GeneReviews is an online database containing standardized peer-reviewed articles that describe specific heritable diseases. It was established in 1997 as GeneClinics by Roberta A Pagon (University of Washington) with funding from the National Institutes of Health.[1] Its focus is primarily on single-gene disorders, providing current disorder-specific information on diagnosis, management, and genetic counseling. Links to disease-specific and/or general consumer resources are included in each article when available. The database is published on the National Center for Biotechnology Information Bookshelf site. Articles are updated every four to five years or as needed, and revised whenever significant changes in clinically relevant information occur. Articles are searchable by author, title, gene, and name of disease or protein, and are available free of charge.[2]
^Pagon, Roberta A.; Tarczy-Hornoch, Peter; Baskin, Patricia K.; Edwards, Joseph E.; Covington, Maxine L.; Espeseth, Miriam; Beahler, Christine; Bird, Thomas D.; Popovich, Bradley (2002). "GeneTests-GeneClinics: Genetic testing information for a growing audience". Human Mutation. 19 (5): 501–9. doi:10.1002/humu.10069. PMID 11968082. S2CID 23996040.
GeneReviews is an online database containing standardized peer-reviewed articles that describe specific heritable diseases. It was established in 1997...
"Holoprosencephaly Overview". In Adam MP, Ardinger HH, Pagon RA, Wallace SE (eds.). GeneReviews®. Seattle (WA): University of Washington, Seattle. PMID 20301702. Retrieved...
Spectrum Disorder". GeneReviews. PMID 20301686. Dore; et al. (January 1987). "Cleidocranial Dysostosis and Syringomyelia Review of the Literature and...
Mirzaa GM, Pagon RA, Wallace SE, Bean LJ, Gripp KW, Amemiya A (eds.). GeneReviews. Seattle: University of Washington. PMID 20301545. Rohrer J, Ryan B,...
Gripp KW, Amemiya A (1993). Pagon RA, Bird TD, Dolan CR, et al. (eds.). GeneReviews [Internet]. Seattle WA: University of Washington, Seattle. PMID 20301295...
Lissencephaly at NINDS GeneReviews/NCBI/NIH/UW entry on DCX-Related Disorders OMIM entries on DCX-Related Disorders GeneReview/NIH/UW entry on LIS1 Lissencephaly...
GeneReviews Pulst, Stefan-M (1 March 2012). Spinocerebellar Ataxia Type 13. University of Washington, Seattle. PMID 20301404. NBK1225. In GeneReviews...
by a variety of recessively inherited mutations in the XK gene on the X chromosome. The gene is responsible for producing the Kx protein, a secondary supportive...
; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Krabbe Disease", GeneReviews®, University of Washington, Seattle, PMID 20301416, retrieved 2019-11-25...
Deletion Syndrome". In Pagon RA, Bird TD, Dolan CR, Stephens K (eds.). GeneReviews. University of Washington, Seattle. PMID 20301696. NBK1523. Firth HV...
Syrup Urine Disease". In Adam MP, Feldman J, Mirzaa GM, et al. (eds.). GeneReviews. University of Washington, Seattle. PMID 20301495. National Library of...
[1993–]. "Werner Syndrome". In Pagon RA, Bird TD, Dolan CR, et al. (eds.). GeneReviews. Seattle WA: University of Washington, Seattle. PMID 20301687. NBK1514...
Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Noonan Syndrome", GeneReviews®, University of Washington, Seattle, PMID 20301303, retrieved 2019-11-18...
with a movement disorder in The Washington Post GeneReview/NIH/UW entry on Dystonia Overview GeneReviews/NCBI/NIH/UW entry on Early-Onset Primary Dystonia...
Patient. Retrieved 12 January 2017. GeneReviews/NCBI/NIH/UW entry on 46,XX Testicular Disorder of Sex Development GeneReviews/NCBI/NIH/UW entry on 46,XY Disorder...
Roberta A.; Wallace, Stephanie E. (eds.), "Acute Intermittent Porphyria", GeneReviews®, University of Washington, Seattle, PMID 20301372, retrieved 2018-11-01...
"Shprintzen-Goldberg". In Pagon RA, Bird TD, Dolan CR, et al. (eds.). GeneReviews™ [Internet] (1993–). Seattle WA: University of Washington, Seattle. PMID 20301454...
Global Information