{"id":"https://openalex.org/W4390191663","doi":"https://doi.org/10.1002/alz.078005","title":"Investigating the Genetics of Sporadic Early\u2010Onset Alzheimer\u2019s Disease","display_name":"Investigating the Genetics of Sporadic Early\u2010Onset Alzheimer\u2019s Disease","publication_year":2023,"publication_date":"2023-12-01","ids":{"openalex":"https://openalex.org/W4390191663","doi":"https://doi.org/10.1002/alz.078005"},"language":"en","primary_location":{"id":"doi:10.1002/alz.078005","doi":"https://doi.org/10.1002/alz.078005","is_oa":true,"landing_page_url":"https://doi.org/10.1002/alz.078005","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/alz.078005","source":{"id":"https://openalex.org/S108427512","display_name":"Alzheimer s & Dementia","issn_l":"1552-5260","issn":["1552-5260","1552-5279"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-3","ki-jl-3","medline","norway-1","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Alzheimer's &amp; Dementia","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/alz.078005","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5070191350","display_name":"Kelly Nicole Holohan Nudelman","orcid":"https://orcid.org/0000-0003-4040-1717","observed_orcids":["https://orcid.org/0000-0003-4040-1717"]},"institutions":[{"id":"https://openalex.org/I4388446366","display_name":"Indiana University Indianapolis","ror":"https://ror.org/03eftgw80","country_code":"US","type":"education","lineage":["https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":null,"type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Kelly N. H. Nudelman","raw_affiliation_strings":["Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN  USA","Indiana Alzheimer\u2019s Disease Research Center, Indianapolis, IN  USA","Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN  USA","institution_ids":["https://openalex.org/I4394709130"]},{"raw_affiliation_string":"Indiana Alzheimer\u2019s Disease Research Center, Indianapolis, IN  USA","institution_ids":[]},{"raw_affiliation_string":"Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA","institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I4394709130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088180421","display_name":"Trever Jackson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4388446366","display_name":"Indiana University Indianapolis","ror":"https://ror.org/03eftgw80","country_code":"US","type":"education","lineage":["https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":null,"type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Trever Jackson","raw_affiliation_strings":["Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN  USA","Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN  USA","institution_ids":["https://openalex.org/I4394709130"]},{"raw_affiliation_string":"Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA","institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I4394709130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062773469","display_name":"Malia C. Rumbaugh","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4388446366","display_name":"Indiana University Indianapolis","ror":"https://ror.org/03eftgw80","country_code":"US","type":"education","lineage":["https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":null,"type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Malia C. Rumbaugh","raw_affiliation_strings":["Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN  USA","Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN  USA","institution_ids":["https://openalex.org/I4394709130"]},{"raw_affiliation_string":"Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA","institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I4394709130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080505451","display_name":"Ani Eloyan","orcid":"https://orcid.org/0000-0002-8110-7680","observed_orcids":["https://orcid.org/0000-0002-8110-7680"]},"institutions":[{"id":"https://openalex.org/I27804330","display_name":"Brown University","ror":"https://ror.org/05gq02987","country_code":"US","type":"education","lineage":["https://openalex.org/I27804330"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ani Eloyan","raw_affiliation_strings":["Brown University, Providence, RI  USA","Brown University, Providence, RI, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Brown University, Providence, RI  USA","institution_ids":["https://openalex.org/I27804330"]},{"raw_affiliation_string":"Brown University, Providence, RI, USA","institution_ids":["https://openalex.org/I27804330"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5092767135","display_name":"Julian V. Pentchev","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210119109","display_name":"Indiana University Bloomington","ror":"https://ror.org/02k40bc56","country_code":"US","type":"education","lineage":["https://openalex.org/I4210119109","https://openalex.org/I592451"]},{"id":"https://openalex.org/I592451","display_name":"Indiana University","ror":"https://ror.org/01kg8sb98","country_code":"US","type":"education","lineage":["https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Julian V. Pentchev","raw_affiliation_strings":["Indiana University, Bloomington, IN  USA","Indiana University, Bloomington, IN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Indiana University, Bloomington, IN  USA","institution_ids":["https://openalex.org/I4210119109","https://openalex.org/I592451"]},{"raw_affiliation_string":"Indiana University, Bloomington, IN, USA","institution_ids":["https://openalex.org/I4210119109","https://openalex.org/I592451"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5106323349","display_name":"Kelley M. Faber","orcid":"https://orcid.org/0000-0003-3224-2736","observed_orcids":["https://orcid.org/0000-0003-3224-2736"]},"institutions":[{"id":"https://openalex.org/I4388446366","display_name":"Indiana University Indianapolis","ror":"https://ror.org/03eftgw80","country_code":"US","type":"education","lineage":["https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":null,"type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kelley M. Faber","raw_affiliation_strings":["Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN  USA","Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN  USA","institution_ids":["https://openalex.org/I4394709130"]},{"raw_affiliation_string":"Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA","institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I4394709130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5092544368","display_name":"Casey Snoddy","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4388446366","display_name":"Indiana University Indianapolis","ror":"https://ror.org/03eftgw80","country_code":"US","type":"education","lineage":["https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":null,"type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Casey Snoddy","raw_affiliation_strings":["Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN  USA","Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN  USA","institution_ids":["https://openalex.org/I4394709130"]},{"raw_affiliation_string":"Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA","institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I4394709130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048034644","display_name":"Tatiana Foroud","orcid":"https://orcid.org/0000-0002-5549-2212","observed_orcids":["https://orcid.org/0000-0002-5549-2212"]},"institutions":[{"id":"https://openalex.org/I4388446366","display_name":"Indiana University Indianapolis","ror":"https://ror.org/03eftgw80","country_code":"US","type":"education","lineage":["https://openalex.org/I4388446366","https://openalex.org/I592451"]},{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":null,"type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Tatiana M. Foroud","raw_affiliation_strings":["Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN  USA","Indiana Alzheimer\u2019s Disease Research Center, Indianapolis, IN  USA","Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN  USA","institution_ids":["https://openalex.org/I4394709130"]},{"raw_affiliation_string":"Indiana Alzheimer\u2019s Disease Research Center, Indianapolis, IN  USA","institution_ids":[]},{"raw_affiliation_string":"Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA","institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I4394709130"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027031712","display_name":"Mar\u00eda C. Carrillo","orcid":"https://orcid.org/0000-0003-3057-2387","observed_orcids":["https://orcid.org/0000-0003-3057-2387"]},"institutions":[{"id":"https://openalex.org/I1279571640","display_name":"Alzheimer's Association","ror":"https://ror.org/0375f4d26","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I1279571640"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Maria C. Carrillo","raw_affiliation_strings":["Alzheimer\u2019s Association, Chicago, IL  USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Alzheimer\u2019s Association, Chicago, IL  USA","institution_ids":["https://openalex.org/I1279571640"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086955468","display_name":"Bradford Clark Dickerson","orcid":"https://orcid.org/0000-0002-5958-3445","observed_orcids":["https://orcid.org/0000-0002-5958-3445"]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Brad C. Dickerson","raw_affiliation_strings":["Department of Neurology, Harvard Medical School, Boston, MA  USA","Massachusetts Alzheimer\u2019s Disease Research Center, Massachusetts General Hospital, Boston, MA  USA","Massachusetts Alzheimer\u2019s Disease Research Center, Massachusetts General Hospital, Boston, MA USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Harvard Medical School, Boston, MA  USA","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Massachusetts Alzheimer\u2019s Disease Research Center, Massachusetts General Hospital, Boston, MA  USA","institution_ids":["https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Massachusetts Alzheimer\u2019s Disease Research Center, Massachusetts General Hospital, Boston, MA USA","institution_ids":["https://openalex.org/I4210087915"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052536571","display_name":"Gil Dan Rabinovici","orcid":"https://orcid.org/0000-0002-3626-4265","observed_orcids":["https://orcid.org/0000-0002-3626-4265"]},"institutions":[{"id":"https://openalex.org/I180670191","display_name":"University of California, San Francisco","ror":"https://ror.org/043mz5j54","country_code":"US","type":"education","lineage":["https://openalex.org/I180670191"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Gil D. Rabinovici","raw_affiliation_strings":["Department of Neurology, Memory and Aging Center, University of California San Francisco, San Francisco, CA  USA","Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA  USA","Department of Neurology, Memory and Aging Center, University of California San Francisco, San Francisco, CA, USA","Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Memory and Aging Center, University of California San Francisco, San Francisco, CA  USA","institution_ids":["https://openalex.org/I180670191"]},{"raw_affiliation_string":"Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA  USA","institution_ids":["https://openalex.org/I180670191"]},{"raw_affiliation_string":"Department of Neurology, Memory and Aging Center, University of California San Francisco, San Francisco, CA, USA","institution_ids":["https://openalex.org/I180670191"]},{"raw_affiliation_string":"Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA, USA","institution_ids":["https://openalex.org/I180670191"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5033942521","display_name":"Liana G. Apostolova","orcid":"https://orcid.org/0000-0003-1823-2451","observed_orcids":["https://orcid.org/0000-0003-1823-2451"]},"institutions":[{"id":"https://openalex.org/I4394709130","display_name":"Indiana University School of Medicine","ror":"https://ror.org/02ets8c94","country_code":null,"type":"education","lineage":["https://openalex.org/I4394709130","https://openalex.org/I592451"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Liana G. Apostolova","raw_affiliation_strings":["Department of Neurology, Indiana University School of Medicine, Indianapolis, IN  USA","Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, IN  USA","Indiana Alzheimer\u2019s Disease Research Center, Indianapolis, IN  USA","Department of Neurology, Indiana University School of Medicine, Indianapolis, IN, USA","Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, IN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Indiana University School of Medicine, Indianapolis, IN  USA","institution_ids":["https://openalex.org/I4394709130"]},{"raw_affiliation_string":"Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, IN  USA","institution_ids":["https://openalex.org/I4394709130"]},{"raw_affiliation_string":"Indiana Alzheimer\u2019s Disease Research Center, Indianapolis, IN  USA","institution_ids":[]},{"raw_affiliation_string":"Department of Neurology, Indiana University School of Medicine, Indianapolis, IN, USA","institution_ids":["https://openalex.org/I4394709130"]},{"raw_affiliation_string":"Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, IN, USA","institution_ids":["https://openalex.org/I4394709130"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":9,"corresponding_author_ids":["https://openalex.org/A5070191350"],"corresponding_institution_ids":["https://openalex.org/I4388446366","https://openalex.org/I4394709130"],"apc_list":{"value":3000,"currency":"USD","value_usd":3000},"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.238505,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"19","issue":"S24","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10086","display_name":"Alzheimer's disease research and treatments","score":0.9326000213623047,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10086","display_name":"Alzheimer's disease research and treatments","score":0.9326000213623047,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10009","display_name":"Dementia and Cognitive Impairment Research","score":0.06239999830722809,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10855","display_name":"Amyotrophic Lateral Sclerosis Research","score":0.00139999995008111,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"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/early-onset-alzheimer-s-disease","display_name":"early-onset Alzheimer's disease","score":0.9850000143051147},{"id":"https://openalex.org/keywords/sporadic-alzheimer-s-disease","display_name":"sporadic Alzheimer's disease","score":0.7990000247955322}],"concepts":[{"id":"https://openalex.org/C2776485563","wikidata":"https://www.wikidata.org/wiki/Q18253272","display_name":"PSEN1","level":5,"score":0.9513934850692749},{"id":"https://openalex.org/C2777898937","wikidata":"https://www.wikidata.org/wiki/Q5008447","display_name":"C9orf72","level":5,"score":0.851143479347229},{"id":"https://openalex.org/C2778641062","wikidata":"https://www.wikidata.org/wiki/Q18592","display_name":"Frontotemporal dementia","level":4,"score":0.7890429496765137},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.6116540431976318},{"id":"https://openalex.org/C175344181","wikidata":"https://www.wikidata.org/wiki/Q907198","display_name":"Presenilin","level":4,"score":0.5954525470733643},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5892370343208313},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5364426374435425},{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.5077705979347229},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.5035335421562195},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5028654932975769},{"id":"https://openalex.org/C2779483572","wikidata":"https://www.wikidata.org/wiki/Q83030","display_name":"Dementia","level":3,"score":0.44307368993759155},{"id":"https://openalex.org/C2781340033","wikidata":"https://www.wikidata.org/wiki/Q5326566","display_name":"Early-onset Alzheimer's disease","level":4,"score":0.4241366386413574},{"id":"https://openalex.org/C64474127","wikidata":"https://www.wikidata.org/wiki/Q1071953","display_name":"Medical genetics","level":3,"score":0.4241359531879425},{"id":"https://openalex.org/C502032728","wikidata":"https://www.wikidata.org/wiki/Q11081","display_name":"Alzheimer's disease","level":3,"score":0.41940388083457947},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.38167524337768555},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3062056303024292},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.18336060643196106},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.1760406196117401},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.13199540972709656},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.08828425407409668},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.08370795845985413}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1002/alz.078005","doi":"https://doi.org/10.1002/alz.078005","is_oa":true,"landing_page_url":"https://doi.org/10.1002/alz.078005","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/alz.078005","source":{"id":"https://openalex.org/S108427512","display_name":"Alzheimer s & Dementia","issn_l":"1552-5260","issn":["1552-5260","1552-5279"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-3","ki-jl-3","medline","norway-1","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Alzheimer's &amp; Dementia","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.1002/alz.078005","doi":"https://doi.org/10.1002/alz.078005","is_oa":true,"landing_page_url":"https://doi.org/10.1002/alz.078005","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/alz.078005","source":{"id":"https://openalex.org/S108427512","display_name":"Alzheimer s & Dementia","issn_l":"1552-5260","issn":["1552-5260","1552-5279"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-3","ki-jl-3","medline","norway-1","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Alzheimer's &amp; Dementia","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9940000176429749}],"sustainable_development_goals_aurora":[],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4390191663.pdf","grobid_xml":"https://content.openalex.org/works/W4390191663.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4312195495","https://openalex.org/W2904617210","https://openalex.org/W3146137584","https://openalex.org/W2070629815","https://openalex.org/W2122315265","https://openalex.org/W3037083721","https://openalex.org/W2087850142","https://openalex.org/W2469622974","https://openalex.org/W2766902548","https://openalex.org/W1983351866"],"abstract_inverted_index":{"Abstract":[0],"Background":[1],"Only":[2],"a":[3,292,319],"small":[4,320],"percentage":[5],"of":[6,49,210,264,307,322],"early\u2010onset":[7],"Alzheimer\u2019s":[8,59],"disease":[9,243,323],"(EOAD)":[10],"participants":[11,189],"are":[12,109],"known":[13],"to":[14,39,269,335,343],"carry":[15],"autosomal":[16],"dominant":[17],"pathogenic":[18,114,121,143,195,232,251,294,309],"variants":[19,97,134,144,171,196,233,252,267,310],"in":[20,29,54,145,172,200,208,221,236,253,299,311],"the":[21,50,55,157,164,213],"amyloid":[22],"beta":[23],"precursor":[24],"protein":[25,106],"(APP)":[26],"gene":[27],"or":[28,32,84,197,225,234,249,296,304],"presenilin":[30],"1":[31],"2":[33],"(PSEN1/2);":[34],"more":[35,331],"research":[36,332],"is":[37,72,89,117,153,278,333],"needed":[38,334],"identify":[40,336],"additional":[41,337],"causative":[42,286,338],"genetic":[43,52,283],"variants.":[44,115],"This":[45],"study":[46],"presents":[47],"results":[48,259,274],"initial":[51],"analyses":[53],"Longitudinal":[56],"Early":[57],"Onset":[58],"Disease":[60],"Study":[61],"(LEADS)":[62],"and":[63,95,103,129,160,185,204,244,256,339],"planned":[64],"next":[65],"steps.":[66],"Methods":[67],"Whole":[68],"exome":[69],"sequencing":[70],"(WES)":[71],"being":[73,154],"performed":[74],"for":[75,98,111,120,131,141,156,169,182,187,212,281],"all":[76,96],"cognitively":[77],"impaired":[78],"participants,":[79],"including":[80,241,247],"individuals":[81,230],"with":[82,127,231,239],"EOAD":[83],"frontotemporal":[85],"dementia.":[86],"Sequencing":[87],"data":[88,137],"processed":[90],"using":[91],"GATK":[92],"best":[93],"practices":[94],"APP,":[99,222,300],"PSEN1/2,":[100,223,301],"progranulin":[101],"(GRN),":[102],"microtubule":[104],"associated":[105],"tau":[107],"(MAPT)":[108],"reviewed":[110,140],"previously":[112],"reported":[113,142,248,293,308],"C9ORF72":[116],"also":[118,228],"assessed":[119],"repeat":[122,198,297],"expansions.":[123],"WES":[124,136,178],"was":[125],"analyzed":[126],"CANOES":[128],"CoNIFER":[130],"copy":[132],"number":[133],"(CNVs).":[135],"has":[138,179],"been":[139,180],"other":[146,312],"neurodegenerative":[147,313],"disease\u2010associated":[148,314],"genes.":[149,174,216],"Gene":[150],"burden":[151],"testing":[152],"done":[155],"LEADS":[158,277],"cases":[159,211],"age\u2010matched":[161],"controls":[162],"from":[163],"Parkinson\u2019s":[165,242],"Progression":[166],"Markers":[167],"Initiative":[168],"rare":[170],"these":[173,329],"Results":[175],"To":[176],"date,":[177],"generated":[181],"301":[183],"cases,":[184,191],"GWAS":[186],"384":[188],"(290":[190],"89":[192],"controls).":[193],"Reported":[194],"expansions":[199],"C9ORF72,":[201],"PSEN1,":[202],"GRN,":[203,224,302],"MAPT":[205],"were":[206,219],"identified":[207,229],"2%":[209,290],"six":[214],"screened":[215],"No":[217],"CNVs":[218,235],"detected":[220],"MAPT.":[226],"Review":[227,306],"genes":[237,315],"linked":[238],"diseases":[240],"Niemann\u2010Pick":[245],"disease,":[246],"predicted":[250],"GBA,":[254],"LRRK2,":[255],"SMPD1.":[257],"Surprisingly,":[258],"do":[260],"not":[261],"show":[262],"enrichment":[263],"functional":[265],"TREM2":[266],"compared":[268],"population":[270],"frequency.":[271],"Conclusions":[272],"Initial":[273],"indicate":[275],"that":[276,317],"strongly":[279],"enriched":[280],"novel":[282],"risk":[284,340],"and/or":[285],"factors,":[287],"as":[288],"only":[289],"have":[291],"variant":[295],"expansion":[298],"MAPT,":[303],"C9ORF72.":[305],"indicates":[316],"while":[318],"portion":[321],"etiology":[324],"may":[325],"be":[326],"explained":[327],"by":[328],"variants,":[330],"factors":[341],"contributing":[342],"EOAD.":[344]},"counts_by_year":[],"updated_date":"2026-10-14T16:39:01.820549","created_date":"2025-10-10T00:00:00"}
