Mark D. Nellist
Rotterdam, ZH, Netherlands
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 47 publications
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
Enhanced Gαq Signaling in TSC2-Deficient Cells Is Required for Their Neoplastic Behavior.
Journal: American journal of respiratory cell and molecular biology
Published: November 08, 2024
Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variants.
Journal: Gene
Published: April 04, 2023
Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal.
Journal: Human mutation
Published: November 15, 2022
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.
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.
Journal: Human mutation
Published: December 09, 2021
Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity.
Journal: PLoS genetics
Published: February 26, 2021
TSC1 binding to lysosomal PIPs is required for TSC complex translocation and mTORC1 regulation.
Journal: Molecular cell
Published: September 21, 2020
Last Updated: 09/26/2026