{"id":"https://openalex.org/W834864294","doi":null,"title":"Whole Exome Sequencing (WES) indentifies a mutation in ALPK1 responsible for a novel, autosomal dominant disorder of vision loss, splenomegaly, and pancytopenia","display_name":"Whole Exome Sequencing (WES) indentifies a mutation in ALPK1 responsible for a novel, autosomal dominant disorder of vision loss, splenomegaly, and pancytopenia","publication_year":2013,"publication_date":"2013-06-16","ids":{"openalex":"https://openalex.org/W834864294","mag":"834864294"},"language":"en","primary_location":{"id":"mag:834864294","doi":null,"is_oa":false,"landing_page_url":"https://iovs.arvojournals.org/article.aspx?articleid=2148141","pdf_url":null,"source":{"id":"https://openalex.org/S76304953","display_name":"Investigative Ophthalmology & Visual Science","issn_l":"0146-0404","issn":["0146-0404","1552-5783"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-2","ki-jl-2","medline","norway-2","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310321950","host_organization_name":"Cadmus Press","host_organization_lineage":["https://openalex.org/P4310321950"],"host_organization_lineage_names":["Cadmus Press"],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Investigative Ophthalmology & Visual Science","raw_type":null},"volume":null,"type":"article","indexed_in":[],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Lewis Williams","orcid":"https://orcid.org/0000-0002-1876-7352","observed_orcids":["https://orcid.org/0000-0002-1876-7352"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Lewis Williams","raw_affiliation_strings":["Cornea Department, Wilmer Eye Center, Baltimore, MD"],"raw_orcid":"https://orcid.org/0000-0002-1876-7352","affiliations":[{"raw_affiliation_string":"Cornea Department, Wilmer Eye Center, Baltimore, MD","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066045984","display_name":"Chad Daniel Huff","orcid":"https://orcid.org/0000-0002-1100-9364","observed_orcids":["https://orcid.org/0000-0002-1100-9364"]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Chad Huff","raw_affiliation_strings":["University of Utah; Salt Lake City; UT"],"raw_orcid":"https://orcid.org/0000-0002-1100-9364","affiliations":[{"raw_affiliation_string":"University of Utah; Salt Lake City; UT","institution_ids":["https://openalex.org/I223532165"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086662227","display_name":"Denise J. Morgan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Denise J. Morgan","raw_affiliation_strings":["Ophthalmology University of Utah Salt Lake City UT"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ophthalmology University of Utah Salt Lake City UT","institution_ids":["https://openalex.org/I223532165"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086400085","display_name":"Rosann Robinson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Rosann Robinson","raw_affiliation_strings":["Ophthalmology University of Utah Salt Lake City UT"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ophthalmology University of Utah Salt Lake City UT","institution_ids":["https://openalex.org/I223532165"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110124714","display_name":"Margaux A. Morrison","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Margaux A. Morrison","raw_affiliation_strings":["Ophthalmology University of Utah Salt Lake City UT"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ophthalmology University of Utah Salt Lake City UT","institution_ids":["https://openalex.org/I223532165"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052014807","display_name":"Krista I. Kinard","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Krista Kinard","raw_affiliation_strings":["Ophthalmology University of Utah Salt Lake City UT"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ophthalmology University of Utah Salt Lake City UT","institution_ids":["https://openalex.org/I223532165"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002698865","display_name":"George M. Rodgers","orcid":"https://orcid.org/0000-0003-1234-0128","observed_orcids":["https://orcid.org/0000-0003-1234-0128"]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"George M. Rodgers","raw_affiliation_strings":["Hematology, University of Utah, Salt Lake City, UT"],"raw_orcid":"https://orcid.org/0000-0003-1234-0128","affiliations":[{"raw_affiliation_string":"Hematology, University of Utah, Salt Lake City, UT","institution_ids":["https://openalex.org/I223532165"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077447314","display_name":"Kathleen B. Digre","orcid":"https://orcid.org/0000-0003-2011-418X","observed_orcids":["https://orcid.org/0000-0003-2011-418X"]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kathleen B. Digre","raw_affiliation_strings":["Ophthalmology University of Utah Salt Lake City UT"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ophthalmology University of Utah Salt Lake City UT","institution_ids":["https://openalex.org/I223532165"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5049562691","display_name":"Margaret M. DeAngelis","orcid":"https://orcid.org/0000-0003-3731-142X","observed_orcids":["https://orcid.org/0000-0003-3731-142X"]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Margaret M. DeAngelis","raw_affiliation_strings":["Ophthalmology University of Utah Salt Lake City UT"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ophthalmology University of Utah Salt Lake City UT","institution_ids":["https://openalex.org/I223532165"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":1850,"currency":"USD","value_usd":1850},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0420048,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"54","issue":"15","first_page":"3367","last_page":"3367"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.4629000127315521,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.4629000127315521,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.2257000058889389,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11194","display_name":"Ocular Diseases and Beh\u00e7et\u2019s Syndrome","score":0.028699999675154686,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/alpk1","display_name":"ALPK1","score":0.9629999995231628},{"id":"https://openalex.org/keywords/mutation","display_name":"genetic mutations","score":0.5099999904632568},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.9120000004768372},{"id":"https://openalex.org/keywords/vision-loss","display_name":"vision loss","score":0.9409999847412109},{"id":"https://openalex.org/keywords/splenomegaly","display_name":"splenomegaly","score":0.9240000247955322},{"id":"https://openalex.org/keywords/pancytopenia","display_name":"pancytopenia","score":0.9980000257492065},{"id":"https://openalex.org/keywords/whole-exome-sequencing","display_name":"exome sequencing","score":0.7910000085830688}],"concepts":[{"id":"https://openalex.org/C2779382419","wikidata":"https://www.wikidata.org/wiki/Q1757427","display_name":"Pancytopenia","level":3,"score":0.9207439422607422},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.8517910838127136},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.5854664444923401},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5007443428039551},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.46240097284317017},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.42567330598831177},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.32726383209228516},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.1907489001750946},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.10771241784095764},{"id":"https://openalex.org/C2780007613","wikidata":"https://www.wikidata.org/wiki/Q546523","display_name":"Bone marrow","level":2,"score":0.054889172315597534}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:834864294","doi":null,"is_oa":false,"landing_page_url":"https://iovs.arvojournals.org/article.aspx?articleid=2148141","pdf_url":null,"source":{"id":"https://openalex.org/S76304953","display_name":"Investigative Ophthalmology & Visual Science","issn_l":"0146-0404","issn":["0146-0404","1552-5783"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-2","ki-jl-2","medline","norway-2","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310321950","host_organization_name":"Cadmus Press","host_organization_lineage":["https://openalex.org/P4310321950"],"host_organization_lineage_names":["Cadmus Press"],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Investigative Ophthalmology & Visual Science","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.5683000087738037}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W3213009607","https://openalex.org/W825770324","https://openalex.org/W7218268227","https://openalex.org/W2577500614","https://openalex.org/W766680572","https://openalex.org/W1545860424","https://openalex.org/W938132467","https://openalex.org/W4297229452","https://openalex.org/W775831406","https://openalex.org/W2770031253"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-09-27T08:07:27.782135","created_date":"2016-06-24T00:00:00"}