Annet Simons
YOU?
Author Swipe
View article: Transcription-based identification of uncharacterized genes in the human immune response
Transcription-based identification of uncharacterized genes in the human immune response Open
Host-pathogen interactions are shaped by the nature of the pathogen and by host-related factors. The human host responses can be characterized in microbe-stimulated immune cells using transcriptomics. We set out to characterize gene expres…
View article: 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 Open
View article: P537: First report of two cases of ReNU (RENU) syndrome from Southeast Asia
P537: First report of two cases of ReNU (RENU) syndrome from Southeast Asia Open
View article: Report of two cases of snRNA gene RNU4-2 related syndromic intellectual disability from Southeast Asia
Report of two cases of snRNA gene RNU4-2 related syndromic intellectual disability from Southeast Asia Open
View article: Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis
Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis Open
View article: 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 Open
The genomics era has facilitated the discovery of new genes that predispose individuals to bone marrow failure (BMF) and hematological malignancy (HM). We report the discovery of ETS-related gene (ERG), a novel, autosomal dominant BMF/HM p…
View article: 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 Open
\n Contains fulltext :\n 307821.pdf (Publisher’s version ) (Open Access)\n
View article: Clinical exome sequencing data from patients with inborn errors of immunity: cohort level meta-analysis and the benefit of systematic reanalysis
Clinical exome sequencing data from patients with inborn errors of immunity: cohort level meta-analysis and the benefit of systematic reanalysis Open
While next generation sequencing has expanded the scientific understanding of Inborn Errors of Immunity (IEI), the clinical use of exome sequencing is still emerging. We performed a cohort level meta-analysis by revisiting clinical exome d…
View article: 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 Open
Targeted exome analysis may offer advantages over single-gene analysis, emphasized by a number of combined deficiencies in this study. Further studies are required to determine the role of co-occurring hemostasis gene variants on the bleed…
View article: 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 Open
View article: 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 Open
Introduction: Rapid exome sequencing (rES) has become the first-choice genetic test for critically ill patients, mostly neonates, young infants, or fetuses in prenatal care, in time-sensitive situations and when it is expected that the gen…
View article: ERG Is a New Predisposition Gene for Bone Marrow Failure and Hematological Malignancy
ERG Is a New Predisposition Gene for Bone Marrow Failure and Hematological Malignancy Open
There remain gaps in our knowledge of hereditary and sporadic causes of hematological malignancy (HM) and bone marrow failure (BMF) that prevent optimal diagnosis, disease surveillance and treatment. Here we report the discovery of ERG as …
View article: Heterozygous OTULIN-variant related fasciitis and skin necrosis treated by TNF inhibition.
Heterozygous OTULIN-variant related fasciitis and skin necrosis treated by TNF inhibition. Open
Here we describe an adult female with severe fasciitis and skin necrosis who carried a private, predicted deleterious missense mutation in OTULIN in heterozygozity. OTULIN is a cellular regulator of deubiquitination that has been shown to …
View article: 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 Open
The heterozygous stop-gain variant in IL37 (IL37 NM_014439.3:c.51G > A p.(Trp17*)) is not of functional relevance as we observed no clear pro-inflammatory phenotype in immune cells of a patient carrying this variant.
View article: 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 Open
Background: De novo variants (DNVs) are currently not routinely evaluated as part of diagnostic whole exome sequencing (WES) analysis in patients with suspected inborn errors of immunity (IEI). Methods: This study explored the potential ad…
View article: Author response: Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study
Author response: Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study Open
Article Figures and data Abstract Editor's evaluation Introduction Materials and methods Results Discussion Data availability References Decision letter Author response Article and author information Metrics Abstract Background: De novo va…
View article: 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 Open
Background D e novo variants (DNVs) are currently not routinely evaluated as part of diagnostic whole exome sequencing (WES) analysis in patients with suspected inborn errors of immunity (IEI). Methods This study explored the potential add…
View article: 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
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 Open
Objective Inborn errors of immunity (IEI) are a heterogeneous group of disorders, affecting different components of the immune system. Over 450 IEI related genes have been identified, with new genes continually being recognized. This makes…
View article: Von Willebrand disease type 2M: Correlation between genotype and phenotype
Von Willebrand disease type 2M: Correlation between genotype and phenotype Open
View article: Genetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19
Genetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19 Open
Introduction Loss-of-function TLR7 variants have been recently reported in a small number of males to underlie strong predisposition to severe COVID-19. We aimed to determine the presence of these rare variants in young men with severe COV…
View article: Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS
Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS Open
View article: Genetic screening for <i>TLR7</i> variants in young and previously healthy men with severe COVID-19: a case series
Genetic screening for <i>TLR7</i> variants in young and previously healthy men with severe COVID-19: a case series Open
Advanced age, male sex and chronic comorbidities are associated with severe COVID-19. However, these general risk factors cannot explain why critical illness occurs in young and apparently healthy individuals. In the past months, several p…
View article: Complement factor D haplodeficiency is associated with a reduced complement activation speed and diminished bacterial killing
Complement factor D haplodeficiency is associated with a reduced complement activation speed and diminished bacterial killing Open
Objectives Complete deficiency of alternative pathway (AP) complement factors, explained by homozygous mutations, is a well‐known risk factor for invasive bacterial infections; however, this is less obvious for heterozygous mutations. We d…
View article: National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies
National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies Open
View article: Presence of Genetic Variants Among Young Men With Severe COVID-19
Presence of Genetic Variants Among Young Men With Severe COVID-19 Open
In this case series of 4 young male patients with severe COVID-19, rare putative loss-of-function variants of X-chromosomal TLR7 were identified that were associated with impaired type I and II IFN responses. These preliminary findings pro…
View article: Platelet CD34 expression in a patient with a partial deletion of transcription factor subunit CBFB
Platelet CD34 expression in a patient with a partial deletion of transcription factor subunit CBFB Open
Contains fulltext : 220459.pdf (Publisher’s version ) (Open Access)
View article: HER2, chromosome 17 polysomy and DNA ploidy status in breast cancer; a translational study
HER2, chromosome 17 polysomy and DNA ploidy status in breast cancer; a translational study Open
View article: Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies Open
View article: Additional file 6: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies
Additional file 6: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies Open
Table S6. Information on all large >â 5-Mb homozygous regions per patient, detected in the exome. Of each region, the genomic location, size, % homozygous variants, and the detected mutation are provided. (XLSX 158 kb)
View article: Additional file 5: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies
Additional file 5: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies Open
Table S5. Quality information of the WES technology, with the mean target coverage, and the % of bases with >â 20Ă coverage. (XLSX 22 kb)