How to Use the GeneReviews Advanced Search
Enter your search term in the appropriate search field (Disorder, Gene Symbol, etc.). You may search on one field, or multiple fields using AND, OR, or NOT.
Search Options for GeneReviews
Disorder returns any GeneReview chapter for which the search term is:
The title
A synonym of the disorder that is recognized by GeneReviews (e.g., Hunter syndrome – a synonym for mucopolysaccharidosis type II – will return the GeneReview chapter Mucopolysaccharidosis Type II)
A disorder included in the scope of a GeneReview (e.g., fragile X syndrome will return the GeneReview chapter FMR1-Related Disorders, which includes fragile X syndrome)
This search can be used in two ways:
Gene Symbol returns the GeneReview chapter(s) associated with changes in the specified gene. Use the auto-complete feature to guarantee a search result: begin typing, and then select the desired gene symbol from the drop-down options that appear. Partial gene symbols will not return results.
Note: Gene symbol nomenclature used in GeneReviews follows the standard naming conventions of HGNC.
Author returns any GeneReview chapter(s) by a current author whose surname is an exact match for the search term. This search can be used in two ways:
Auto-complete. Begin typing, and then select the desired author (surname + initials) from the drop-down options that appear.
For broader search results. Type a full surname and click "Search," ignoring the drop-down list; your results will include all GeneReviews by any current author with that surname.
All Fields (found on the advanced search page as well as the GeneReviews
home page) is useful for identifying GeneReviews that discuss disorders that share specific characteristics. For example, a search on deafness eye x-linked (in any order) returns GeneReview chapters in which any (or any combination) of these terms is found. Note: For technical details on this search option, see Searching Bookshelf.
Full Text is useful for finding an exact phrase in a GeneReview; (e.g., a search on liver transplant yields only those GeneReviews in which this phrase appears verbatim).
Protein Name returns GeneReview chapters associated with changes in a specific protein. This search can be used in two ways:
Auto-complete. Begin typing, and then select the desired protein name from the drop-down options that appear.
For broader search results. Type part of a protein name and click "Search," ignoring the drop-down list. Note: Partial protein names may not return results.
Note: Protein nomenclature used in GeneReviews follows the standard naming conventions of UniProt.
Overviews Only
View overviews only. To see a list of all GeneReview overviews, select "Only Overviews," leave all search fields blank, and click "Search."
Search overviews only. To perform an "All Fields" or "Full Text" search of overviews only, select "Only Overviews" and then proceed with your search.
GeneReviews Advanced Search Hints
In searching by "Disorder," the auto-complete option is not always the best choice.
If you are searching on a general term (e.g., ataxia, cardiomyopathy, neuropathy) the number of possible matches (i.e., GeneReview titles plus any synonyms and included disorders) will likely exceed the maximum number that can be shown
in the drop-down list (20) – in which case there is no way to know how many more possible matches there are. To circumvent this limitation and obtain a search result that includes all relevant GeneReviews, enter your general search term and click "Search," ignoring the drop-down list.
If you are looking for a specific disorder and do not see the disorder name in the drop-down list, try one of the following:
Try the "All Fields" search if you are not receiving what you expect from another search type.
Since "All Fields" has fewer limitations than the specific search categories, it may return results where other options do not.
If "All Fields" yields too many results, try entering more than one term in the search field (e.g., epilepsy yields >130 results, while epilepsy adult-onset yields ~30).
The display of your search results can be altered
by clicking on "Display Settings" at the top of the results page.
Order of results. Search results display in order of relevance (based on the number of times a term is found in each GeneReview chapter). To see the titles of the GeneReviews in your search result in alphabetical order, change Sort by from "Relevance" to "Title."
Items per page. You can also increase or decrease the number of search results shown on a page.
GeneReviews Advanced Search Questions
Q: I searched on and selected a specific disorder name using the "Disorder" search drop-down list, and I got a GeneReview with a completely different title.
A: Two possible explanations:
Your search term may be a synonym for the GeneReview title (e.g., a search for GM2 gangliosidosis will return the GeneReview chapter titled Hexosaminidase A Deficiency, for which GM2 gangliosidosis is a recognized synonym.) Note: Synonyms are listed at the top of the GeneReview chapter, following the title.
Many GeneReview chapter titles are based on a specific gene (e.g., MED12-Related Disorders). In this case, your search term is likely a disorder included in the scope of the GeneReview (e.g., a search for Lujan syndrome will yield MED12-Related Disorders as a result, as Lujan syndrome is one of the disorders included in this GeneReview).
Q: I know the name of one of the authors on the GeneReview I'm trying to find, but when I search on the author's name, I don't get any results.
A: Two possible explanations:
Q: I entered search information in more than one category, and I don't get any results.
A: The default setting for the GeneReviews Advanced Search combines terms using "AND." With "AND," each additional search term further limits your results (e.g., Disorder "ataxia" AND Author "Bird TD" yields only those GeneReviews that feature (1) the word "ataxia" in the title or synonyms AND (2) Bird TD as an author).
You can change this default in the "AND" box to "OR" or "NOT":
A search of Disorder "ataxia" OR Author "Bird TD" returns all GeneReview chapters that have either Ataxia within the title or synonyms OR Bird TD as the author; this will be a longer list.
Using the same example with the "NOT" option (Disorder "ataxia" NOT Author "Bird TD") returns GeneReview chapters with "ataxia" in the title or synonyms for which Bird TD is not an author.
For further explanation of Boolean operators, see Combining search terms with Boolean operators (AND, OR, NOT).
Q: I entered a search term, and I don't get any results.
A: You may have entered only part of a word, in which case a match will not always be found (e.g., a Gene Symbol search on BRCA will locate neither BRCA1 nor BRCA2). If you are searching by Gene Symbol, Author, or Protein Name, the auto-complete feature is the best way to ensure a successful result; if you do not see your search term in the drop-down list, it is not in the GeneReviews database.
