McKusick-Nathans Institute / Buford Highway / National Library of Medicine / Johns Hopkins University / /
IndustryTerm
clinical and public health applications / carrier testing / car rier testing / population-based carrier screening / carrier screening / Web-accessible database / population-based carrier testing / genetic technology / /
MedicalCondition
Glaucoma / Hereditary hemochromatosis / rare diseases / individually inherited disorders / colorectal cancer / Alzheimer disease MTHFR / birth prevalence Azoospermia / United States Coronary artery disease / inherited diseases / familial adenomatous polyposis / common complex diseases / ACADS AR Rare Galactokinase deficiency GALK1 AR Galactosemia GALE / Huntington disease / X syndrome / selected diseases / deafness / few diseases / phenylketonuria / obstructive azoospermia Coronary artery disease risk factor / cystic fibrosis / MS / hearing loss / symptomatic venous thrombosis / breast cancer / common diseases / heritable disorder / asthma / infertility / cancers / PCCB AR Rare Short chain acyl-coA dehydrogenase deficiency / PKD3 AD Preeclampsia AGT / cancer / nonobstructive oligospermia / schizophrenia / total disease / disease / long chain acyl-coA ACADVL dehydrogenase deficiency / rare disease / Polycystic kidney disease / years Prostate cancer HPC1 / just hereditary breast cancer / hereditary breast / genetic diseases / hereditary hearing loss / Niemann-Pick disease / Hereditary nonpolyposis colon cancer MLH1 / cardiovascular disease / Bloom syndrome / worldwide Oculocutaneous albinism TYR / Diabetes mellitus / hyper409 Yoon et al. lipidemia / hereditary nonpolyposis colorectal cancer / diseases / dehydrogenase deficiency / dehydrogenase deficiency G6PD / PKU / hereditary breast cancer / rare / single-gene disorders / late-onset familial Alzheimer disease / acid oxidation disorder / Familial hyperparathyroidism HRPT2 / Late-onset familial Alzheimer disease AD5 / significant memory loss / Maple syrup urine disease / population Diabetes mellitus / hemochromatosis / Down syndrome / /
MedicalTreatment
oral contraceptives / counseling / /
Organization
office of Rare Diseases / McKusick-Nathans Institute for Genetic Medicine / National Organization of Rare Diseases.13 They / Johns Hopkins University / office of Genetics and Disease Prevention / National Center for Environmental Health / Washington School of Medicine / Centers for Disease Control and Prevention / National Center for Biotechnology Information / National Organization of Rare Diseases / Public Health Practice Program Office / GeneTests / Department of Health / Advisory Committee / office of Rare Diseases / 12 / /
Person
Paula W. Yoon / Muin J. Khoury / Ira M. Lubin / Mindy Clyne / Andrew Faucett / Wylie Burke / Chen / Marta Gwinn / Roberta Pagon / /
Position
Medical Director / Secretary / basic and simple model for test assessment / /
Public health impact of genetic tests at the end of the 20th century