Associated Papers
An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.
Szafron LA et al.
International Journal of Molecular Sciences, 2024
39456660 (PubMed )
Supplement: ijms-25-10876-s001.zip › Supplement-variants.xlsx › Hot.spot.panel.SNP_all_variants
Multimodal framework to resolve variants of uncertain significance in TSC2.
Biar CG et al.
Biorxiv : the Preprint Server for Biology, 2024
38895336 (PubMed )
Supplement: media-2.xlsx › Table_S2
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_15
Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variants.
Farach LS et al.
Gene, 2023
Oncomine™ Comprehensive Assay v3 vs. Oncomine™ Comprehensive Assay Plus.
Vestergaard LK et al.
Cancers, 2021
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.
Wagener R et al.
European Journal of Human Genetics : Ejhg, 2021
33840814 (PubMed )
Supplement: 41431_2021_878_MOESM2_ESM.xlsx › Table_S3
Architecture of the Tuberous Sclerosis Protein Complex.
Ramlaul K et al.
Journal of Molecular Biology, 2021
33307091 (PubMed )
Supplement: mmc1.pdf
Biallelic loss-of-function variants in RBL2 in siblings with a neurodevelopmental disorder.
Brunet T et al.
Annals of Clinical and Translational Neurology, 2020
32105419 (PubMed )
Supplement: ACN3-7-390-s001.docx
Autism Spectrum Disorder and miRNA: An Overview of Experimental Models.
Schepici G et al.
Brain Sciences, 2019
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30787465 (PubMed )
Supplement: NIHMS1525468-supplement-Large_Excel_File.xlsx › Table_S6
MUG-Mel2, a novel highly pigmented and well characterized NRAS mutated human melanoma cell line.
Rinner B et al.
Scientific Reports, 2017
28522871 (PubMed )
Supplement: 41598_2017_2197_MOESM1_ESM.pdf
Targeted genomic analysis of Müllerian adenosarcoma.
Howitt BE et al.
The Journal of Pathology, 2015
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.
Bahl S et al.
Molecular Autism, 2013
Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.
Feng JH et al.
Human Mutation, 2004
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