Abstract 3957: Integrated molecular characterization of mast cell leukemia reveals recurrent inactivation of the SETD2 tumor suppressor geneRead More
The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence DataRead More
Palmoplantar keratoderma and Charcot-Marie-Tooth disease: combination of two independent genetic diseases? Identification of two point mutations in the MPZ and KRT1 genes by whole-exome sequencingRead More
Optimized pipeline of MuTect and GATK tools to improve the detection of somatic single nucleotide polymorphisms in whole-exome sequencing dataRead More
Characterization of a new B-ALL cell line with constitutional defect of the Notch signaling pathwayRead More
Centrosome Linker-induced Tetraploid Segregation Errors Link Rhabdoid Phenotypes and Lethal Colorectal Cancers.Read More