{"id":"https://openalex.org/W2117342187","doi":"https://doi.org/10.1002/(sici)1096-8628(19990402)83:4<286::aid-ajmg10>3.0.co;2-h","title":"Genotype, molecular phenotype, and cognitive phenotype: Correlations in fragile X syndrome","display_name":"Genotype, molecular phenotype, and cognitive phenotype: Correlations in fragile X syndrome","publication_year":1999,"publication_date":"1999-04-02","ids":{"openalex":"https://openalex.org/W2117342187","doi":"https://doi.org/10.1002/(sici)1096-8628(19990402)83:4<286::aid-ajmg10>3.0.co;2-h","mag":"2117342187","pmid":"https://pubmed.ncbi.nlm.nih.gov/10208163"},"language":"en","primary_location":{"id":"doi:10.1002/(sici)1096-8628(19990402)83:4<286::aid-ajmg10>3.0.co;2-h","doi":"https://doi.org/10.1002/(sici)1096-8628(19990402)83:4<286::aid-ajmg10>3.0.co;2-h","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1096-8628(19990402)83:4<286::aid-ajmg10>3.0.co;2-h","pdf_url":null,"source":{"id":"https://openalex.org/S4210224978","display_name":"American Journal of Medical Genetics","issn_l":"0148-7299","issn":["0148-7299","1096-8628"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1"],"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":"American Journal of Medical Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"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/A5101601374","display_name":"Walter E. Kaufmann","orcid":"https://orcid.org/0000-0002-8561-8453","observed_orcids":["https://orcid.org/0000-0002-8561-8453"]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I2799853436","display_name":"Johns Hopkins Medicine","ror":"https://ror.org/037zgn354","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799853436"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Walter E. Kaufmann","raw_affiliation_strings":["Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland","Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland","Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland","Departments of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"]},{"raw_affiliation_string":"Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland","institution_ids":["https://openalex.org/I145311948"]},{"raw_affiliation_string":"Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"]},{"raw_affiliation_string":"Departments of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112794717","display_name":"Michael T. Abrams","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1298154867","display_name":"Kennedy Krieger Institute","ror":"https://ror.org/05q6tgt32","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I1298154867"]},{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I2799853436","display_name":"Johns Hopkins Medicine","ror":"https://ror.org/037zgn354","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799853436"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michael T. Abrams","raw_affiliation_strings":["Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland","Kennedy Krieger Institute, Baltimore, Maryland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"]},{"raw_affiliation_string":"Kennedy Krieger Institute, Baltimore, Maryland","institution_ids":["https://openalex.org/I1298154867"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071045516","display_name":"Wilma Chen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I2799853436","display_name":"Johns Hopkins Medicine","ror":"https://ror.org/037zgn354","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799853436"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Wilma Chen","raw_affiliation_strings":["Departments of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5046688401","display_name":"Allan L. Reiss","orcid":"https://orcid.org/0000-0002-1979-4942","observed_orcids":["https://orcid.org/0000-0002-1979-4942"]},"institutions":[{"id":"https://openalex.org/I4210137306","display_name":"Stanford Medicine","ror":"https://ror.org/03mtd9a03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210137306","https://openalex.org/I97018004"]},{"id":"https://openalex.org/I97018004","display_name":"Stanford University","ror":"https://ror.org/00f54p054","country_code":"US","type":"education","lineage":["https://openalex.org/I97018004"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Allan L. Reiss","raw_affiliation_strings":["Division of Child and Adolescent Psychiatry and Child Development, Departments of Psychiatry and Pediatrics, Stanford University School of Medicine, Stanford, California"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Child and Adolescent Psychiatry and Child Development, Departments of Psychiatry and Pediatrics, Stanford University School of Medicine, Stanford, California","institution_ids":["https://openalex.org/I4210137306","https://openalex.org/I97018004"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5101601374"],"corresponding_institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"],"apc_list":null,"apc_paid":null,"fwci":4.0496,"has_fulltext":false,"cited_by_count":134,"citation_normalized_percentile":{"value":0.94251831,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":93,"max":99},"biblio":{"volume":"83","issue":"4","first_page":"286","last_page":"295"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":1.0,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":1.0,"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/T13258","display_name":"Williams Syndrome Research","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2806","display_name":"Developmental 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/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/fragile-x-syndrome","display_name":"fragile X syndrome","score":1.0},{"id":"https://openalex.org/keywords/fmr1","display_name":"FMR1 gene","score":0.8920000195503235},{"id":"https://openalex.org/keywords/fmrp","display_name":"FMRP","score":0.8410000205039978},{"id":"https://openalex.org/keywords/fmr1-premutation","display_name":"fragile X premutation","score":0.7649999856948853},{"id":"https://openalex.org/keywords/full-mutation","display_name":"full mutation","score":0.7850000262260437},{"id":"https://openalex.org/keywords/iq","display_name":"IQ","score":0.44600000977516174},{"id":"https://openalex.org/keywords/cognitive-phenotypes","display_name":"cognitive phenotypes","score":0.7620000243186951},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.7110000252723694},{"id":"https://openalex.org/keywords/peripheral-blood-leukocytes","display_name":"peripheral blood leukocytes","score":0.753000020980835},{"id":"https://openalex.org/keywords/immunoblot-assay","display_name":"immunoblot assay","score":0.6940000057220459},{"id":"https://openalex.org/keywords/sex-differences","display_name":"sex differences","score":0.46299999952316284}],"concepts":[{"id":"https://openalex.org/C2779063550","wikidata":"https://www.wikidata.org/wiki/Q905435","display_name":"FMR1","level":4,"score":0.9579780697822571},{"id":"https://openalex.org/C2777630245","wikidata":"https://www.wikidata.org/wiki/Q221472","display_name":"Fragile X syndrome","level":2,"score":0.9357806444168091},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.7127512693405151},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.6599829792976379},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.6216238737106323},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6115049719810486},{"id":"https://openalex.org/C3020422209","wikidata":"https://www.wikidata.org/wiki/Q221472","display_name":"Fragile x","level":3,"score":0.5365766286849976},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.504044234752655},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4785485863685608},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4343542158603668}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000882","descriptor_name":"Haplorhini","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003071","descriptor_name":"Cognition","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005600","descriptor_name":"Fragile X Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005600","descriptor_name":"Fragile X Syndrome","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D005600","descriptor_name":"Fragile X Syndrome","qualifier_ui":"Q000523","qualifier_name":"psychology","is_major_topic":true},{"descriptor_ui":"D005838","descriptor_name":"Genotype","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":"D007361","descriptor_name":"Intelligence Tests","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009419","descriptor_name":"Nerve Tissue Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009419","descriptor_name":"Nerve Tissue Proteins","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":true},{"descriptor_ui":"D009419","descriptor_name":"Nerve Tissue Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015151","descriptor_name":"Immunoblotting","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016601","descriptor_name":"RNA-Binding Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D051860","descriptor_name":"Fragile X Messenger Ribonucleoprotein 1","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1002/(sici)1096-8628(19990402)83:4<286::aid-ajmg10>3.0.co;2-h","doi":"https://doi.org/10.1002/(sici)1096-8628(19990402)83:4<286::aid-ajmg10>3.0.co;2-h","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1096-8628(19990402)83:4<286::aid-ajmg10>3.0.co;2-h","pdf_url":null,"source":{"id":"https://openalex.org/S4210224978","display_name":"American Journal of Medical Genetics","issn_l":"0148-7299","issn":["0148-7299","1096-8628"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1"],"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":"American Journal of Medical Genetics","raw_type":"journal-article"},{"id":"doi:10.1002/(sici)1096-8628(19990402)83:4<286::aid-ajmg10>3.3.co;2-8","doi":"https://doi.org/10.1002/(sici)1096-8628(19990402)83:4<286::aid-ajmg10>3.3.co;2-8","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1096-8628(19990402)83:4<286::aid-ajmg10>3.3.co;2-8","pdf_url":null,"source":{"id":"https://openalex.org/S4210224978","display_name":"American Journal of Medical Genetics","issn_l":"0148-7299","issn":["0148-7299","1096-8628"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1"],"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":"American Journal of Medical Genetics","raw_type":"journal-article"},{"id":"pmid:10208163","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10208163","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 medical genetics","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9476000070571899}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G3016495783","display_name":null,"funder_award_id":"HD024061","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G3293162334","display_name":null,"funder_award_id":"MH-50047","funder_id":"https://openalex.org/F4320337346","funder_display_name":"National Institute of Mental Health"},{"id":"https://openalex.org/G5779482540","display_name":"Mental Retardation and Developmental Disabilities Research Centers 2008","funder_award_id":"P30HD024061","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G5824905338","display_name":null,"funder_award_id":"MH 00142","funder_id":"https://openalex.org/F4320337346","funder_display_name":"National Institute of Mental Health"},{"id":"https://openalex.org/G6224230127","display_name":"Developmental trajectory of anxiety, avoidance, and arousal in girls with the FMR1 full mutation","funder_award_id":"R01MH050047","funder_id":"https://openalex.org/F4320337346","funder_display_name":"National Institute of Mental Health"}],"funders":[{"id":"https://openalex.org/F4320337346","display_name":"National Institute of Mental Health","ror":"https://ror.org/04xeg9z08"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":44,"referenced_works":["https://openalex.org/W146111145","https://openalex.org/W1511922211","https://openalex.org/W1564811764","https://openalex.org/W1568074043","https://openalex.org/W1573910699","https://openalex.org/W1574448204","https://openalex.org/W1683691009","https://openalex.org/W1816168801","https://openalex.org/W1941644192","https://openalex.org/W1973198154","https://openalex.org/W1977088106","https://openalex.org/W1978236923","https://openalex.org/W1983474825","https://openalex.org/W1983479763","https://openalex.org/W1986709138","https://openalex.org/W1997975229","https://openalex.org/W2002780348","https://openalex.org/W2016738749","https://openalex.org/W2040118711","https://openalex.org/W2040306383","https://openalex.org/W2042348622","https://openalex.org/W2046004724","https://openalex.org/W2048218525","https://openalex.org/W2051013729","https://openalex.org/W2063127778","https://openalex.org/W2073551648","https://openalex.org/W2075344525","https://openalex.org/W2081652906","https://openalex.org/W2090302910","https://openalex.org/W2091926916","https://openalex.org/W2104680403","https://openalex.org/W2111354983","https://openalex.org/W2119787118","https://openalex.org/W2132943956","https://openalex.org/W2138074651","https://openalex.org/W2138444505","https://openalex.org/W2139424308","https://openalex.org/W2146803093","https://openalex.org/W2149919973","https://openalex.org/W2161946113","https://openalex.org/W2164912917","https://openalex.org/W2167119720","https://openalex.org/W2326122757","https://openalex.org/W2403040731"],"related_works":["https://openalex.org/W2040306383","https://openalex.org/W2625971920","https://openalex.org/W2018241432","https://openalex.org/W4393098719","https://openalex.org/W2998545185","https://openalex.org/W3203830385","https://openalex.org/W138363953","https://openalex.org/W4403142373","https://openalex.org/W2120930005","https://openalex.org/W2004772569"],"abstract_inverted_index":{"The":[0,85],"study":[1,87],"of":[2,6,8,33,52,62,68,107,126,195,206,223,248,251,261,271],"the":[3,10,31,35,63,80,149,155,167,207,221,249],"neurobehavioral":[4],"consequences":[5],"mutations":[7,253],"FMR1,":[9],"gene":[11,37],"responsible":[12],"for":[13,220],"fragile":[14],"X":[15],"syndrome":[16],"(FraX),":[17],"has":[18],"been":[19,48],"based":[20],"largely":[21],"on":[22,57],"correlations":[23,40],"between":[24,41],"mutation":[25,83],"patterns":[26,125],"and":[27,44,65,94,137,179,193,209,231],"cognitive":[28,66],"profile.":[29],"Following":[30],"characterization":[32],"FMRP,":[34],"FMR1":[36,81,108,252],"product,":[38],"preliminary":[39],"FMRP":[42,92,127],"levels,":[43],"neurologic":[45,255],"phenotype":[46],"have":[47,55],"established.":[49],"However,":[50],"most":[51,146,270],"these":[53],"investigations":[54],"focused":[56],"individuals":[58],"at":[59],"both":[60,228],"ends":[61],"genetic":[64],"spectra":[67],"FraX,":[69],"subjects":[70],"with":[71,79,98,132,148,158,166,186,191,198,203,266],"normal":[72,133],"or":[73,77],"premutation":[74],"(PM)":[75],"alleles":[76,142],"males":[78,265],"full":[82],"(FM).":[84],"present":[86],"is":[88],"designed":[89],"to":[90,95,236],"characterize":[91],"expression":[93],"correlate":[96],"it":[97],"IQ,":[99],"in":[100,263],"a":[101,104,115,174,201],"sample":[102],"representing":[103],"wide":[105],"spectrum":[106],"mutations.":[109],"For":[110],"this":[111],"purpose":[112],"we":[113],"developed":[114],"highly":[116],"sensitive":[117],"immunoblotting":[118],"assay":[119],"using":[120],"peripheral":[121],"leukocytes.":[122],"Three":[123],"distinct":[124],"immunoreactivity":[128],"(-ir)":[129],"emerged.":[130],"Individuals":[131],"(n":[134,139,151,169],"=":[135,140,152,170],"28)":[136],"PM":[138],"8)":[141],"as":[143,145,245],"well":[144],"females":[147,197],"FM":[150,168,199,267],"14)":[153],"showed":[154],"highest":[156,208],"levels":[157,183],"multiple":[159],"approximately":[160],"70-80":[161],"kDa":[162,176],"FMRP-ir":[163,177,213,232,242,262],"bands.":[164,214],"Males":[165,190],"10)":[171],"demonstrated":[172],"only":[173],"70":[175],"band,":[178],"had":[180],"significantly":[181,234],"lower":[182],"when":[184],"compared":[185],"any":[187],"previous":[188],"groups.":[189],"mosaicism":[192],"three":[194],"14":[196],"displayed":[200],"doublet":[202],"equal":[204],"amounts":[205],"lowest":[210],"molecular":[211],"weight":[212],"Multiple":[215],"regression":[216],"models":[217],"that":[218,227,241,269],"adjust":[219],"effect":[222],"parental":[224],"IQ":[225],"indicated":[226],"activation":[229],"ratio":[230],"are":[233,273],"correlated":[235],"subject":[237],"IQ.":[238],"We":[239],"conclude":[240],"offers":[243],"promise":[244],"an":[246],"indicator":[247],"impact":[250],"upon":[254],"function.":[256],"Furthermore,":[257],"our":[258],"unexpected":[259],"finding":[260],"all":[264],"suggests":[268],"them":[272],"not":[274],"transcriptionally":[275],"silent.":[276]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":5},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":7},{"year":2020,"cited_by_count":6},{"year":2019,"cited_by_count":5},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":7},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":6},{"year":2014,"cited_by_count":5},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":7}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}