Affiliation: Centers for Disease Control and Prevention
- Development of genomic reference materials for Huntington disease genetic testingLisa Kalman
Laboratory Practice Evaluation and Genomics Branch, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA
Genet Med 9:719-23. 2007....
- Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descentLisa Kalman
Laboratory Practice Evaluation and Genomics Branch, National Center for Preparedness, Detection and Control of Infectious Diseases, Centers for Disease Control and Prevention, 1600 Clifton Road, Mailstop G23, Atlanta, GA 30333, USA
J Mol Diagn 11:530-6. 2009..These characterized materials are publicly available from Coriell and may be used for quality control, proficiency testing, test development, and research...
- Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panelLisa Kalman
Division of Laboratory Science and Standards, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA
J Mol Diagn 13:167-74. 2011....
- Evaluation of the validity and utility of genetic testing for rare diseasesScott D Grosse
Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA
Adv Exp Med Biol 686:115-31. 2010..Specific rare disorders addressed include cystic fibrosis, fragile X syndrome, Duchenne and Becker muscular dystrophy, spinal muscular atrophy, Huntington disease, as well as cancer associated with BRCA mutations...
- Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE reviewLisa Kalman
Centers for Disease Control and Prevention, Newborn Screening Quality Assurance Program, Office of Genomics and Disease Prevention, Atlanta, Georgia, USA
Genet Med 6:16-26. 2004..Validated tests and pilot population studies are necessary to determine newborn screening's potential for identifying infants with SCID...