Jasper J. Saris

Rotterdam, ZH, Netherlands

Last Updated: 09/26/2026

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Found 19 publications

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.

Journal: HGG advances

Published: February 27, 2025

Peritoneal resident macrophages constitute an immunosuppressive environment in peritoneal metastasized colorectal cancer.

Peritoneal resident macrophages constitute an immunosuppressive environment in peritoneal metastasized colorectal cancer.

Journal: Nature communications

Published: April 22, 2024

Disruption of TUFT1, a Desmosome-Associated Protein, Causes Skin Fragility, Woolly Hair, and Palmoplantar Keratoderma.

Disruption of TUFT1, a Desmosome-Associated Protein, Causes Skin Fragility, Woolly Hair, and Palmoplantar Keratoderma.

Journal: The Journal of investigative dermatology

Published: February 14, 2023

Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome.

Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome.

Journal: Human mutation

Published: October 11, 2022

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.

Journal: American journal of human genetics

Published: July 08, 2022

High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.

High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.

Journal: Human mutation

Published: December 09, 2021

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.

Journal: Human mutation

Published: October 26, 2021

Neurovascular abnormalities in patients with Loeys-Dietz syndrome type III.

Neurovascular abnormalities in patients with Loeys-Dietz syndrome type III.

Journal: European journal of medical genetics

Published: September 23, 2021

Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant.

Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant.

Journal: American journal of medical genetics. Part A

Published: February 25, 2021

Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis.

Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis.

Journal: Molecular therapy. Methods & clinical development

Published: November 09, 2019

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.

Journal: Human mutation

Published: February 20, 2019

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.

Journal: European journal of human genetics : EJHG

Published: June 20, 2018

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Last Updated: 09/26/2026