Associated Papers
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
Sather CL et al.
Cancer Medicine, 2023
37587851 (PubMed )
Supplement: CAM4-12-17632-s002.xlsx › S5.LowCoverageVariantsExpPanel
Performance comparison: exome sequencing as a single test replacing Sanger sequencing.
Fridman H et al.
Molecular Genetics and Genomics : Mgg, 2021
Plasma DNA as a "liquid biopsy" incompletely complements tumor biopsy for identification of mutations in a case series of four patients with oligometastatic breast cancer.
Chamberlin MD et al.
Breast Cancer Research and Treatment, 2020
Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome.
Papadopoulou A et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece.
Avgeris S et al.
Scientific Reports, 2017
Phenotypic characterization of disseminated cells with TSC2 loss of heterozygosity in patients with lymphangioleiomyomatosis.
Cai X et al.
American Journal of Respiratory and Critical Care Medicine, 2010
Tuberous sclerosis complex and polycystic kidney disease together: an exception to the contiguous gene syndrome.
Woerner AC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.
Feng JH et al.
Human Mutation, 2004
A 34 bp deletion within TSC2 is a rare polymorphism, not a pathogenic mutation.
Roberts PS et al.
Annals of Human Genetics, 2003
SNP identification, haplotype analysis, and parental origin of mutations in TSC2.
Roberts PS et al.
Human Genetics, 2002
The spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis.
Strizheva GD et al.
American Journal of Respiratory and Critical Care Medicine, 2001
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