{"id":"https://openalex.org/W2199788941","doi":"https://doi.org/10.1016/j.nhtm.2015.09.001","title":"Lipid and sterol gene sequence variation in autism and correlates with neurodevelopmental status: A pilot study","display_name":"Lipid and sterol gene sequence variation in autism and correlates with neurodevelopmental status: A pilot study","publication_year":2015,"publication_date":"2015-09-24","ids":{"openalex":"https://openalex.org/W2199788941","doi":"https://doi.org/10.1016/j.nhtm.2015.09.001","mag":"2199788941"},"language":"en","primary_location":{"id":"doi:10.1016/j.nhtm.2015.09.001","doi":"https://doi.org/10.1016/j.nhtm.2015.09.001","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.nhtm.2015.09.001","pdf_url":null,"source":{"id":"https://openalex.org/S4306510132","display_name":"European Journal of Molecular & Clinical Medicine","issn_l":"2515-8260","issn":["2515-8260"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","poland-20"],"host_organization":"https://openalex.org/P4310320511","host_organization_name":"Ubiquity Press","host_organization_lineage":["https://openalex.org/P4310320511"],"host_organization_lineage_names":["Ubiquity Press"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Molecular & Clinical Medicine","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5018423180","display_name":"Trevor A. Hall","orcid":"https://orcid.org/0000-0003-2725-6885","observed_orcids":["https://orcid.org/0000-0003-2725-6885","https://orcid.org/0000-0002-4547-2971"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Trevor A. Hall","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051958225","display_name":"Robert D. Steiner","orcid":"https://orcid.org/0000-0003-4177-4590","observed_orcids":["https://orcid.org/0000-0003-4177-4590"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Robert D. Steiner","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112011002","display_name":"Hollis Wright","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Hollis Wright","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010834454","display_name":"Beth Wilmot","orcid":"https://orcid.org/0000-0003-3579-3592","observed_orcids":["https://orcid.org/0000-0003-3579-3592"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Beth Wilmot","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021199674","display_name":"Jean\u2010Baptiste Roullet","orcid":"https://orcid.org/0000-0003-0040-7540","observed_orcids":["https://orcid.org/0000-0003-0040-7540"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jean-Baptiste Roullet","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000681650","display_name":"Meaghan Peters","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Meaghan Peters","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":null,"display_name":"Michael Harris","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Michael Harris","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":2,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":93},"biblio":{"volume":"2","issue":"6-7","first_page":"137","last_page":"137"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10106","display_name":"Autism Spectrum Disorder Research","score":0.9878000020980835,"subfield":{"id":"https://openalex.org/subfields/2805","display_name":"Cognitive 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/T10106","display_name":"Autism Spectrum Disorder Research","score":0.9878000020980835,"subfield":{"id":"https://openalex.org/subfields/2805","display_name":"Cognitive 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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.010900000110268593,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.0003000000142492354,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/autism-spectrum-disorder","display_name":"autism spectrum disorder","score":0.9810000061988831},{"id":"https://openalex.org/keywords/lipid-metabolism","display_name":"lipid metabolism","score":0.9430000185966492},{"id":"https://openalex.org/keywords/sterol-metabolism","display_name":"sterol metabolism","score":0.9980000257492065},{"id":"https://openalex.org/keywords/genetic-variants","display_name":"genetic variants","score":0.6779999732971191},{"id":"https://openalex.org/keywords/nonsynonymous-mutations","display_name":"non-synonymous mutations","score":0.9909999966621399},{"id":"https://openalex.org/keywords/npc1","display_name":"NPC1","score":0.9190000295639038},{"id":"https://openalex.org/keywords/dhcr24","display_name":"DHCR24","score":0.9990000128746033},{"id":"https://openalex.org/keywords/novel-variants","display_name":"novel variants","score":0.6790000200271606},{"id":"https://openalex.org/keywords/genetic-biomarkers","display_name":"genetic biomarkers","score":0.5799999833106995},{"id":"https://openalex.org/keywords/whole-exome-sequencing","display_name":"exome sequencing","score":0.6420000195503235},{"id":"https://openalex.org/keywords/network-analysis","display_name":"network analysis","score":0.5889999866485596},{"id":"https://openalex.org/keywords/asd-etiology","display_name":"ASD etiology","score":0.722000002861023},{"id":"https://openalex.org/keywords/children-with-autism","display_name":"children with autism","score":0.6769999861717224},{"id":"https://openalex.org/keywords/dyslipidemia","display_name":"dyslipidemia","score":0.44600000977516174}],"concepts":[{"id":"https://openalex.org/C205778803","wikidata":"https://www.wikidata.org/wiki/Q38404","display_name":"Autism","level":2,"score":0.6794271469116211},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.554409921169281},{"id":"https://openalex.org/C2778718757","wikidata":"https://www.wikidata.org/wiki/Q143623","display_name":"Sterol","level":3,"score":0.5445007681846619},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4653265178203583},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.43050459027290344},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3322306275367737},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.2878301739692688},{"id":"https://openalex.org/C2778163477","wikidata":"https://www.wikidata.org/wiki/Q43656","display_name":"Cholesterol","level":2,"score":0.24398687481880188},{"id":"https://openalex.org/C138496976","wikidata":"https://www.wikidata.org/wiki/Q175002","display_name":"Developmental psychology","level":1,"score":0.20575276017189026},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.1618691086769104}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1016/j.nhtm.2015.09.001","doi":"https://doi.org/10.1016/j.nhtm.2015.09.001","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.nhtm.2015.09.001","pdf_url":null,"source":{"id":"https://openalex.org/S4306510132","display_name":"European Journal of Molecular & Clinical Medicine","issn_l":"2515-8260","issn":["2515-8260"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","poland-20"],"host_organization":"https://openalex.org/P4310320511","host_organization_name":"Ubiquity Press","host_organization_lineage":["https://openalex.org/P4310320511"],"host_organization_lineage_names":["Ubiquity Press"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Molecular & Clinical Medicine","raw_type":"journal-article"},{"id":"pmh:oai:doaj.org/article:bdbc9f08949244548611e47ce79d888e","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/bdbc9f08949244548611e47ce79d888e","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"European Journal of Molecular and Clinical Medicine, Vol 2, Iss 6-7, Pp 137-146 (2015)","raw_type":"article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":1.0,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320309233","display_name":"Oregon Health and Science University","ror":"https://ror.org/009avj582"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":56,"referenced_works":["https://openalex.org/W1541466608","https://openalex.org/W1545624230","https://openalex.org/W1604476085","https://openalex.org/W1606162411","https://openalex.org/W1967111730","https://openalex.org/W1973759448","https://openalex.org/W1985213868","https://openalex.org/W1986174779","https://openalex.org/W1987345438","https://openalex.org/W1989059126","https://openalex.org/W1989168127","https://openalex.org/W1993629125","https://openalex.org/W1999204296","https://openalex.org/W2000367221","https://openalex.org/W2003627479","https://openalex.org/W2007960303","https://openalex.org/W2008297014","https://openalex.org/W2010164205","https://openalex.org/W2012440746","https://openalex.org/W2025551837","https://openalex.org/W2036021040","https://openalex.org/W2039299884","https://openalex.org/W2058079272","https://openalex.org/W2071071267","https://openalex.org/W2074865927","https://openalex.org/W2084434716","https://openalex.org/W2086740582","https://openalex.org/W2093934810","https://openalex.org/W2105602862","https://openalex.org/W2109244562","https://openalex.org/W2109372707","https://openalex.org/W2109529720","https://openalex.org/W2117154339","https://openalex.org/W2119315359","https://openalex.org/W2120542299","https://openalex.org/W2122683221","https://openalex.org/W2139092938","https://openalex.org/W2140462713","https://openalex.org/W2141704631","https://openalex.org/W2143076431","https://openalex.org/W2144601878","https://openalex.org/W2156679744","https://openalex.org/W2159011576","https://openalex.org/W2159675211","https://openalex.org/W2162037295","https://openalex.org/W2162066558","https://openalex.org/W2163364301","https://openalex.org/W2163417125","https://openalex.org/W2163866579","https://openalex.org/W2167191014","https://openalex.org/W2614349964","https://openalex.org/W2913959566","https://openalex.org/W2937678484","https://openalex.org/W3196369884","https://openalex.org/W4285719527","https://openalex.org/W6673899003"],"related_works":["https://openalex.org/W2557125186","https://openalex.org/W2031716005","https://openalex.org/W4383739041","https://openalex.org/W4396675019","https://openalex.org/W3114034193","https://openalex.org/W2140653951","https://openalex.org/W4411367483","https://openalex.org/W1969018535","https://openalex.org/W2955503846","https://openalex.org/W2995593180"],"abstract_inverted_index":{"Objective":[0],"Research":[1],"has":[2],"uncovered":[3],"potential":[4],"links":[5],"between":[6,36,82,316,352,373],"lipid":[7,269,317,374],"and":[8,11,41,51,59,79,152,169,244,268,274,318,321,323,338,341,354,356,375,378,385,419,445,457,486],"sterol":[9,267,319,376],"metabolism":[10,270,320,355],"autism":[12],"spectrum":[13],"disorder":[14],"(ASD).":[15],"We":[16,105,157],"worked":[17],"to":[18,32,54,87,111,114,132,165,227,234,331,360,382,408,413,420,439,516,523,532],"characterize":[19],"genetic":[20,143,396,494],"sequence":[21,39,135,149,397],"variants":[22,144,161,212,230,240,253,297],"in":[23,27,127,173,188,214,266,288,298,310,507,520],"lipid/sterol":[24,37,299],"related":[25,164,300],"genes":[26,264,301,377],"children":[28,76],"affected":[29],"with":[30,62,259,281,286,401],"ASD":[31,50,64,282,287,322,357,379,417,435,462,491,539],"investigate":[33],"the":[34,83,115,128,133,139,147,153,192,215,292,325,333,336,339,350,361,371,422,425,440,469,481,497,503,518,521,524,534],"association":[35,315,337,351,372],"gene":[38],"variation":[40],"neurodevelopmental":[42,93,102,166,260,342,366],"phenotype":[43],"that":[44,130,276,295],"could":[45],"identify":[46],"new":[47,383,432,443,455,484],"etiologies":[48],"for":[49,123,327,389,449,461,490,505],"eventually":[52],"aid":[53],"focus":[55],"intervention":[56],"strategies.":[57],"Design":[58],"methods":[60],"Children":[61],"confirmed":[63],"were":[65,95,163,181,203,206,284],"recruited":[66],"from":[67,146,225,232,242,502],"a":[68,304,465],"regional":[69],"academic":[70],"health":[71],"center.":[72],"Participants":[73],"included":[74],"24":[75],"(20":[77],"male":[78],"4":[80],"female)":[81],"ages":[84],"of":[85,101,138,141,179,211,217,220,251,307,344,364,395,416,431,442,454,471,473,483,496,537],"40":[86],"81":[88],"months":[89],"('M'=60":[90],"months).":[91],"Several":[92],"measures":[94],"administered":[96],"which":[97,180,410],"provided":[98],"an":[99,221,314],"assessment":[100],"functional":[103],"status.":[104],"applied":[106],"our":[107],"exome":[108],"sequencing":[109],"workflow":[110],"perform":[112],"alignment":[113],"Human":[116],"Reference":[117],"Sequence":[118],"(build":[119],"37)":[120],"base":[121,125],"calling":[122],"every":[124],"pair":[126],"reads":[129],"align":[131],"reference":[134,148],"QC":[136],"evaluation":[137],"annotation":[140],"all":[142],"different":[145],"using":[150],"dbSNP":[151,190],"1000":[154,193],"Genomes":[155,194],"databases.":[156],"investigated":[158],"whether":[159],"novel":[160,229,384,444,456,485],"identified":[162],"functioning.":[167],"Results":[168,312],"conclusions":[170],"Variants":[171],"occurred":[172],"355":[174,200],"total":[175,209,249],"genomic":[176],"positions,":[177],"53":[178],"not":[182],"previously":[183],"annotated":[184],"as":[185],"variant":[186,196],"positions":[187],"either":[189],"or":[191],"Project\u05f3s":[195],"annotation.":[197],"Of":[198],"these":[199],"variants,":[201],"169":[202],"nonsynonymous":[204,239,252,296],"(31":[205],"novel).":[207],"The":[208,248,429,452,526],"number":[210,250,394],"observed":[213,426],"exons":[216],"captured":[218],"regions":[219],"individual":[222],"participant":[223],"ranged":[224,231,241],"88":[226],"117;":[228],"four":[233],"10":[235],"per":[236,246,254],"participant,":[237],"while":[238],"36":[243],"51":[245],"participant.":[247],"subject":[255],"was":[256],"significantly":[257],"associated":[258,285,400,535],"function.":[261],"Further,":[262],"several":[263],"involved":[265],"including":[271],"NPC1,":[272],"DHCR24":[273],"others":[275],"when":[277],"mutated":[278],"cause":[279],"diseases":[280],"characteristics,":[283],"Network":[289],"analysis.":[290],"Altogether,":[291],"findings":[293],"suggest":[294,324],"may":[302,380,437],"be":[303,514],"biological":[305],"marker":[306],"neurodevelopment":[308],"status":[309],"ASD.":[311,345,390,402,450,477],"support":[313,501,528],"need":[326],"further":[328],"research":[329,404,519],"attempting":[330],"elucidate":[332,421],"mechanisms":[334,423],"behind":[335,424],"etiology":[340],"effects":[343],"Focal":[346],"points":[347],"\u2022Bedside":[348],"Understanding":[349],"genetics":[353],"will":[358,463,513],"contribute":[359,412],"scientific":[362],"understanding":[363],"complex":[365],"disorders.":[367],"Continued":[368],"study":[369],"into":[370],"lead":[381,438],"effective":[386,446,458,487],"treatment":[387,447,459,488],"options":[388,448,460,489],"\u2022Benchside":[391],"A":[392],"large":[393],"variations":[398],"are":[399],"Additional":[403],"is":[405],"still":[406],"needed":[407],"determine":[409],"associations":[411],"various":[414],"subtypes":[415,436],"presentations,":[418],"association.":[427],"\u2022Industry":[428],"discovery":[430],"genetically":[433],"influenced":[434],"development":[441,453,482],"\u2022Community":[451],"have":[464],"great":[466],"impact":[467],"on":[468,493],"quality":[470],"life":[472],"those":[474],"impacted":[475],"by":[476],"\u2022Regulatory":[478],"agencies":[479],"Since":[480],"based":[492],"substrates":[495],"condition":[498],"needs":[499],"extensive":[500],"authorities":[504],"success":[506],"clinical":[508],"translation,":[509],"ongoing":[510],"financial":[511],"investments":[512],"necessary":[515],"translate":[517],"lab":[522],"bedside.":[525],"governmental":[527],"can":[529],"also":[530],"help":[531],"minimize":[533],"costs":[536],"treating":[538],"overtime.":[540]},"counts_by_year":[{"year":2023,"cited_by_count":1},{"year":2021,"cited_by_count":1}],"updated_date":"2026-10-16T09:59:22.235173","created_date":"2016-06-24T00:00:00"}