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European Journal of Human Genetics : EJHG|October 3, 2008
Missense mutations to the TSC1 gene cause tuberous sclerosis complexMark Nellist, Diana van den Heuvel, Diane Schluep, et al.
Human Mutation|December 14, 2011
Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complexMarianne Hoogeveen-Westerveld, Rosemary Ekong, Sue Povey, et al.
HGG Advances|September 29, 2025
Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndromeFederico Ferraro, Nikolas Kühn, Dmitrijs Rots, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|March 18, 2014
Clinical significance of immunohistochemistry for detection of BAP1 mutations in uveal melanomaAnna E Koopmans, Robert M Verdijk, Rutger W W Brouwer, et al.
Human Mutation|April 14, 2025
Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius SyndromeHannie Douben, Marianne Hoogeveen-Westerveld, Mark Nellist, et al.
Genes|November 27, 2024
Molecular and Functional Assessment of TSC1 and TSC2 in Individuals with Tuberous Sclerosis ComplexLuiz Gustavo Dufner-Almeida, Laís F M Cardozo, Mariana R Schwind, et al.
Human Mutation|February 11, 2011
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis ComplexMarianne Hoogeveen-Westerveld, Marjolein Wentink, Diana van den Heuvel, et al.
Annals of Neurology|November 23, 2006
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutationAn C Jansen, Ozgur Sancak, Maria Daniela D'Agostino, et al.
BMC Medical Genetics|May 1, 2015
Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutationsMark Nellist, Rutger W W Brouwer, Christel E M Kockx, et al.
Human Mutation|April 14, 2025
Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was NormalHannah D West, Mark Nellist, Rutger W W Brouwer, et al.
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