Associated Papers
Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.
Brown JR et al.
Blood, 2026
41055698 (PubMed )
Supplement: BLOOD_BLD-2024-027009-mmc6.xlsx › Sheet_1
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
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
Comprehensive characterization of 536 patient-derived xenograft models prioritizes candidatesfor targeted treatment.
Sun H et al.
Nature Communications, 2021
34429404 (PubMed )
Supplement: 41467_2021_25177_MOESM8_ESM.xlsx › Sheet1
Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.
Durham BH et al.
Nature Medicine, 2019
31768065 (PubMed )
Supplement: NIHMS1541330-supplement-1.pdf
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
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.
Bahl S et al.
Molecular Autism, 2013
23514105 (PubMed )
Supplement: 2040-2392-4-5-S5.xls › Sheet1
A reliable cell-based assay for testing unclassified TSC2 gene variants.
Coevoets R et al.
European Journal of Human Genetics : Ejhg, 2009
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