{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T22:05:16Z","timestamp":1789509916357,"version":"build-2803163510"},"reference-count":41,"publisher":"Oxford University Press (OUP)","license":[{"start":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T00:00:00Z","timestamp":1787616000000},"content-version":"am","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["T32DK007028"],"award-info":[{"award-number":["T32DK007028"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000041","name":"American Diabetes Association","doi-asserted-by":"publisher","award":["11-23-PDF-35"],"award-info":[{"award-number":["11-23-PDF-35"]}],"id":[{"id":"10.13039\/100000041","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["U01HG011723"],"award-info":[{"award-number":["U01HG011723"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["R01DK137993"],"award-info":[{"award-number":["R01DK137993"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["R01DK140545"],"award-info":[{"award-number":["R01DK140545"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["U01DK140757"],"award-info":[{"award-number":["U01DK140757"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005297","name":"Medical University of Bialystok","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005297","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004569","name":"Ministry of Science and Higher Education","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004569","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000041","name":"American Diabetes Association","doi-asserted-by":"publisher","award":["11-22-ICTSPM-16"],"award-info":[{"award-number":["11-22-ICTSPM-16"]}],"id":[{"id":"10.13039\/100000041","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009708","name":"Novo Nordisk Foundation","doi-asserted-by":"publisher","award":["NNF21SA0072102"],"award-info":[{"award-number":["NNF21SA0072102"]}],"id":[{"id":"10.13039\/501100009708","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["U54DK118612"],"award-info":[{"award-number":["U54DK118612"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000862","name":"Doris Duke Foundation","doi-asserted-by":"publisher","award":["2022063"],"award-info":[{"award-number":["2022063"]}],"id":[{"id":"10.13039\/100000862","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Familial hypocalciuric hypercalcemia type 1 (FHH1), caused by inactivating CASR variants, is characterized by lifelong hypercalcemia and hypocalciuria and should be distinguished from primary hyperparathyroidism as their management differs substantially. Prior reports suggest additional clinical associations (eg, pancreatitis, altered glucose metabolism), but epidemiological evidence is limited. Using a genotype-first analysis of UK Biobank (UKB) whole-exome\/whole-genome sequencing data linked to health records, we estimated the prevalence of FHH1 and characterized its degree of hypercalcemia and clinical associations. Candidate variants were identified from the CASRdb database, which aggregates CASR variants reported in the literature and ClinVar\/LOVD, and were supplemented with additional predicted high-impact variants. Variants were classified as FHH1-associated if designated in ClinVar as pathogenic\/likely pathogenic (P\/LP) or, for non-P\/LP variants, determined to have high probability of causing FHH1 based on criteria that considered variant type, allele frequency, and carrier serum calcium. We compared serum biochemistry with the remaining UKB population and performed PheWAS across ICD-10 diagnoses. Among 454\u2009787 exomes\/490\u2009640 genomes, we identified 162 individuals carrying FHH1-associated variants (33.0\/100\u2009000). Mean serum calcium was higher in FHH1 than in the remaining UKB population (10.4\u2009\u00b1\u20090.6 vs 9.5\u2009\u00b1\u20090.4\u00a0mg\/dL; p\u2009=\u20091.2\u2009\u00d7\u200910\u221272) but overlapped from approximately 9.2-9.4\u00a0mg\/dL upward. PheWAS signals were dominated by calcium\/parathyroid-related traits; pancreatitis- or diabetes-related outcomes did not meet multiple-testing-corrected significance thresholds. Serum phosphorus was modestly lower in FHH1 individuals (3.3\u2009\u00b1\u20090.5 vs 3.6\u2009\u00b1\u20090.5\u00a0mg\/dL; p\u2009=\u20096.7\u2009\u00d7\u200910\u221217). To estimate FHH1 prevalence based on allele frequency, we used gnomAD v4.1 and found that the prevalence (SE) was 31.2(2.0)\/100\u2009000 overall and varied by ancestry, ranging from 46.6(12.5)\/100\u2009000 in the Admixed American group to 13.5(9.6)\/100\u2009000 in the Ashkenazi Jewish group. Taken together, these data indicate that FHH1 is more common than previously appreciated and is characterized by variable degrees of hypercalcemia and modest hypophosphatemia, although biochemical characterization was limited by unavailable urinary calcium and PTH data.<\/jats:p>","DOI":"10.1093\/jbmr\/zjag129","type":"journal-article","created":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T11:35:24Z","timestamp":1787657724000},"source":"Crossref","is-referenced-by-count":0,"title":["Genotype-first characterization of familial hypocalciuric hypercalcemia type 1: prevalence, serum calcium, and clinical associations"],"prefix":"10.1093","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6501-6180","authenticated-orcid":false,"given":"Nipith","family":"Charoenngam","sequence":"first","affiliation":[{"name":"Endocrine Unit, Massachusetts General Hospital, Harvard Medical School , Boston, MA 0 2114,","place":["United States"]},{"name":"Department of Medicine, Harvard Medical School , Boston, MA 02115 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6218-3904","authenticated-orcid":false,"given":"Alicia","family":"Huerta-Chagoya","sequence":"additional","affiliation":[{"name":"Programs in Metabolism and Medical and Population Genetics, Broad Institute of MIT and Harvard , Cambridge 02142, MA ,","place":["United States"]},{"name":"Center for Genomic Medicine, Massachusetts General Hospital , Boston, MA 02114 ,","place":["United States"]},{"name":"Diabetes Unit, Massachusetts General Hospital , Boston, MA 02114 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9823-9711","authenticated-orcid":false,"given":"Sarah","family":"Hsu","sequence":"additional","affiliation":[{"name":"Programs in Metabolism and Medical and Population Genetics, Broad Institute of MIT and Harvard , Cambridge 02142, MA ,","place":["United States"]},{"name":"Center for Genomic Medicine, Massachusetts General Hospital , Boston, MA 02114 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maheak","family":"Vora","sequence":"additional","affiliation":[{"name":"Programs in Metabolism and Medical and Population Genetics, Broad Institute of MIT and Harvard , Cambridge 02142, MA ,","place":["United States"]},{"name":"Center for Genomic Medicine, Massachusetts General Hospital , Boston, MA 02114 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8494-3660","authenticated-orcid":false,"given":"Josep M","family":"Mercader","sequence":"additional","affiliation":[{"name":"Department of Medicine, Harvard Medical School , Boston, MA 02115 ,","place":["United States"]},{"name":"Programs in Metabolism and Medical and Population Genetics, Broad Institute of MIT and Harvard , Cambridge 02142, MA ,","place":["United States"]},{"name":"Center for Genomic Medicine, Massachusetts General Hospital , Boston, MA 02114 ,","place":["United States"]},{"name":"Diabetes Unit, Massachusetts General Hospital , Boston, MA 02114 ,","place":["United States"]},{"name":"Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard , Cambridge, MA 02142 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3824-9162","authenticated-orcid":false,"given":"Miriam S","family":"Udler","sequence":"additional","affiliation":[{"name":"Department of Medicine, Harvard Medical School , Boston, MA 02115 ,","place":["United States"]},{"name":"Programs in Metabolism and Medical and Population Genetics, Broad Institute of MIT and Harvard , Cambridge 02142, MA ,","place":["United States"]},{"name":"Center for Genomic Medicine, Massachusetts General Hospital , Boston, MA 02114 ,","place":["United States"]},{"name":"Diabetes Unit, Massachusetts General Hospital , Boston, MA 02114 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0867-9778","authenticated-orcid":false,"given":"Michael","family":"Mannstadt","sequence":"additional","affiliation":[{"name":"Endocrine Unit, Massachusetts General Hospital, Harvard Medical School , Boston, MA 0 2114,","place":["United States"]},{"name":"Department of Medicine, Harvard Medical School , Boston, MA 02115 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,8,25]]},"reference":[{"issue":"1","key":"2026091518012260000_ref1","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1038\/s41574-018-0115-0","article-title":"The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases","volume":"15","author":"Hannan","year":"2018","journal-title":"Nat Rev Endocrinol"},{"issue":"1","key":"2026091518012260000_ref2","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1152\/physrev.2001.81.1.239","article-title":"Extracellular calcium sensing and extracellular calcium signaling","volume":"81","author":"Brown","year":"2001","journal-title":"Physiol Rev"},{"issue":"5","key":"2026091518012260000_ref3","doi-asserted-by":"publisher","first-page":"609","DOI":"10.1016\/j.beem.2018.05.004","article-title":"Familial hypocalciuric hypercalcemia and related disorders","volume":"32","author":"Lee","year":"2018","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"issue":"12","key":"2026091518012260000_ref4","doi-asserted-by":"publisher","first-page":"2615","DOI":"10.1002\/jbmr.4667","article-title":"Hypoparathyroidism: genetics and diagnosis","volume":"37","author":"Mannstadt","year":"2022","journal-title":"J Bone Miner Res"},{"issue":"6","key":"2026091518012260000_ref5","doi-asserted-by":"publisher","first-page":"907","DOI":"10.1002\/jbmr.4803","article-title":"GNA11 variants identified in patients with hypercalcemia or hypocalcemia","volume":"38","author":"Howles","year":"2023","journal-title":"J Bone Miner Res"},{"issue":"1","key":"2026091518012260000_ref6","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1038\/ng.2492","article-title":"Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3","volume":"45","author":"Nesbit","year":"2013","journal-title":"Nat Genet"},{"issue":"9","key":"2026091518012260000_ref7","doi-asserted-by":"publisher","first-page":"878","DOI":"10.1001\/jamasurg.2017.1721","article-title":"Indications for surgical management of hyperparathyroidism: a review","volume":"152","author":"Stephen","year":"2017","journal-title":"JAMA Surg"},{"issue":"5","key":"2026091518012260000_ref8","doi-asserted-by":"publisher","first-page":"2185","DOI":"10.1210\/jc.2015-3442","article-title":"Familial hypocalciuric hypercalcemia types 1 and 3 and primary hyperparathyroidism: similarities and differences","volume":"101","author":"Vargas-Poussou","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"issue":"4","key":"2026091518012260000_ref9","doi-asserted-by":"publisher","first-page":"216","DOI":"10.1007\/s002230001201","article-title":"The prevalence of familial hypocalciuric hypercalcemia","volume":"68","author":"Hinnie","year":"2001","journal-title":"Calcif Tissue Int"},{"issue":"6","key":"2026091518012260000_ref10","doi-asserted-by":"publisher","first-page":"734","DOI":"10.1016\/j.ajhg.2020.04.006","article-title":"Familial hypocalciuric hypercalcemia type 1 and autosomal-dominant hypocalcemia type 1: prevalence in a large healthcare population","volume":"106","author":"Dershem","year":"2020","journal-title":"Am J Hum Genet"},{"issue":"6","key":"2026091518012260000_ref11","doi-asserted-by":"publisher","first-page":"708","DOI":"10.1016\/j.jbspin.2009.02.001","article-title":"Familial hypocalciuric hypercalcemia revealed by chondrocalcinosis","volume":"76","author":"Volpe","year":"2009","journal-title":"Joint Bone Spine"},{"issue":"6","key":"2026091518012260000_ref12","doi-asserted-by":"publisher","first-page":"996","DOI":"10.1097\/MPA.0000000000000361","article-title":"Overrepresentation of rare CASR coding variants in a sample of young French patients with idiopathic chronic pancreatitis","volume":"44","author":"Masson","year":"2015","journal-title":"Pancreas."},{"issue":"4","key":"2026091518012260000_ref13","doi-asserted-by":"publisher","first-page":"66","DOI":"10.55729\/2000-9666.1497","article-title":"A rare case of familial hypocalciuric hypercalcemia in patient with pancreatitis","volume":"15","author":"Khan","year":"2025","journal-title":"J Community Hosp Intern Med Perspect"},{"key":"2026091518012260000_ref14","doi-asserted-by":"publisher","first-page":"140050","DOI":"10.1530\/EDM-14-0050","article-title":"Recurrent pancreatitis in a patient with familial hypocalciuric hypercalcaemia treated successfully with cinacalcet","volume":"2014","author":"Gunganah","year":"2014","journal-title":"Endocrinol Diabetes Metab Case Rep"},{"issue":"8","key":"2026091518012260000_ref15","doi-asserted-by":"publisher","first-page":"2486","DOI":"10.1210\/en.2017-00111","article-title":"Mutant mice with calcium-sensing receptor activation have hyperglycemia that is rectified by calcilytic therapy","volume":"158","author":"Babinsky","year":"2017","journal-title":"Endocrinology."},{"issue":"2","key":"2026091518012260000_ref16","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1210\/clinem\/dgae769","article-title":"CASRdb: a publicly accessible comprehensive database for disease-associated calcium-sensing receptor variants","volume":"110","author":"Charoenngam","year":"2025","journal-title":"J Clin Endocrinol Metab"},{"issue":"7726","key":"2026091518012260000_ref17","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1038\/s41586-018-0579-z","article-title":"The UK Biobank resource with deep phenotyping and genomic data","volume":"562","author":"Bycroft","year":"2018","journal-title":"Nature."},{"issue":"7809","key":"2026091518012260000_ref18","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature."},{"key":"2026091518012260000_ref19"},{"issue":"7886","key":"2026091518012260000_ref20","doi-asserted-by":"publisher","first-page":"628","DOI":"10.1038\/s41586-021-04103-z","article-title":"Exome sequencing and analysis of 454,787 UK Biobank participants","volume":"599","author":"Backman","year":"2021","journal-title":"Nature."},{"issue":"D1","key":"2026091518012260000_ref21","doi-asserted-by":"publisher","first-page":"D1062","DOI":"10.1093\/nar\/gkx1153","article-title":"ClinVar: improving access to variant interpretations and supporting evidence","volume":"46","author":"Landrum","year":"2018","journal-title":"Nucleic Acids Res"},{"issue":"5","key":"2026091518012260000_ref22","doi-asserted-by":"publisher","first-page":"557","DOI":"10.1002\/humu.21438","article-title":"LOVD v.2.0: the next generation in gene variant databases","volume":"32","author":"Fokkema","year":"2011","journal-title":"Hum Mutat"},{"issue":"2","key":"2026091518012260000_ref23","doi-asserted-by":"publisher","first-page":"80","DOI":"10.4161\/fly.19695","article-title":"A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3","volume":"6","author":"Cingolani","year":"2012","journal-title":"Fly (Austin)"},{"issue":"5","key":"2026091518012260000_ref24","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"issue":"19","key":"2026091518012260000_ref25","doi-asserted-by":"publisher","first-page":"1737","DOI":"10.1056\/NEJMoa2102953","article-title":"New creatinine- and cystatin C\u2013based equations to estimate GFR without race","volume":"385","author":"Inker Lesley","year":"2021","journal-title":"N Engl J Med"},{"issue":"6664","key":"2026091518012260000_ref26","doi-asserted-by":"publisher","first-page":"eadg7492","DOI":"10.1126\/science.adg7492","article-title":"Accurate proteome-wide missense variant effect prediction with AlphaMissense","volume":"381","author":"Cheng","year":"2023","journal-title":"Science"},{"issue":"1","key":"2026091518012260000_ref27","doi-asserted-by":"publisher","first-page":"e2455251-e","DOI":"10.1001\/jamanetworkopen.2024.55251","article-title":"Use of albumin-adjusted calcium measurements in clinical practice","volume":"8","author":"Desgagn\u00e9s","year":"2025","journal-title":"JAMA Netw Open"},{"issue":"1","key":"2026091518012260000_ref28","doi-asserted-by":"publisher","first-page":"12","DOI":"10.21037\/gs-21-577","article-title":"Novel mutations of the calcium-sensing receptor impede differential diagnosis of primary hyperparathyroidism and familial hypocalciuric hypercalcemia","volume":"11","author":"Bhangu","year":"2022","journal-title":"Gland Surg"},{"issue":"5","key":"2026091518012260000_ref29","doi-asserted-by":"publisher","first-page":"1372","DOI":"10.1002\/hed.25568","article-title":"Efficacy of calcium excretion and calcium\/creatinine clearance ratio in the differential diagnosis of familial hypocalciuric hypercalcemia and primary hyperparathyroidism","volume":"41","author":"Bhangu","year":"2019","journal-title":"Head Neck"},{"issue":"8","key":"2026091518012260000_ref30","doi-asserted-by":"publisher","first-page":"2879","DOI":"10.1210\/jc.2017-02407","article-title":"Homozygous calcium-sensing receptor polymorphism R544Q presents as hypocalcemic hypoparathyroidism","volume":"103","author":"Cavaco","year":"2018","journal-title":"J Clin Endocrinol Metab"},{"issue":"12","key":"2026091518012260000_ref31","doi-asserted-by":"publisher","first-page":"4797","DOI":"10.1210\/jc.2008-1076","article-title":"Novel inactivating mutations of the calcium-sensing receptor: the calcimimetic NPS R-568 improves signal transduction of mutant receptors","volume":"93","author":"Rus","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"issue":"6319","key":"2026091518012260000_ref32","doi-asserted-by":"publisher","first-page":"aaf6814","DOI":"10.1126\/science.aaf6814","article-title":"Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study","volume":"354","author":"Dewey","year":"2016","journal-title":"Science."},{"issue":"9","key":"2026091518012260000_ref33","doi-asserted-by":"publisher","first-page":"1026","DOI":"10.1093\/aje\/kwx246","article-title":"Comparison of sociodemographic and health-related characteristics of UK Biobank participants with those of the general population","volume":"186","author":"Fry","year":"2017","journal-title":"Am J Epidemiol"},{"issue":"2","key":"2026091518012260000_ref34","doi-asserted-by":"publisher","first-page":"264","DOI":"10.1210\/endrev\/bnaf040","article-title":"Calcium-sensing receptor regulation of gastrointestinal hormone secretion","volume":"47","author":"Anjom-Shoae","year":"2026","journal-title":"Endocr Rev"},{"issue":"22","key":"2026091518012260000_ref35","doi-asserted-by":"publisher","first-page":"4158","DOI":"10.1016\/j.febslet.2014.05.007","article-title":"Epithelial CaSR deficiency alters intestinal integrity and promotes proinflammatory immune responses","volume":"588","author":"Cheng","year":"2014","journal-title":"FEBS Lett"},{"key":"2026091518012260000_ref36","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1016\/j.semcdb.2015.10.040","article-title":"The role of the calcium-sensing receptor in gastrointestinal inflammation","volume":"49","author":"Owen","year":"2016","journal-title":"Semin Cell Dev Biol"},{"issue":"24","key":"2026091518012260000_ref37","doi-asserted-by":"publisher","first-page":"4362","DOI":"10.3390\/nu16244362","article-title":"Targeting the calcium-sensing receptor in chemically induced medium-grade colitis in female BALB\/C mice","volume":"16","author":"Piatek","year":"2024","journal-title":"Nutrients."},{"issue":"5","key":"2026091518012260000_ref38","doi-asserted-by":"publisher","first-page":"833","DOI":"10.1007\/s00424-024-02927-y","article-title":"A novel mouse model for familial hypocalciuric hypercalcemia (FHH1) reveals PTH-dependent and independent CaSR defects","volume":"476","author":"K\u00fcng","year":"2024","journal-title":"Pflugers Arch"},{"key":"2026091518012260000_ref39","doi-asserted-by":"publisher","first-page":"2025","DOI":"10.3389\/fendo.2025.1503128","article-title":"Case report: familial hypocalciuric hypercalcemia type 1 with a novel mutation combined with Gitelman syndrome and a review of the literature","volume":"Volume 16","author":"He","year":"2025","journal-title":"Front Endocrinol"},{"issue":"8003","key":"2026091518012260000_ref40","doi-asserted-by":"publisher","first-page":"340","DOI":"10.1038\/s41586-023-06957-x","article-title":"Genomic data in the All of Us Research Program","volume":"627","author":"Bick","year":"2024","journal-title":"Nature."},{"issue":"11","key":"2026091518012260000_ref41","doi-asserted-by":"publisher","first-page":"2345","DOI":"10.1038\/s41588-024-01930-4","article-title":"Yield of genetic association signals from genomes, exomes and imputation in the UK Biobank","volume":"56","author":"Gaynor","year":"2024","journal-title":"Nat Genet"}],"container-title":["Journal of Bone and Mineral Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jbmr\/advance-article-pdf\/doi\/10.1093\/jbmr\/zjag129\/70786622\/zjag129.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jbmr\/advance-article-pdf\/doi\/10.1093\/jbmr\/zjag129\/70786622\/zjag129.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T22:01:29Z","timestamp":1789509689000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jbmr\/advance-article\/doi\/10.1093\/jbmr\/zjag129\/8770617"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,25]]},"references-count":41,"URL":"https:\/\/doi.org\/10.1093\/jbmr\/zjag129","relation":{},"ISSN":["0884-0431","1523-4681"],"issn-type":[{"value":"0884-0431","type":"print"},{"value":"1523-4681","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8,25]]},"article-number":"zjag129"}}