The development and implementation of quantitative imaging biomarkers has been
hampered by the inconsistent and often incorrect use of terminology related to these …

Abstract Evaluation of coronary artery disease (CAD) using coronary computed tomography
angiography (CCTA) has seen a paradigm shift in the last decade. Evidence increasingly …

Quantitative biomarkers from medical images are becoming important tools for clinical
diagnosis, staging, monitoring, treatment planning, and development of new therapies …

The Huntington's disease (HD) gene has been mapped in 4p16. 3 but has eluded
identification. We have used haplotype analysis of linkage disequilibrium to spotlight a small …

Using positional cloning strategies, we have identified a CTG triplet repeat that undergoes
expansion in myotonic dystrophy patients. This sequence is highly variable in the normal …

We have isolated a series of genomic and cDNA clones mapping within the boundaries of
constitutional and tumor deletions that define the Wilms' tumor locus on human chromsome …

Abstract Neurofibromatosis 2 (NF2) is a dominantly inherited disorder characterized by the
occurrence of bilateral vestibular schwannomas and other central nervous system tumors …

Holt-Oram syndrome is a developmental disorder affecting the heart and upper limb, the
gene for which was mapped to chromosome 12 two years ago. We have now identified a …

Diastrophic dysplasia (DTD) is a well-characterized autosomal recessive
osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and …

Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle
contractures, that begins in childhood. Symptoms are believed to result from altered …