- FOXL2 mutation and large-scale genomic imbalances in adult granulosa cell tumors of the ovaryKatherine B Geiersbach
Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA
Cancer Genet 204:596-602. 2011..This study provides the first correlation of FOXL2 mutation status and genomic imbalances in AGCTs, and it further elucidates the mechanisms for mutant allele imbalance in cancer...
- Unknown partner for USP6 and unusual SS18 rearrangement detected by fluorescence in situ hybridization in a solid aneurysmal bone cystKatherine Geiersbach
ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA
Cancer Genet 204:195-202. 2011..In this case, the SS18 rearrangement by FISH resulted from a complex rearrangement of 18q11.2 with a deletion of the SS18 gene. The translocation partner for USP6 remains unknown in this case...
- Microsatellite instability and colorectal cancerKatherine B Geiersbach
Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT 84108, USA
Arch Pathol Lab Med 135:1269-77. 2011..Identification of individuals with Lynch syndrome allows for increased surveillance of the affected individual and of potentially affected family members...
- Comparison of the Illumina Genome Analyzer and Roche 454 GS FLX for resequencing of hypertrophic cardiomyopathy-associated genesShale Dames
ARUP Laboratories for Clinical and Experimental Pathology, Salt Lake City, Utah 84108, USA
J Biomol Tech 21:73-80. 2010..The results of the current study demonstrate the feasibility of combining LR-PCR with the Genome Analyzer or GS FLX for targeted resequencing of HCM-associated genes...