The national institutes of health undiagnosed diseases program: Insights into rare diseases

Genetics in Medicine

Volumn 14, Issue 1, 2012, Pages 51-59

  Gahl, William A ^a,b   Markello, Thomas C ^b   Toro, Camilo ^a   Fajardo, Karin Fuentes ^a   Sincan, Murat ^b   Gill, Fred ^c   Carlson Donohoe, Hannah ^b   Gropman, Andrea ^b,d   Pierson, Tyler Mark ^a,e   Golas, Gretchen ^a,b   Wolfe, Lynne ^a   Groden, Catherine ^a,b   Godfrey, Rena ^a   Nehrebecky, Michele ^a   Wahl, Colleen ^a   Landis, Dennis M D ^a   Yang, Sandra ^a,b   Madeo, Anne ^a   Mullikin, James C ^b   Boerkoel, Cornelius F ^a   Tifft, Cynthia J ^a,b   Adams, David ^a,b   more..

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

^d CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^e NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

Author keywords

neurological disorders; rare disease; SNP arrays; undiagnosed disease; whole exome sequencing

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; FEMALE; GENE TECHNOLOGY; GENETIC DISORDER; GENOME ANALYSIS; HEALTH PROGRAM; HOMOZYGOSITY; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; NATIONAL HEALTH ORGANIZATION; PHENOTYPE; RARE DISEASE; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 85028106080     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.0b013e318232a005     Document Type: Article

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