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REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.
- N. Ioannidis, J. Rothstein, +38 authors W. Sieh
- Biology, Medicine
- American journal of human genetics
- 6 October 2016
This work developed REVEL (rare exome variant ensemble learner), an ensemble method for predicting the pathogenicity of missense variants on the basis of individual tools: MutPred, FATHMM, VEST, PolyPhen, SIFT, PROVEAN, MutationAssessor, LRT, GERP, SiPhy, phyloP, and phastCons. Expand
Measurement of prostate-specific antigen in serum as a screening test for prostate cancer.
- W. Catalona, Deborah S. Smith, +5 authors G. Andriole
- The New England journal of medicine
- 25 April 1991
The combination of measurement of the serum PSA concentration and rectal examination, with ultrasonography performed in patients with abnormal findings, provides a better method of detecting prostate cancer thanrectal examination alone. Expand
High-throughput oncogene mutation profiling in human cancer
- Roman K. Thomas, Alissa C. Baker, +50 authors L. Garraway
- Biology, Medicine
- Nature Genetics
- 1 March 2007
High-throughput genotyping is adapted to query 238 known oncogene mutations across 1,000 human tumor samples and established robust mutation distributions spanning 17 cancer types, offering a new dimension in tumor genetics, where mutations involving multiple cancer genes may be interrogated simultaneously and in 'real time'. Expand
Comparison of digital rectal examination and serum prostate specific antigen in the early detection of prostate cancer: results of a multicenter clinical trial of 6,630 men.
The use of PSA in conjunction with digital rectal examination enhances early prostate cancer detection and should be considered if either the PSA level is greater than 4 micrograms/l or digital rectAL examination is suspicious for cancer, even in the absence of abnormal transrectal ultrasonography findings. Expand
Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24
A second genetic variant in the 8q24 region that, in conjunction with another variant recently discovered, accounts for about 11%–13% of prostate cancer cases in individuals of European descent and 31% of cases in African Americans is reported. Expand
Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes
Results from eight case-control groups demonstrate that this variant in TCF2 (HNF1β), a gene known to be mutated in individuals with maturity-onset diabetes of the young type 5, confers protection against type 2 diabetes. Expand
Use of the percentage of free prostate-specific antigen to enhance differentiation of prostate cancer from benign prostatic disease: a prospective multicenter clinical trial.
Use of the percentage of free PSA can reduce unnecessary biopsies in patients undergoing evaluation for prostate cancer, with a minimal loss in sensitivity in detecting cancer. Expand
Incidence and treatment of complications of bacillus Calmette-Guerin intravesical therapy in superficial bladder cancer.
Recognition of risk factors, particularly traumatic catheterization or concurrent cystitis, that result in systemic BCG absorption, as well as the prompt and appropriate treatment of early side effects should significantly decrease the incidence of severe toxicity. Expand
A common variant associated with prostate cancer in European and African populations
Allele −8 of the microsatellite DG8S737 was associated with prostate cancer in three case-control series of European ancestry from Iceland, Sweden and the US, and the association was replicated in an African American case- control group with a similar OR, leading to a greater estimated PAR. Expand
Prostate cancer detection in men with serum PSA concentrations of 2.6 to 4.0 ng/mL and benign prostate examination. Enhancement of specificity with free PSA measurements.
Using a percentage of free PSA cutoff of 27% or less as a criterion for performing prostatic biopsy would have detected 90% of cancers, avoided 18% of benign biopsies, and yielded a positive predictive value of 24% in men who underwent biopsy. Expand