Annet P. Simons

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

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Found 47 publications

Transcription-based identification of uncharacterized genes in the human immune response.

Transcription-based identification of uncharacterized genes in the human immune response.

Journal: European journal of human genetics : EJHG

Published: November 20, 2025

Bleeding symptoms in persons with rare bleeding disorders and a heterozygous genotype: data from the Rare Bleeding Disorders in the Netherlands study.

Bleeding symptoms in persons with rare bleeding disorders and a heterozygous genotype: data from the Rare Bleeding Disorders in the Netherlands study.

Journal: Journal of thrombosis and haemostasis : JTH

Published: September 24, 2024

Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition.

Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition.

Journal: Blood

Published: March 19, 2024

Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study.

Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study.

Journal: Research and practice in thrombosis and haemostasis

Published: January 19, 2024

Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion.

Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion.

Journal: Blood advances

Published: December 04, 2023

OTULIN Haploinsufficiency-Related Fasciitis and Skin Necrosis Treated by TNF Inhibition.

OTULIN Haploinsufficiency-Related Fasciitis and Skin Necrosis Treated by TNF Inhibition.

Journal: Journal of clinical immunology

Published: November 07, 2023

Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.

Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.

Journal: American journal of human genetics

Published: October 05, 2023

Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.

Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.

Journal: Frontiers in genetics

Published: September 29, 2023

Multi-family therapy for adolescents with anorexia nervosa

Multi-family therapy for adolescents with anorexia nervosa

Journal: Tijdschrift voor psychiatrie

Published: September 27, 2023

Assessment of cardiac load-responsiveness in veno-arterial extracorporeal life support: A case series.

Assessment of cardiac load-responsiveness in veno-arterial extracorporeal life support: A case series.

Journal: Perfusion

Published: June 06, 2023

Effect of exogenous IL-37 on immune cells from a patient carrying a potential IL37 loss-of-function variant: A case study.

Effect of exogenous IL-37 on immune cells from a patient carrying a potential IL37 loss-of-function variant: A case study.

Journal: Cytokine

Published: July 01, 2022

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.

Journal: eLife

Published: March 08, 2022

Showing 1-12 of 47

Last Updated: 09/26/2026