Mark Nellist

Erasmus MC — Netherlands

Medicine · Health Sciences

42h-index10.2kcitations109works1.22yr avg
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Research Topics

Tuberous Sclerosis Complex Research(76), Histiocytic Disorders and Treatments(27), Polyomavirus and related diseases(25), PI3K/AKT/mTOR signaling in cancer(13), Tumors and Oncological Cases(11)

Publications109 total

Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome
Human Genetics and Genomics Advances·2025Open Access
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools
Human Genetics and Genomics Advances·2025· 1 citedOpen Access
Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in <i>TCOF1</i> causing Treacher Collins syndrome
2025Open Access
Enhanced Gαq Signaling in <i>TSC2</i> -Deficient Cells Is Required for Their Neoplastic Behavior
American Journal of Respiratory Cell and Molecular Biology·2024· 2 cited
Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis Complex
Genes·2024· 3 citedOpen Access
Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal
Human Mutation·2023· 6 citedOpen Access
Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variants
Gene·2023· 7 cited
Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome
Human Mutation·2023· 3 citedOpen Access
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders
The American Journal of Human Genetics·2023· 53 citedOpen Access
P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals with tuberous sclerosis and is associated with a distinctive phenotypic severity
Genetics in Medicine Open·2023Open Access
High‐yield identification of pathogenic <i>NF1</i> variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing
Human Mutation·2022· 16 citedOpen Access
RNA-sequencing improves diagnosis for neurodevelopmental disorders by identifying pathogenic non-coding variants and reinterpretation of coding variants
2022· 3 citedOpen Access
Functional assays combined with pre-mRNA splicing analysis improve variant classification and diagnostics for individuals with Neurofibromatosis type 1 and Legius syndrome.
2022· 1 citedOpen Access
eP120: Predicted frameshift variant in TSC2 associated with mild TSC phenotype and non-penetrance
Genetics in Medicine·2022
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations
Pediatric Neurology·2021· 649 citedOpen Access
Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity
PLoS Genetics·2021· 20 citedOpen Access
RHEB/mTOR hyperactivity causes cortical malformations and epileptic seizures through increased axonal connectivity
PLoS Biology·2021· 51 citedOpen Access
TSC1 binding to lysosomal PIPs is required for TSC complex translocation and mTORC1 regulation
Molecular Cell·2021· 53 citedOpen Access
Functional and structural analyses of novel Smith-Kingsmore syndrome-associated MTOR-variants reveal potential new mechanisms and predictors of pathogenicity
Molecular Genetics and Metabolism·2021
G3BPs tether the TSC complex to lysosomes and suppress mTORC1 signaling
Cell·2021· 143 citedOpen Access
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Frequent Co-authors

Dicky Halley(19), Marianne Hoogeveen‐Westerveld(14), Julian R. Sampson(12), Ans van den Ouweland(11), David J. Kwiatkowski(9), Hope Northrup(9), Darcy A. Krueger(9), Peter B. Crino(9), Floor E. Jansen(9), Elizabeth A. Thiele(8), Eleonora Aronica(8), Ans M.W. van den Ouweland(8), Rosemary Ekong(6), Sue Povey(6), Sergiusz Jóźwiak(6), Steven Sparagana(6), Miriam Goedbloed(6), Anneke Maat‐Kievit(6), Wim G.M. Spliet(6), Elizabeth P. Henske(5)