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Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.

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GeneReviews® [Internet].

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GeneReviews Advanced Search Help

Initial Posting: .

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:

  • Auto-complete. Begin typing and then select the desired disorder from the drop-down options. Note: The drop-down list is limited to 20 items and includes GeneReview synonyms and included disorders as well as titles. As a result, the auto-complete option may not allow you to see all the possible GeneReview matches. Consider using the For broader search results option (see following bullet). See also Advanced Search Hints.
  • For broader search results. Type part of a disorder name (e.g., ataxia) and click ‘Search,’ ignoring the drop-down list.

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:
    • Type in more of the disorder name until a match appears in the drop-down list.
    • Use the ‘All Fields’ search (see following hint).

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:

  • You may be spelling the name incorrectly. Type the first few letters of the author’s surname and select from the auto-complete options that appear.
  • The author whose name you are searching on may not be current (i.e., he/she may have elected not to participate in the most recent update of the GeneReview in question). Check the Author List, which includes both current and former authors and provides links to their GeneReviews.

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.


Copyright © 1993-2017, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2017 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

Bookshelf ID: NBK133289

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