Concepedia

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

Michael S. Watson, Garry R. Cutting, Robert J. Desnick, Deborah A. Driscoll, K. Klinger, Michael T. Mennuti, Glenn E. Palomaki, Bradley W. Popovich, Victoria M. Pratt, Elizabeth M. Rohlfs,

Genetics in Medicine · 2004 · 479 citations · 8 references

DOIFull text

Open access

Concepts

References

8

Laboratory standards and guidelines for population-based cystic fibrosis carrier screening

Wayne W. Grody, Garry R. Cutting, K. Klinger et al. · Genetics in Medicine · 2001 · 460 citations

, , +13

Standards and Guidelines for CFTR Mutation Testing

Carolyn Sue Richards, Linda Bradley, Jean Amos et al. · Genetics in Medicine · 2002 · 130 citations · Full text

, , +11

Genetic Testing for Cystic Fibrosis

National Institutes of Health Consensus Development Conference Statement on Genetic Testing for Cystic Fibrosis · Archives of Internal Medicine · 1999 · 126 citations

, , +14

Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population

Glenn E. Palomaki, Stacey C. FitzSimmons, James E. Haddow · Genetics in Medicine · 2004 · 113 citations · Full text

, , +16

The I148T CFTR allele occurs on multiple haplotypes: A complex allele is associated with cystic fibrosis

Elizabeth M. Rohlfs, Zhaoqing Zhou, Elaine A. Sugarman et al. · Genetics in Medicine · 2002 · 81 citations · Full text

, , +13