{"id":"https://openalex.org/W2008588945","doi":"https://doi.org/10.1210/jc.2008-0981","title":"Association Studies of Common Variants in 10 Hypogonadotropic Hypogonadism Genes with Age at Menarche","display_name":"Association Studies of Common Variants in 10 Hypogonadotropic Hypogonadism Genes with Age at Menarche","publication_year":2008,"publication_date":"2008-08-27","ids":{"openalex":"https://openalex.org/W2008588945","doi":"https://doi.org/10.1210/jc.2008-0981","mag":"2008588945","pmid":"https://pubmed.ncbi.nlm.nih.gov/18728166","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/2582573"},"language":"en","primary_location":{"id":"doi:10.1210/jc.2008-0981","doi":"https://doi.org/10.1210/jc.2008-0981","is_oa":true,"landing_page_url":"https://doi.org/10.1210/jc.2008-0981","pdf_url":"https://academic.oup.com/jcem/article-pdf/93/11/4290/9053274/jcem4290.pdf","source":{"id":"https://openalex.org/S205775358","display_name":"The Journal of Clinical Endocrinology & Metabolism","issn_l":"0021-972X","issn":["0021-972X","1945-7197"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Journal of Clinical Endocrinology &amp; Metabolism","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://academic.oup.com/jcem/article-pdf/93/11/4290/9053274/jcem4290.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5063027600","display_name":"Zofia K. Z. Gajdos","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"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/I4210162629","display_name":"Children's Hospital","ror":"https://ror.org/0511k4970","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210162629"]}],"countries":["TN","US"],"is_corresponding":false,"raw_author_name":"Zofia K. Z. Gajdos","raw_affiliation_strings":["Department of Genetics (Z.K.Z.G., A.P., D.R., J.N.H.), Harvard Medical School","Program in Genomics and Division of Endocrinology (Z.K.Z.G., J.L.B., M.E., J.N.H.), Children\u2019s Hospital","Program in Medical and Population Genetics (Z.K.Z.G., J.L.B., A.P., D.R., J.N.H.), Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics (Z.K.Z.G., A.P., D.R., J.N.H.), Harvard Medical School","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Program in Genomics and Division of Endocrinology (Z.K.Z.G., J.L.B., M.E., J.N.H.), Children\u2019s Hospital","institution_ids":["https://openalex.org/I4210162629"]},{"raw_affiliation_string":"Program in Medical and Population Genetics (Z.K.Z.G., J.L.B., A.P., D.R., J.N.H.), Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113594788","display_name":"Johannah L. Butler","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I4210162629","display_name":"Children's Hospital","ror":"https://ror.org/0511k4970","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210162629"]}],"countries":["TN","US"],"is_corresponding":false,"raw_author_name":"Johannah L. Butler","raw_affiliation_strings":["Program in Genomics and Division of Endocrinology (Z.K.Z.G., J.L.B., M.E., J.N.H.), Children\u2019s Hospital","Program in Medical and Population Genetics (Z.K.Z.G., J.L.B., A.P., D.R., J.N.H.), Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Program in Genomics and Division of Endocrinology (Z.K.Z.G., J.L.B., M.E., J.N.H.), Children\u2019s Hospital","institution_ids":["https://openalex.org/I4210162629"]},{"raw_affiliation_string":"Program in Medical and Population Genetics (Z.K.Z.G., J.L.B., A.P., D.R., J.N.H.), Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103586832","display_name":"Katherine DeLellis Henderson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1301076528","display_name":"City Of Hope National Medical Center","ror":"https://ror.org/00w6g5w60","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1301076528"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Katherine DeLellis Henderson","raw_affiliation_strings":["Division of Population Sciences, Department of Cancer Etiology (K.D.H.), City of Hope National Medical Center, Duarte, CA 91010"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Population Sciences, Department of Cancer Etiology (K.D.H.), City of Hope National Medical Center, Duarte, CA 91010","institution_ids":["https://openalex.org/I1301076528"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023120961","display_name":"Chunyan He","orcid":"https://orcid.org/0000-0001-9443-4368","observed_orcids":["https://orcid.org/0000-0001-9443-4368","https://orcid.org/0000-0003-0231-3599"]},"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"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Chunyan He","raw_affiliation_strings":["Program in Molecular and Genetic Epidemiology (C.H., D.J.H.), Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts 02115"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Program in Molecular and Genetic Epidemiology (C.H., D.J.H.), Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts 02115","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079629767","display_name":"Pamela J. Supelak","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799343972","display_name":"University Hospitals of Cleveland","ror":"https://ror.org/0130jk839","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799343972"]},{"id":"https://openalex.org/I4210151235","display_name":"Rainbow Babies & Children's Hospital","ror":"https://ror.org/04x495f64","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799343972","https://openalex.org/I4210151235"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Pamela J. Supelak","raw_affiliation_strings":["Departments of Pediatrics and Genetics (P.J.S., M.R.P.), Rainbow Babies and Children\u2019s Hospital, University Hospitals of Cleveland, Cleveland, Ohio 44106"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pediatrics and Genetics (P.J.S., M.R.P.), Rainbow Babies and Children\u2019s Hospital, University Hospitals of Cleveland, Cleveland, Ohio 44106","institution_ids":["https://openalex.org/I2799343972","https://openalex.org/I4210151235"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091597917","display_name":"Matthew Egyud","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210162629","display_name":"Children's Hospital","ror":"https://ror.org/0511k4970","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210162629"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Matthew Egyud","raw_affiliation_strings":["Program in Genomics and Division of Endocrinology (Z.K.Z.G., J.L.B., M.E., J.N.H.), Children\u2019s Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Program in Genomics and Division of Endocrinology (Z.K.Z.G., J.L.B., M.E., J.N.H.), Children\u2019s Hospital","institution_ids":["https://openalex.org/I4210162629"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066797582","display_name":"Alkes L. Price","orcid":"https://orcid.org/0000-0002-2971-7975","observed_orcids":["https://orcid.org/0000-0002-2971-7975"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alkes Price","raw_affiliation_strings":["Department of Genetics (Z.K.Z.G., A.P., D.R., J.N.H.), Harvard Medical School","Program in Medical and Population Genetics (Z.K.Z.G., J.L.B., A.P., D.R., J.N.H.), Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics (Z.K.Z.G., A.P., D.R., J.N.H.), Harvard Medical School","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Program in Medical and Population Genetics (Z.K.Z.G., J.L.B., A.P., D.R., J.N.H.), Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011819951","display_name":"David Reich","orcid":"https://orcid.org/0000-0002-7037-5292","observed_orcids":["https://orcid.org/0000-0002-7037-5292"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"David Reich","raw_affiliation_strings":["Department of Genetics (Z.K.Z.G., A.P., D.R., J.N.H.), Harvard Medical School","Program in Medical and Population Genetics (Z.K.Z.G., J.L.B., A.P., D.R., J.N.H.), Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics (Z.K.Z.G., A.P., D.R., J.N.H.), Harvard Medical School","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Program in Medical and Population Genetics (Z.K.Z.G., J.L.B., A.P., D.R., J.N.H.), Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032176497","display_name":"Peter Clayton","orcid":"https://orcid.org/0000-0003-1225-4537","observed_orcids":["https://orcid.org/0000-0003-1225-4537","https://orcid.org/0000-0001-7592-4302"]},"institutions":[{"id":"https://openalex.org/I28407311","display_name":"University of Manchester","ror":"https://ror.org/027m9bs27","country_code":"GB","type":"education","lineage":["https://openalex.org/I28407311"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Peter E. Clayton","raw_affiliation_strings":["Endocrine Science Research Group (P.E.C.), Faculty of Medical and Human Sciences, University of Manchester, Manchester M13 9PT, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Endocrine Science Research Group (P.E.C.), Faculty of Medical and Human Sciences, University of Manchester, Manchester M13 9PT, United Kingdom","institution_ids":["https://openalex.org/I28407311"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053074659","display_name":"Lo\u0131\u0308c Le Marchand","orcid":"https://orcid.org/0000-0001-5013-980X","observed_orcids":["https://orcid.org/0000-0001-5013-980X"]},"institutions":[{"id":"https://openalex.org/I117965899","display_name":"University of Hawai\u02bbi at M\u0101noa","ror":"https://ror.org/01wspgy28","country_code":"US","type":"education","lineage":["https://openalex.org/I117965899"]},{"id":"https://openalex.org/I1331384533","display_name":"University of Hawaii System","ror":"https://ror.org/03tzaeb71","country_code":"US","type":"education","lineage":["https://openalex.org/I1331384533"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Loic Le Marchand","raw_affiliation_strings":["Epidemiology Program (L.L.M.), Cancer Research Center of Hawaii, University of Hawaii, Honolulu, Hawaii 96813"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Epidemiology Program (L.L.M.), Cancer Research Center of Hawaii, University of Hawaii, Honolulu, Hawaii 96813","institution_ids":["https://openalex.org/I117965899","https://openalex.org/I1331384533"]}]},{"author_position":"middle","author":{"id":null,"display_name":"David J. Hunter","orcid":null,"observed_orcids":[]},"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"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"David J. Hunter","raw_affiliation_strings":["Program in Molecular and Genetic Epidemiology (C.H., D.J.H.), Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts 02115"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Program in Molecular and Genetic Epidemiology (C.H., D.J.H.), Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts 02115","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111890042","display_name":"Brian E. Henderson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1174212","display_name":"University of Southern California","ror":"https://ror.org/03taz7m60","country_code":"US","type":"education","lineage":["https://openalex.org/I1174212"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Brian E. Henderson","raw_affiliation_strings":["Department of Preventive Medicine (B.E.H.), Keck School of Medicine, University of Southern California, Los Angeles, California 90089"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Preventive Medicine (B.E.H.), Keck School of Medicine, University of Southern California, Los Angeles, California 90089","institution_ids":["https://openalex.org/I1174212"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000806901","display_name":"Mark R. Palmert","orcid":"https://orcid.org/0000-0002-4096-0685","observed_orcids":["https://orcid.org/0000-0002-4096-0685"]},"institutions":[{"id":"https://openalex.org/I2799343972","display_name":"University Hospitals of Cleveland","ror":"https://ror.org/0130jk839","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799343972"]},{"id":"https://openalex.org/I4210151235","display_name":"Rainbow Babies & Children's Hospital","ror":"https://ror.org/04x495f64","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799343972","https://openalex.org/I4210151235"]},{"id":"https://openalex.org/I58956616","display_name":"Case Western Reserve University","ror":"https://ror.org/051fd9666","country_code":"US","type":"education","lineage":["https://openalex.org/I58956616"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mark R. Palmert","raw_affiliation_strings":["Case School of Medicine, and Division of Pediatric Endocrinology and Metabolism (M.R.P.), Rainbow Babies and Children\u2019s Hospital, University Hospitals of Cleveland, Cleveland, Ohio 44106","Departments of Pediatrics and Genetics (P.J.S., M.R.P.), Rainbow Babies and Children\u2019s Hospital, University Hospitals of Cleveland, Cleveland, Ohio 44106"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Case School of Medicine, and Division of Pediatric Endocrinology and Metabolism (M.R.P.), Rainbow Babies and Children\u2019s Hospital, University Hospitals of Cleveland, Cleveland, Ohio 44106","institution_ids":["https://openalex.org/I2799343972","https://openalex.org/I4210151235","https://openalex.org/I58956616"]},{"raw_affiliation_string":"Departments of Pediatrics and Genetics (P.J.S., M.R.P.), Rainbow Babies and Children\u2019s Hospital, University Hospitals of Cleveland, Cleveland, Ohio 44106","institution_ids":["https://openalex.org/I2799343972","https://openalex.org/I4210151235"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5001552586","display_name":"Joel N. Hirschhorn","orcid":"https://orcid.org/0000-0002-1650-7901","observed_orcids":["https://orcid.org/0000-0002-1650-7901"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"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/I4210162629","display_name":"Children's Hospital","ror":"https://ror.org/0511k4970","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210162629"]}],"countries":["TN","US"],"is_corresponding":true,"raw_author_name":"Joel N. Hirschhorn","raw_affiliation_strings":["Department of Genetics (Z.K.Z.G., A.P., D.R., J.N.H.), Harvard Medical School","Program in Genomics and Division of Endocrinology (Z.K.Z.G., J.L.B., M.E., J.N.H.), Children\u2019s Hospital","Program in Medical and Population Genetics (Z.K.Z.G., J.L.B., A.P., D.R., J.N.H.), Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics (Z.K.Z.G., A.P., D.R., J.N.H.), Harvard Medical School","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Program in Genomics and Division of Endocrinology (Z.K.Z.G., J.L.B., M.E., J.N.H.), Children\u2019s Hospital","institution_ids":["https://openalex.org/I4210162629"]},{"raw_affiliation_string":"Program in Medical and Population Genetics (Z.K.Z.G., J.L.B., A.P., D.R., J.N.H.), Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142","institution_ids":["https://openalex.org/I107606265"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":11,"corresponding_author_ids":["https://openalex.org/A5001552586"],"corresponding_institution_ids":["https://openalex.org/I107606265","https://openalex.org/I136199984","https://openalex.org/I4210162629"],"apc_list":{"value":3750,"currency":"USD","value_usd":3750},"apc_paid":null,"fwci":8.5127,"has_fulltext":true,"cited_by_count":52,"citation_normalized_percentile":{"value":0.97502743,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"93","issue":"11","first_page":"4290","last_page":"4298"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10960","display_name":"Hypothalamic control of reproductive hormones","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2743","display_name":"Reproductive Medicine"},"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/T10960","display_name":"Hypothalamic control of reproductive hormones","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2743","display_name":"Reproductive Medicine"},"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/T10261","display_name":"Genetic Associations and Epidemiology","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/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","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"}}],"keywords":[{"id":"https://openalex.org/keywords/hypogonadotropic-hypogonadism","display_name":"hypogonadotropic hypogonadism","score":0.968999981880188},{"id":"https://openalex.org/keywords/age-at-menarche","display_name":"age at menarche","score":0.9959999918937683},{"id":"https://openalex.org/keywords/pubertal-timing","display_name":"pubertal timing","score":0.9869999885559082},{"id":"https://openalex.org/keywords/common-genetic-variants","display_name":"common genetic variants","score":0.8610000014305115},{"id":"https://openalex.org/keywords/genetic-ancestry","display_name":"genetic ancestry","score":0.6690000295639038},{"id":"https://openalex.org/keywords/delayed-puberty","display_name":"delayed puberty","score":0.6650000214576721},{"id":"https://openalex.org/keywords/mutation","display_name":"genetic mutations","score":0.3100000023841858},{"id":"https://openalex.org/keywords/women","display_name":"women","score":0.335999995470047},{"id":"https://openalex.org/keywords/multiethnic-cohort","display_name":"multi-ethnic cohort","score":0.8479999899864197}],"concepts":[{"id":"https://openalex.org/C4258228","wikidata":"https://www.wikidata.org/wiki/Q492514","display_name":"Menarche","level":2,"score":0.8743830919265747},{"id":"https://openalex.org/C2781255401","wikidata":"https://www.wikidata.org/wiki/Q1641332","display_name":"Hypogonadotropic hypogonadism","level":3,"score":0.5735951662063599},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.5641017556190491},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5372920036315918},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5207809805870056},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.4980442523956299},{"id":"https://openalex.org/C2777767895","wikidata":"https://www.wikidata.org/wiki/Q4691924","display_name":"Age of onset","level":3,"score":0.4863329529762268},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.4547745883464813},{"id":"https://openalex.org/C149923435","wikidata":"https://www.wikidata.org/wiki/Q37732","display_name":"Demography","level":1,"score":0.4091241955757141},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.36988991498947144},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.36000508069992065},{"id":"https://openalex.org/C42407357","wikidata":"https://www.wikidata.org/wiki/Q521","display_name":"Physiology","level":1,"score":0.34484970569610596},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.27524521946907043},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.26978224515914917},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2628915309906006},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2603657841682434},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.2021421492099762},{"id":"https://openalex.org/C71315377","wikidata":"https://www.wikidata.org/wiki/Q11364","display_name":"Hormone","level":2,"score":0.05746468901634216},{"id":"https://openalex.org/C144024400","wikidata":"https://www.wikidata.org/wiki/Q21201","display_name":"Sociology","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000367","descriptor_name":"Age Factors","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":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006254","descriptor_name":"Hawaii","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":"D007006","descriptor_name":"Hypogonadism","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008572","descriptor_name":"Menarche","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011627","descriptor_name":"Puberty","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011628","descriptor_name":"Puberty, Delayed","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011795","descriptor_name":"Surveys and Questionnaires","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011966","descriptor_name":"Receptors, LHRH","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015141","descriptor_name":"Los Angeles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015992","descriptor_name":"Body Mass Index","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044469","descriptor_name":"Racial Groups","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051496","descriptor_name":"Receptor, Fibroblast Growth Factor, Type 1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1210/jc.2008-0981","doi":"https://doi.org/10.1210/jc.2008-0981","is_oa":true,"landing_page_url":"https://doi.org/10.1210/jc.2008-0981","pdf_url":"https://academic.oup.com/jcem/article-pdf/93/11/4290/9053274/jcem4290.pdf","source":{"id":"https://openalex.org/S205775358","display_name":"The Journal of Clinical Endocrinology & Metabolism","issn_l":"0021-972X","issn":["0021-972X","1945-7197"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Journal of Clinical Endocrinology &amp; Metabolism","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:2582573","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2582573","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":"J Clin Endocrinol Metab","raw_type":"Text"},{"id":"pmid:18728166","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18728166","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":"The Journal of clinical endocrinology and metabolism","raw_type":"Journal Article"},{"id":"pmh:oai:pure.atira.dk:openaire_cris_publications/805302cf-657b-43e9-b33e-f0ad02f89df2","doi":null,"is_oa":false,"landing_page_url":"https://research.manchester.ac.uk/en/publications/805302cf-657b-43e9-b33e-f0ad02f89df2","pdf_url":null,"source":{"id":"https://openalex.org/S4306400662","display_name":"Research Explorer (The University of Manchester)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I28407311","host_organization_name":"University of Manchester","host_organization_lineage":["https://openalex.org/I28407311"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Gajdos, Z K Z, Butler, J L, Henderson, K D, He, C, Supelak, P J, Egyud, M, Price, A, Reich, D, Clayton, P E, Le Marchand, L, Hunter, D J, Henderson, B E, Palmert, M R & Hirschhorn, J N 2008, 'Association studies of common variants in 10 hypogonadotropic hypogonadism genes with age at menarche', Journal of Clinical Endocrinology and Metabolism, vol. 93, no. 11, pp. 4290-4298. https://doi.org/10.1210/jc.2008-0981","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1210/jc.2008-0981","doi":"https://doi.org/10.1210/jc.2008-0981","is_oa":true,"landing_page_url":"https://doi.org/10.1210/jc.2008-0981","pdf_url":"https://academic.oup.com/jcem/article-pdf/93/11/4290/9053274/jcem4290.pdf","source":{"id":"https://openalex.org/S205775358","display_name":"The Journal of Clinical Endocrinology & Metabolism","issn_l":"0021-972X","issn":["0021-972X","1945-7197"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Journal of Clinical Endocrinology &amp; Metabolism","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G1534672829","display_name":"General Clinical Research Center","funder_award_id":"M01RR000080","funder_id":"https://openalex.org/F4320337375","funder_display_name":"National Center for Research Resources"},{"id":"https://openalex.org/G2034429546","display_name":null,"funder_award_id":"RR 002172","funder_id":"https://openalex.org/F4320337375","funder_display_name":"National Center for Research Resources"},{"id":"https://openalex.org/G5524335007","display_name":"General Clinical Research Center","funder_award_id":"M01RR002172","funder_id":"https://openalex.org/F4320337375","funder_display_name":"National Center for Research Resources"},{"id":"https://openalex.org/G611481922","display_name":null,"funder_award_id":"RR 00080","funder_id":"https://openalex.org/F4320337375","funder_display_name":"National Center for Research Resources"},{"id":"https://openalex.org/G6805535177","display_name":"Genetic factors that regulate the onset of puberty","funder_award_id":"R01HD048960","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G6971993728","display_name":null,"funder_award_id":"CA54821","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G8596008389","display_name":"Intellectual and Developmental Disablities Research Center","funder_award_id":"P30HD018655","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"}],"funders":[{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"},{"id":"https://openalex.org/F4320337375","display_name":"National Center for Research Resources","ror":"https://ror.org/04pw6fb54"},{"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":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2008588945.pdf","grobid_xml":"https://content.openalex.org/works/W2008588945.grobid-xml"},"referenced_works_count":54,"referenced_works":["https://openalex.org/W51155872","https://openalex.org/W1517074150","https://openalex.org/W1980175560","https://openalex.org/W1982380837","https://openalex.org/W1985818849","https://openalex.org/W1988926089","https://openalex.org/W1991987899","https://openalex.org/W1999580437","https://openalex.org/W2003282533","https://openalex.org/W2004666849","https://openalex.org/W2006423274","https://openalex.org/W2007736302","https://openalex.org/W2011495105","https://openalex.org/W2012515461","https://openalex.org/W2014343152","https://openalex.org/W2018207400","https://openalex.org/W2023050095","https://openalex.org/W2026221332","https://openalex.org/W2034939744","https://openalex.org/W2040516688","https://openalex.org/W2044243983","https://openalex.org/W2059297225","https://openalex.org/W2066669827","https://openalex.org/W2068053473","https://openalex.org/W2069434480","https://openalex.org/W2075946095","https://openalex.org/W2081315095","https://openalex.org/W2092419417","https://openalex.org/W2092580777","https://openalex.org/W2098126593","https://openalex.org/W2098939608","https://openalex.org/W2102022353","https://openalex.org/W2107661454","https://openalex.org/W2108214367","https://openalex.org/W2110065044","https://openalex.org/W2114355681","https://openalex.org/W2118800814","https://openalex.org/W2120024256","https://openalex.org/W2129212144","https://openalex.org/W2140882931","https://openalex.org/W2144924200","https://openalex.org/W2152664025","https://openalex.org/W2153589742","https://openalex.org/W2155155854","https://openalex.org/W2155635136","https://openalex.org/W2158185741","https://openalex.org/W2158489424","https://openalex.org/W2161633633","https://openalex.org/W2167202831","https://openalex.org/W2169205603","https://openalex.org/W2217809488","https://openalex.org/W2411145462","https://openalex.org/W2412711379","https://openalex.org/W2417483066"],"related_works":["https://openalex.org/W1982917689","https://openalex.org/W4253366267","https://openalex.org/W4392737706","https://openalex.org/W2103019860","https://openalex.org/W3020911143","https://openalex.org/W2019900446","https://openalex.org/W4387362519","https://openalex.org/W4402465626","https://openalex.org/W4400887226","https://openalex.org/W2347074080"],"abstract_inverted_index":{"CONTEXT:":[0],"Although":[1],"the":[2,15,22,69,89,120,131,142,148,161,179,204,246,253],"timing":[3,20],"of":[4,35,163,178,193,197,248],"puberty":[5,39,55],"is":[6,12],"a":[7,53,242],"highly":[8],"heritable":[9],"trait,":[10],"little":[11],"known":[13],"about":[14],"genes":[16,26,51,65,84],"that":[17,59,232],"regulate":[18],"pubertal":[19,73,135],"in":[21,49,63,72,81,85,107,130,134,213,245,252],"general":[23,143,254],"population.":[24,255],"Several":[25],"have":[27],"been":[28],"identified":[29],"that,":[30],"when":[31],"mutated,":[32],"cause":[33,52],"disorders":[34],"delayed":[36],"or":[37,101,196],"absent":[38],"such":[40],"as":[41],"hypogonadotropic":[42],"hypogonadism":[43],"(HH).":[44],"OBJECTIVE:":[45],"Because":[46],"severe":[47,54],"variants":[48,180,195,199,234],"HH-related":[50,83,237],"phenotype,":[56],"we":[57,117,187,216],"hypothesized":[58],"common":[60,78,115,233],"subtle":[61],"variation":[62,71,80,133,165],"these":[64,114,194],"could":[66],"contribute":[67],"to":[68,113,126],"population":[70,132],"timing.":[74,136],"DESIGN:":[75],"We":[76,159,171],"assessed":[77,160],"genetic":[79,164,222],"10":[82,236],"1801":[86,145],"women":[87,146],"from":[88,147,203],"Hawaii":[90,149],"and":[91,106,150,182,224],"Los":[92,151],"Angeles":[93,152],"Multiethnic":[94,153],"Cohort":[95,154],"with":[96,166],"either":[97],"early":[98],"(age<11":[99],"yr)":[100,104],"late":[102],"(age>14":[103],"menarche":[105,251],"other":[108,198],"replication":[109],"samples.":[110],"In":[111,207],"addition":[112],"variants,":[116],"also":[118],"studied":[119],"most":[121],"frequently":[122],"reported":[123],"HH":[124],"mutations":[125],"assess":[127],"their":[128],"role":[129,244],"SETTING":[137],"AND":[138],"PATIENTS/OTHER":[139],"PARTICIPANTS:":[140],"Within":[141],"community,":[144],"participated.":[155],"MAIN":[156],"OUTCOME":[157],"MEASURES:":[158],"association":[162,175,219],"age":[167,183,225,249],"at":[168,184,200,226,250],"menarche.":[169,227],"RESULTS:":[170],"found":[172],"no":[173],"significant":[174],"between":[176,220],"any":[177],"tested":[181],"menarche,":[185],"although":[186],"cannot":[188],"rule":[189],"out":[190],"modest":[191],"effects":[192],"long":[201],"distances":[202],"coding":[205],"region.":[206],"several":[208],"self-reported":[209],"racial/ethnic":[210],"groups":[211],"represented":[212],"our":[214],"study,":[215],"observed":[217],"an":[218],"estimated":[221],"ancestry":[223],"CONCLUSIONS:":[228],"Our":[229],"results":[230],"suggest":[231],"near":[235],"loci":[238],"do":[239],"not":[240],"play":[241],"substantial":[243],"regulation":[247]},"counts_by_year":[{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":7},{"year":2013,"cited_by_count":5},{"year":2012,"cited_by_count":6}],"updated_date":"2026-11-01T11:40:01.658920","created_date":"2016-06-24T00:00:00"}