Arjan J Kwakernaak, Annet Simons

J Allergy Clin Immunol· January 2022

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Genetic Screening for Variants in Young and Previously Healthy Men With Severe COVID-19.
Xavier Solanich, Gardenia Vargas-Parra, Caspar I van der Made, Annet Simons, Janneke Schuurs-Hoeijmakers

Front Immunol· August 2021

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Complement factor D haplodeficiency is associated with a reduced complement activation speed and diminished bacterial killing.
Jeroen D Langereis, Renate G van der Molen, Corrie de Kat Angelino, Stefanie S Henriet, Marien I de Jonge, Annet Simons

Clin Transl Immunology· April 2021

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National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies.
Kim Elsink, Manon M H Huibers, Iris H I M Hollink, Lars T van der Veken, Robert F Ernst, Annet Simons

Eur J Hum Genet· January 2021

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Presence of Genetic Variants Among Young Men With Severe COVID-19.
Caspar I van der Made, Annet Simons, Janneke Schuurs-Hoeijmakers, Guus van den Heuvel, Tuomo Mantere

JAMA· August 2020

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Platelet CD34 expression in a patient with a partial deletion of transcription factor subunit CBFB.
Maaike G J M van Bergen, Joline L Saes, Annet Simons, Konnie M Hebeda, Yvonne M C Henskens

Am J Hematol· June 2020

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HER2, chromosome 17 polysomy and DNA ploidy status in breast cancer; a translational study.
Altuna Halilovic, Dagmar I Verweij, Annet Simons, Marian J P L Stevens-Kroef, Susan Vermeulen

Sci Rep· August 2019

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Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Peer Arts, Annet Simons, Mofareh S AlZahrani, Elanur Yilmaz, Eman AlIdrissi

Genome Med· June 2019

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Whole exome sequencing in the diagnostic workup of patients with a bleeding diathesis.
Joline L Saes, Annet Simons, Sonja A de Munnik, Marten R Nijziel, Nicole M A Blijlevens

Haemophilia· January 2019

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The phenotypic spectrum of germline variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2.
Lisa G Riley, Matthew M Heeney, Joëlle Rudinger-Thirion, Magali Frugier, Dean R Campagna, Annet Simons

Haematologica· December 2018

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Cytogenetic Nomenclature and Reporting.
Marian Stevens-Kroef, Annet Simons, Katrina Rack, Rosalind J Hastings

Methods Mol Biol· January 2018

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Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Rolph Pfundt, Marisol Del Rosario, Lisenka E L M Vissers, Michael P Kwint, Irene M Janssen, Annet Simons

Genet Med· June 2017

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Platelet CD34 expression and α/δ-granule abnormalities in - and -related familial bleeding disorders.
Anna E Marneth, Waander L van Heerde, Konnie M Hebeda, Britta A P Laros-van Gorkom, Wideke Barteling, Annet Simons

Blood· March 2017

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