Mark Nellist
4PUBLICATIONS
7CO-AUTHORS
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Publications (4)
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|Apr 14, 2025
Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal.Hannah D West, Mark Nellist, Rutger W W Brouwer
|Apr 14, 2025
Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome.Hannie Douben, Marianne Hoogeveen-Westerveld, Mark Nellist
|Oct 17, 2022
High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.Hannie C W Douben, Mark Nellist, Leontine van Unen
|Dec 05, 2019
Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.Luiz G Dufner Almeida, Santoesha Nanhoe, Andrea Zonta
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