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In clinical exome and genome sequencing, there is a potential for the recognition and reporting of incidental or secondary findings unrelated to the indication for ordering the sequencing but of medical value for patient care. The American College of Medical Genetics and Genomics (ACMG) recently published a policy statement on clinical sequencing that(More)
CHARGE association is a nonrandom pattern of congenital anomalies that occurs together more frequently than one would expect on the basis of chance. This common multiple anomaly condition has an estimated prevalence of 1:10,000. The number of children diagnosed with CHARGE association is increasing, owing presumably to greater awareness of this condition(More)
PURPOSE To compare colonoscopy screening/surveillance rates by level of risk for colorectal cancer based on age, personal history of adenomatous polyps or colorectal cancer, or family history of colorectal cancer. METHODS Participants were aged 30-90 years, were seen within 5 years at Intermountain Healthcare, and had family history in the Utah Population(More)
BACKGROUND & AIMS Colorectal cancer (CRC) risk estimates based on family history typically include only close relatives. We report familial relative risk (FRR) in probands with various combinations, or constellations, of affected relatives, extending to third-degree. METHODS A population-based resource that includes a computerized genealogy linked to(More)
We have identified six children in three families with subtelomeric deletions of 6p25 and a recognizable phenotype consisting of ptosis, posterior embryotoxon, optic nerve abnormalities, mild glaucoma, Dandy-Walker malformation, hydrocephalus, atrial septal defect, patent ductus arteriosus, and mild mental retardation. There is considerable clinical overlap(More)
Epizootiologic studies conducted during the past few years showed the existence of widespread natural infection of the southern flying squirrel, Glaucomys volans, with epidemic typhus rickettsiae, Rickettsia prowazekii. The ecological findings strongly implicated transmission of the etiologic agent by an arthropod vector. Studies were conducted under(More)
Vector transmission of Rickettsia prowazekii among wild flying squirrels, Glaucomys volans, was suggested by the occurrence of natural infection of squirrel lice and fleas. Lice, mostly Neohaematopinus sciuropteri Osburn, were found infected in the fall in each of 2 consecutive years; 4 of the 8 pools of this insect tested were infected. Fleas, Orchopeas(More)
BACKGROUND Colonoscopy is one of the most effective methods of cancer prevention and detection, particularly for individuals with familial risk. Recruitment of family members to behavioral intervention trials remains uniquely challenging, owing to the intensive process required to identify and contact them. Recruiting at-risk family members involves(More)