{"id":"https://openalex.org/W1520786604","doi":null,"title":"Proceed with care: direct predictive testing for Huntington disease.","display_name":"Proceed with care: direct predictive testing for Huntington disease.","publication_year":1994,"publication_date":"1994-10-01","ids":{"openalex":"https://openalex.org/W1520786604","mag":"1520786604","pmid":"https://pubmed.ncbi.nlm.nih.gov/7942838","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1918294"},"language":"en","primary_location":{"id":"pmid:7942838","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7942838","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American journal of human genetics","raw_type":"Clinical Trial"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC1918294/","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5029894608","display_name":"Caroline M. Benjamin","orcid":"https://orcid.org/0000-0002-0021-3650","observed_orcids":["https://orcid.org/0000-0002-0021-3650"]},"institutions":[{"id":"https://openalex.org/I141945490","display_name":"University of British Columbia","ror":"https://ror.org/03rmrcq20","country_code":"CA","type":"education","lineage":["https://openalex.org/I141945490"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"C M Benjamin","raw_affiliation_strings":["Department of Medical Genetics, University of British Columbia, Vancouver, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, University of British Columbia, Vancouver, Canada","institution_ids":["https://openalex.org/I141945490"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053473478","display_name":"Shelin Adam","orcid":"https://orcid.org/0000-0002-4401-6157","observed_orcids":["https://orcid.org/0000-0002-4401-6157"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S Adam","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111563668","display_name":"S Wiggins","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S Wiggins","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090051128","display_name":"Jane Theilmann","orcid":"https://orcid.org/0000-0001-8679-8006","observed_orcids":["https://orcid.org/0000-0001-8679-8006"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J L Theilmann","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087532890","display_name":"Tobin T. Copley","orcid":"https://orcid.org/0000-0003-1791-2711","observed_orcids":["https://orcid.org/0000-0003-1791-2711"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"T T Copley","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110235236","display_name":"Maurice Bloch","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M Bloch","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013512498","display_name":"Ferdinando Squitieri","orcid":"https://orcid.org/0000-0002-7397-1727","observed_orcids":["https://orcid.org/0000-0002-7397-1727"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"F Squitieri","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055865380","display_name":"William H. McKellin","orcid":"https://orcid.org/0000-0002-1217-3035","observed_orcids":["https://orcid.org/0000-0002-1217-3035"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"W McKellin","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067680840","display_name":"Susan Cox","orcid":"https://orcid.org/0000-0001-7459-9587","observed_orcids":["https://orcid.org/0000-0001-7459-9587"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S Cox","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5026190985","display_name":"Shalom Brown","orcid":"https://orcid.org/0000-0002-4964-5753","observed_orcids":["https://orcid.org/0000-0002-4964-5753"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S A Brown","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":2.5069,"has_fulltext":false,"cited_by_count":106,"citation_normalized_percentile":{"value":0.90525926,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"55","issue":"4","first_page":"606","last_page":"17"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":9.999999747378752e-05,"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/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/huntington-s-disease","display_name":"Huntington's disease","score":1.0},{"id":"https://openalex.org/keywords/predictive-genetic-testing","display_name":"predictive genetic testing","score":0.925000011920929},{"id":"https://openalex.org/keywords/cag-repeat-expansion","display_name":"CAG repeat expansion","score":0.9340000152587891},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.9079999923706055},{"id":"https://openalex.org/keywords/linked-markers","display_name":"linked markers","score":0.5450000166893005},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.6740000247955322},{"id":"https://openalex.org/keywords/adult-onset-disease","display_name":"adult-onset disease","score":0.6710000038146973},{"id":"https://openalex.org/keywords/at-risk-relatives","display_name":"at-risk relatives","score":0.625},{"id":"https://openalex.org/keywords/symptomatic-individuals","display_name":"symptomatic individuals","score":0.5619999766349792}],"concepts":[{"id":"https://openalex.org/C134534832","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Predictive testing","level":3,"score":0.9446227550506592},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.6595563292503357},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.5583323836326599},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5237274765968323},{"id":"https://openalex.org/C12174686","wikidata":"https://www.wikidata.org/wiki/Q1058438","display_name":"Risk assessment","level":2,"score":0.5208621621131897},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.515079915523529},{"id":"https://openalex.org/C158951850","wikidata":"https://www.wikidata.org/wiki/Q17004546","display_name":"Carrier testing","level":5,"score":0.4854629635810852},{"id":"https://openalex.org/C2994273702","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Dna testing","level":2,"score":0.4738124907016754},{"id":"https://openalex.org/C2778258057","wikidata":"https://www.wikidata.org/wiki/Q1136569","display_name":"Prenatal diagnosis","level":4,"score":0.294992059469223},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2736890912055969},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.22058650851249695},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.1868835985660553},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.16395044326782227},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.08825892210006714},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.0},{"id":"https://openalex.org/C38652104","wikidata":"https://www.wikidata.org/wiki/Q3510521","display_name":"Computer security","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002170","descriptor_name":"Canada","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005190","descriptor_name":"Family","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006816","descriptor_name":"Huntington Disease","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D006816","descriptor_name":"Huntington Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009460","descriptor_name":"Neurologic Examination","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011237","descriptor_name":"Predictive Value of Tests","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011247","descriptor_name":"Pregnancy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011296","descriptor_name":"Prenatal Diagnosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011581","descriptor_name":"Psychological Tests","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011795","descriptor_name":"Surveys and Questionnaires","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012091","descriptor_name":"Repetitive Sequences, Nucleic Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":5,"locations":[{"id":"pmid:7942838","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7942838","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American journal of human genetics","raw_type":"Clinical Trial"},{"id":"pmh:oai:pubmedcentral.nih.gov:1918294","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC1918294/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Am J Hum Genet","raw_type":"Text"},{"id":"pmh:oai:clok.uclan.ac.uk:8237","doi":null,"is_oa":false,"landing_page_url":"https://clok.uclan.ac.uk/8237/","pdf_url":null,"source":{"id":"https://openalex.org/S4306402361","display_name":"CLOK (University of Central Lancashire)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I185852735","host_organization_name":"University of Lancashire","host_organization_lineage":["https://openalex.org/I185852735"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"","raw_type":"Article"},{"id":"pmh:oai:repository.library.georgetown.edu:10822/526914","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/10822/526914","pdf_url":null,"source":{"id":"https://openalex.org/S4306402467","display_name":"DigitalGeorgetown (Georgetown University Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210145449","host_organization_name":"Center for Security and Emerging Technology","host_organization_lineage":["https://openalex.org/I4210145449"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"144080","raw_type":null},{"id":"mag:1520786604","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7942838","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:1918294","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC1918294/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Am J Hum Genet","raw_type":"Text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9537000060081482,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":40,"referenced_works":["https://openalex.org/W106064190","https://openalex.org/W1484496882","https://openalex.org/W1525558176","https://openalex.org/W1566906269","https://openalex.org/W1579250505","https://openalex.org/W1927945937","https://openalex.org/W1964585844","https://openalex.org/W1965271056","https://openalex.org/W1973055895","https://openalex.org/W1974334262","https://openalex.org/W1976660319","https://openalex.org/W1992113775","https://openalex.org/W1994285647","https://openalex.org/W1994303591","https://openalex.org/W1996946921","https://openalex.org/W2025604103","https://openalex.org/W2035070579","https://openalex.org/W2041469949","https://openalex.org/W2058376851","https://openalex.org/W2067495470","https://openalex.org/W2081980340","https://openalex.org/W2087148472","https://openalex.org/W2114639593","https://openalex.org/W2114999674","https://openalex.org/W2115723104","https://openalex.org/W2117306860","https://openalex.org/W2119123380","https://openalex.org/W2121324076","https://openalex.org/W2125849243","https://openalex.org/W2131641749","https://openalex.org/W2142220330","https://openalex.org/W2145637378","https://openalex.org/W2156243335","https://openalex.org/W2158480151","https://openalex.org/W2170963612","https://openalex.org/W2317137640","https://openalex.org/W2319077694","https://openalex.org/W2407214428","https://openalex.org/W2769888961","https://openalex.org/W4249315256"],"related_works":["https://openalex.org/W1938315359","https://openalex.org/W2412208960","https://openalex.org/W2911346785","https://openalex.org/W2086041919","https://openalex.org/W2099601362","https://openalex.org/W4205129438","https://openalex.org/W4234890190","https://openalex.org/W1969407305","https://openalex.org/W2052175912","https://openalex.org/W2019114288"],"abstract_inverted_index":null,"counts_by_year":[{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":5}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}
