{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T08:24:29Z","timestamp":1792571069178,"version":"4.5.0"},"reference-count":55,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2023,1,24]],"date-time":"2023-01-24T00:00:00Z","timestamp":1674518400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,1,24]],"date-time":"2023-01-24T00:00:00Z","timestamp":1674518400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/100000901","name":"Juvenile Diabetes Research Foundation International","doi-asserted-by":"publisher","award":["1-INO-2019-789-S"],"award-info":[{"award-number":["1-INO-2019-789-S"]}],"id":[{"id":"10.13039\/100000901","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Diabetologia"],"published-print":{"date-parts":[[2023,4]]},"DOI":"10.1007\/s00125-022-05865-5","type":"journal-article","created":{"date-parts":[[2023,1,24]],"date-time":"2023-01-24T13:16:40Z","timestamp":1674566200000},"page":"695-708","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Genetic determinants of type 1 diabetes in individuals with weak evidence of islet autoimmunity at disease onset"],"prefix":"10.1007","volume":"66","author":[{"given":"Paola","family":"Carrera","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria","family":"Marzinotto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riccardo","family":"Bonfanti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Massimino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Calzavara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u039cariagrazia","family":"Favellato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatiana","family":"Jofra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"De Giglio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clara","family":"Bonura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Stabilini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Favalli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Bondesan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Pia","family":"Cicalese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Laurenzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amelia","family":"Caretto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulio","family":"Frontino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Rigamonti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Molinari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Scavini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Sandullo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ettore","family":"Zapparoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicoletta","family":"Caridi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Bonfiglio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Castorani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Ungaro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Petrelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graziano","family":"Barera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Aiuti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuele","family":"Bosi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Battaglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Piemonti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vito","family":"Lampasona","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7745-7517","authenticated-orcid":false,"given":"Georgia","family":"Fousteri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,1,24]]},"reference":[{"issue":"1","key":"5865_CR1","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1152\/physrev.00003.2010","volume":"91","author":"TL Van Belle","year":"2011","unstructured":"Van Belle TL, Coppieters KT, Von Herrath MG (2011) Type 1 diabetes: etiology, immunology, and therapeutic strategies. Physiol Rev 91(1):79\u2013118. https:\/\/doi.org\/10.1152\/physrev.00003.2010","journal-title":"Physiol Rev"},{"issue":"9911","key":"5865_CR2","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1016\/S0140-6736(13)60591-7","volume":"383","author":"MA Atkinson","year":"2014","unstructured":"Atkinson MA, Eisenbarth GS, Michels AW (2014) Type 1 diabetes. Lancet 383(9911):69\u201382. https:\/\/doi.org\/10.1016\/S0140-6736(13)60591-7","journal-title":"Lancet"},{"issue":"23","key":"5865_CR3","doi-asserted-by":"publisher","first-page":"2473","DOI":"10.1001\/jama.2013.6285","volume":"309","author":"AG Ziegler","year":"2013","unstructured":"Ziegler AG, Rewers M, Simell O et al (2013) Seroconversion to multiple islet autoantibodies and risk of progression to diabetes in children. JAMA 309(23):2473\u20132479. https:\/\/doi.org\/10.1001\/jama.2013.6285","journal-title":"JAMA"},{"issue":"5","key":"5865_CR4","doi-asserted-by":"publisher","first-page":"808","DOI":"10.2337\/dc14-2426","volume":"38","author":"AK Steck","year":"2015","unstructured":"Steck AK, Vehik K, Bonifacio E et al (2015) Predictors of progression from the appearance of islet autoantibodies to early childhood diabetes: The Environmental Determinants of Diabetes in the Young (TEDDY). Diabetes Care 38(5):808\u2013813. https:\/\/doi.org\/10.2337\/dc14-2426","journal-title":"Diabetes Care"},{"issue":"6","key":"5865_CR5","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1007\/s11892-016-0738-2","volume":"16","author":"V Lampasona","year":"2016","unstructured":"Lampasona V, Liberati D (2016) Islet autoantibodies. Curr Diab Rep 16(6):53. https:\/\/doi.org\/10.1007\/s11892-016-0738-2","journal-title":"Curr Diab Rep"},{"issue":"6","key":"5865_CR6","doi-asserted-by":"publisher","first-page":"1690","DOI":"10.2337\/db15-1058","volume":"65","author":"KA McLaughlin","year":"2016","unstructured":"McLaughlin KA, Richardson CC, Ravishankar A et al (2016) Identification of tetraspanin-7 as a target of autoantibodies in type 1 diabetes. Diabetes 65(6):1690\u20131698. https:\/\/doi.org\/10.2337\/db15-1058","journal-title":"Diabetes"},{"issue":"Suppl 27","key":"5865_CR7","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1111\/pedi.12773","volume":"19","author":"EJ Mayer-Davis","year":"2018","unstructured":"Mayer-Davis EJ, Kahkoska AR, Jefferies C et al (2018) ISPAD Clinical Practice Consensus Guidelines 2018: Definition, epidemiology, and classification of diabetes in children and adolescents. Pediatr Diabetes 19(Suppl 27):7\u201319. https:\/\/doi.org\/10.1111\/pedi.12773","journal-title":"Pediatr Diabetes"},{"issue":"Suppl 27","key":"5865_CR8","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1111\/pedi.12734","volume":"19","author":"JJ Couper","year":"2018","unstructured":"Couper JJ, Haller MJ, Greenbaum CJ et al (2018) ISPAD Clinical Practice Consensus Guidelines 2018: Stages of type 1 diabetes in children and adolescents. Pediatr Diabetes 19(Suppl 27):20\u201327. https:\/\/doi.org\/10.1111\/pedi.12734","journal-title":"Pediatr Diabetes"},{"issue":"3 Pt 1","key":"5865_CR9","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1111\/j.1399-5448.2010.00681.x","volume":"12","author":"S Hameed","year":"2011","unstructured":"Hameed S, Ellard S, Woodhead HJ et al (2011) Persistently autoantibody negative (PAN) type 1 diabetes mellitus in children. Pediatr Diabetes 12(3 Pt 1):142\u2013149. https:\/\/doi.org\/10.1111\/j.1399-5448.2010.00681.x","journal-title":"Pediatr Diabetes"},{"issue":"1","key":"5865_CR10","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1210\/jc.2006-1494","volume":"92","author":"J Wang","year":"2007","unstructured":"Wang J, Miao D, Babu S et al (2007) Prevalence of autoantibody-negative diabetes is not rare at all ages and increases with older age and obesity. J Clin Endocrinol Metab 92(1):88\u201392. https:\/\/doi.org\/10.1210\/jc.2006-1494","journal-title":"J Clin Endocrinol Metab"},{"issue":"Suppl 27","key":"5865_CR11","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1111\/pedi.12772","volume":"19","author":"AT Hattersley","year":"2018","unstructured":"Hattersley AT, Greeley SAW, Polak M et al (2018) ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes 19(Suppl 27):47\u201363. https:\/\/doi.org\/10.1111\/pedi.12772","journal-title":"Pediatr Diabetes"},{"issue":"12","key":"5865_CR12","doi-asserted-by":"publisher","first-page":"3117","DOI":"10.2337\/dci20-0065","volume":"43","author":"MC Riddle","year":"2020","unstructured":"Riddle MC, Philipson LH, Rich SS et al (2020) Monogenic diabetes: from genetic insights to population-based precision in care. Reflections From a Diabetes Care Editors\u2019 Expert Forum. Diabetes Care 43(12):3117\u20133128. https:\/\/doi.org\/10.2337\/dci20-0065","journal-title":"Diabetes Care"},{"issue":"9","key":"5865_CR13","doi-asserted-by":"publisher","first-page":"1671","DOI":"10.1007\/s00125-020-05181-w","volume":"63","author":"WK Chung","year":"2020","unstructured":"Chung WK, Erion K, Florez JC et al (2020) Precision medicine in diabetes: a Consensus Report from the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD). Diabetologia 63(9):1671\u20131693. https:\/\/doi.org\/10.1007\/s00125-020-05181-w","journal-title":"Diabetologia"},{"issue":"1","key":"5865_CR14","doi-asserted-by":"publisher","first-page":"121","DOI":"10.2337\/db19-0510","volume":"69","author":"M Li","year":"2020","unstructured":"Li M, Wang S, Xu K et al (2020) High prevalence of a monogenic cause in Han Chinese diagnosed with type 1 diabetes, partly driven by nonsyndromic recessive WFS1 mutations. Diabetes 69(1):121\u2013126. https:\/\/doi.org\/10.2337\/db19-0510","journal-title":"Diabetes"},{"issue":"1","key":"5865_CR15","doi-asserted-by":"publisher","first-page":"123","DOI":"10.2337\/dc08-0783","volume":"32","author":"R Bonfanti","year":"2009","unstructured":"Bonfanti R, Colombo C, Nocerino V et al (2009) Insulin gene mutations as cause of diabetes in children negative for five type 1 diabetes autoantibodies. Diabetes Care 32(1):123\u2013125. https:\/\/doi.org\/10.2337\/dc08-0783","journal-title":"Diabetes Care"},{"issue":"4","key":"5865_CR16","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1016\/j.beem.2018.06.008","volume":"32","author":"F Barbetti","year":"2018","unstructured":"Barbetti F, D\u2019Annunzio G (2018) Genetic causes and treatment of neonatal diabetes and early childhood diabetes. Best Pract Res Clin Endocrinol Metab 32(4):575\u2013591. https:\/\/doi.org\/10.1016\/j.beem.2018.06.008","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"issue":"8","key":"5865_CR17","doi-asserted-by":"publisher","first-page":"2316","DOI":"10.2337\/db17-0040","volume":"66","author":"MB Johnson","year":"2017","unstructured":"Johnson MB, De Franco E, Lango Allen H et al (2017) Recessively inherited LRBA mutations cause autoimmunity presenting as neonatal diabetes. Diabetes 66(8):2316\u20132322. https:\/\/doi.org\/10.2337\/db17-0040","journal-title":"Diabetes"},{"issue":"8","key":"5865_CR18","doi-asserted-by":"publisher","first-page":"812","DOI":"10.1038\/ng.3040","volume":"46","author":"SE Flanagan","year":"2014","unstructured":"Flanagan SE, Haapaniemi E, Russell MA et al (2014) Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. Nat Genet 46(8):812\u2013814. https:\/\/doi.org\/10.1038\/ng.3040","journal-title":"Nat Genet"},{"issue":"5","key":"5865_CR19","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1136\/jmedgenet-2012-100759","volume":"49","author":"E d\u2019Hennezel","year":"2012","unstructured":"d\u2019Hennezel E, Bin Dhuban K, Torgerson T, Piccirillo C (2012) The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. J Med Genet 49(5):291\u2013302. https:\/\/doi.org\/10.1136\/jmedgenet-2012-100759","journal-title":"J Med Genet"},{"issue":"6","key":"5865_CR20","doi-asserted-by":"publisher","first-page":"1932","DOI":"10.1016\/j.jaci.2018.02.055","volume":"142","author":"C Schwab","year":"2018","unstructured":"Schwab C, Gabrysch A, Olbrich P et al (2018) Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects. J Allergy Clin Immunol 142(6):1932\u20131946. https:\/\/doi.org\/10.1016\/j.jaci.2018.02.055","journal-title":"J Allergy Clin Immunol"},{"key":"5865_CR21","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1016\/j.coi.2017.10.003","volume":"49","author":"I Proekt","year":"2017","unstructured":"Proekt I, Miller CN, Lionakis MS, Anderson MS (2017) Insights into immune tolerance from AIRE deficiency. Curr Opin Immunol 49:71\u201378. https:\/\/doi.org\/10.1016\/j.coi.2017.10.003","journal-title":"Curr Opin Immunol"},{"issue":"2","key":"5865_CR22","doi-asserted-by":"publisher","first-page":"258","DOI":"10.2337\/db18-0627","volume":"68","author":"M Fabbri","year":"2019","unstructured":"Fabbri M, Frixou M, Degano M, Fousteri G (2019) Type 1 diabetes in STAT protein family mutations: regulating the Th17\/Treg equilibrium and beyond. Diabetes 68(2):258\u2013265. https:\/\/doi.org\/10.2337\/db18-0627","journal-title":"Diabetes"},{"issue":"6246","key":"5865_CR23","doi-asserted-by":"publisher","first-page":"436","DOI":"10.1126\/science.aaa1663","volume":"349","author":"B Lo","year":"2015","unstructured":"Lo B, Zhang K, Lu W et al (2015) Autoimmune disease. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. Science 349(6246):436\u2013440. https:\/\/doi.org\/10.1126\/science.aaa1663","journal-title":"Science"},{"issue":"1","key":"5865_CR24","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1182\/blood-2017-06-741033","volume":"131","author":"B Rowshanravan","year":"2018","unstructured":"Rowshanravan B, Halliday N, Sansom DM (2018) CTLA-4: a moving target in immunotherapy. Blood 131(1):58\u201367. https:\/\/doi.org\/10.1182\/blood-2017-06-741033","journal-title":"Blood"},{"issue":"6","key":"5865_CR25","doi-asserted-by":"publisher","first-page":"588","DOI":"10.1002\/dmrr.2643","volume":"31","author":"JB Bollyky","year":"2015","unstructured":"Bollyky JB, Xu P, Butte AJ et al (2015) Heterogeneity in recent-onset type 1 diabetes \u2013 a clinical trial perspective. Diabetes Metab Res Rev 31(6):588\u2013594. https:\/\/doi.org\/10.1002\/dmrr.2643","journal-title":"Diabetes Metab Res Rev"},{"issue":"11","key":"5865_CR26","doi-asserted-by":"publisher","first-page":"3835","DOI":"10.2337\/db14-0365","volume":"63","author":"S Arif","year":"2014","unstructured":"Arif S, Leete P, Nguyen V et al (2014) Blood and islet phenotypes indicate immunological heterogeneity in type 1 diabetes. Diabetes 63(11):3835\u20133845. https:\/\/doi.org\/10.2337\/db14-0365","journal-title":"Diabetes"},{"issue":"10","key":"5865_CR27","doi-asserted-by":"publisher","first-page":"530","DOI":"10.1007\/s11892-014-0530-0","volume":"14","author":"A Pugliese","year":"2014","unstructured":"Pugliese A, Vendrame F, Reijonen H, Atkinson MA, Campbell-Thompson M, Burke GW (2014) New insight on human type 1 diabetes biology: nPOD and nPOD-transplantation. Curr Diab Rep 14(10):530. https:\/\/doi.org\/10.1007\/s11892-014-0530-0","journal-title":"Curr Diab Rep"},{"issue":"6","key":"5865_CR28","doi-asserted-by":"publisher","first-page":"1258","DOI":"10.1007\/s00125-020-05115-6","volume":"63","author":"P Leete","year":"2020","unstructured":"Leete P, Oram RA, McDonald TJ et al (2020) Studies of insulin and proinsulin in pancreas and serum support the existence of aetiopathological endotypes of type 1 diabetes associated with age at diagnosis. Diabetologia 63(6):1258\u20131267. https:\/\/doi.org\/10.1007\/s00125-020-05115-6","journal-title":"Diabetologia"},{"issue":"3","key":"5865_CR29","doi-asserted-by":"publisher","first-page":"755","DOI":"10.1016\/j.cmet.2018.11.014","volume":"29","author":"N Damond","year":"2019","unstructured":"Damond N, Engler S, Zanotelli VRT et al (2019) A map of human type 1 diabetes progression by imaging mass cytometry. Cell Metab 29(3):755\u2013768.e5. https:\/\/doi.org\/10.1016\/j.cmet.2018.11.014","journal-title":"Cell Metab"},{"issue":"1","key":"5865_CR30","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1007\/s00125-020-05298-y","volume":"64","author":"A Carr\u00e9","year":"2021","unstructured":"Carr\u00e9 A, Richardson SJ, Larger E, Mallone R (2021) Presumption of guilt for T cells in type 1 diabetes: lead culprits or partners in crime depending on age of onset? Diabetologia 64(1):15\u201325. https:\/\/doi.org\/10.1007\/s00125-020-05298-y","journal-title":"Diabetologia"},{"issue":"3","key":"5865_CR31","doi-asserted-by":"publisher","first-page":"337","DOI":"10.2337\/dc15-1111","volume":"39","author":"RA Oram","year":"2016","unstructured":"Oram RA, Patel K, Hill A et al (2016) A type 1 diabetes genetic risk score can aid discrimination between type 1 and type 2 diabetes in young adults. Diabetes Care 39(3):337\u2013344. https:\/\/doi.org\/10.2337\/dc15-1111","journal-title":"Diabetes Care"},{"issue":"4","key":"5865_CR32","doi-asserted-by":"publisher","first-page":"862","DOI":"10.1007\/s00125-018-4551-0","volume":"61","author":"MB Johnson","year":"2018","unstructured":"Johnson MB, Patel KA, De Franco E et al (2018) A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes. Diabetologia 61(4):862\u2013869. https:\/\/doi.org\/10.1007\/s00125-018-4551-0","journal-title":"Diabetologia"},{"issue":"7","key":"5865_CR33","doi-asserted-by":"publisher","first-page":"2094","DOI":"10.2337\/db15-1690","volume":"65","author":"KA Patel","year":"2016","unstructured":"Patel KA, Oram RA, Flanagan SE et al (2016) Type 1 diabetes genetic risk score: a novel tool to discriminate monogenic and type 1 diabetes. Diabetes 65(7):2094\u20132099. https:\/\/doi.org\/10.2337\/db15-1690","journal-title":"Diabetes"},{"key":"5865_CR34","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1007\/978-1-4939-9833-3_15","volume":"2065","author":"C Broccanello","year":"2020","unstructured":"Broccanello C, Gerace L, Stevanato P (2020) QuantStudioTM 12K Flex OpenArray\u00ae system as a tool for high-throughput genotyping and gene expression analysis. Methods Mol Biol 2065:199\u2013208. https:\/\/doi.org\/10.1007\/978-1-4939-9833-3_15","journal-title":"Methods Mol Biol"},{"key":"5865_CR35","doi-asserted-by":"publisher","unstructured":"Li H (2013) Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM. arXiv:1303.3997 [q-bio.GN]. https:\/\/doi.org\/10.48550\/arXiv.1303.3997","DOI":"10.48550\/arXiv.1303.3997"},{"issue":"1","key":"5865_CR36","doi-asserted-by":"publisher","first-page":"308","DOI":"10.1093\/nar\/29.1.308","volume":"29","author":"ST Sherry","year":"2001","unstructured":"Sherry ST, Ward MH, Kholodov K et al (2001) dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 29(1):308\u2013311. https:\/\/doi.org\/10.1093\/nar\/29.1.308","journal-title":"Nucleic Acids Res"},{"issue":"8","key":"5865_CR37","doi-asserted-by":"publisher","first-page":"894","DOI":"10.1002\/humu.21517","volume":"32","author":"X Liu","year":"2011","unstructured":"Liu X, Jian X, Boerwinkle E (2011) dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions. Hum Mutat 32(8):894\u2013899. https:\/\/doi.org\/10.1002\/humu.21517","journal-title":"Hum Mutat"},{"issue":"1","key":"5865_CR38","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1186\/s13073-020-00803-9","volume":"12","author":"X Liu","year":"2020","unstructured":"Liu X, Li C, Mou C, Dong Y, Tu Y (2020) dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs. Genome Med 12(1):103. https:\/\/doi.org\/10.1186\/s13073-020-00803-9","journal-title":"Genome Med"},{"issue":"2","key":"5865_CR39","doi-asserted-by":"publisher","first-page":"80","DOI":"10.4161\/fly.19695","volume":"6","author":"P Cingolani","year":"2012","unstructured":"Cingolani P, Platts A, Wang LL et al (2012) 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. Fly (Austin) 6(2):80\u201392. https:\/\/doi.org\/10.4161\/fly.19695","journal-title":"Fly (Austin)"},{"issue":"7809","key":"5865_CR40","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","volume":"581","author":"KJ Karczewski","year":"2020","unstructured":"Karczewski KJ, Francioli LC, Tiao G et al (2020) The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581(7809):434\u2013443. https:\/\/doi.org\/10.1038\/s41586-020-2308-7","journal-title":"Nature"},{"issue":"5","key":"5865_CR41","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S et al (2015) 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. Genet Med 17(5):405\u2013424. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med"},{"key":"5865_CR42","volume-title":"R: A Language and Environment for Statistical Computing","author":"R Core Team","year":"2020","unstructured":"R Core Team (2020) R: A Language and Environment for Statistical Computing. R Foundation for Statistical Computing, Vienna, Austria"},{"issue":"2","key":"5865_CR43","doi-asserted-by":"publisher","first-page":"286","DOI":"10.2337\/dc10-1293","volume":"34","author":"REJ Besser","year":"2011","unstructured":"Besser REJ, Shepherd MH, McDonald TJ et al (2011) Urinary C-peptide creatinine ratio is a practical outpatient tool for identifying hepatocyte nuclear factor 1-\u03b1\/hepatocyte nuclear factor 4-\u03b1 maturity-onset diabetes of the young from long-duration type 1 diabetes. Diabetes Care 34(2):286\u2013291. https:\/\/doi.org\/10.2337\/dc10-1293","journal-title":"Diabetes Care"},{"issue":"2","key":"5865_CR44","doi-asserted-by":"publisher","first-page":"e1000833","DOI":"10.1371\/journal.pgen.1000833","volume":"6","author":"NV Morgan","year":"2010","unstructured":"Morgan NV, Morris MR, Cangul H et al (2010) Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai\u2013Dorfman disease. PLoS Genet 6(2):e1000833. https:\/\/doi.org\/10.1371\/journal.pgen.1000833","journal-title":"PLoS Genet"},{"issue":"6905","key":"5865_CR45","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1038\/nature01063","volume":"419","author":"HJ Chun","year":"2002","unstructured":"Chun HJ, Zheng L, Ahmad M et al (2002) Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency. Nature 419(6905):395\u2013399. https:\/\/doi.org\/10.1038\/nature01063","journal-title":"Nature"},{"key":"5865_CR46","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1016\/j.imlet.2016.07.001","volume":"177","author":"SI Tripodi","year":"2016","unstructured":"Tripodi SI, Mazza C, Moratto D et al (2016) Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation. Immunol Lett 177:22\u201324. https:\/\/doi.org\/10.1016\/j.imlet.2016.07.001","journal-title":"Immunol Lett"},{"issue":"6","key":"5865_CR47","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1016\/j.cmet.2006.11.002","volume":"4","author":"W Zhang","year":"2006","unstructured":"Zhang W, Feng D, Li Y, Iida K, McGrath B, Cavener DR (2006) PERK EIF2AK3 control of pancreatic \u03b2 cell differentiation and proliferation is required for postnatal glucose homeostasis. Cell Metab 4(6):491\u2013497. https:\/\/doi.org\/10.1016\/j.cmet.2006.11.002","journal-title":"Cell Metab"},{"issue":"2","key":"5865_CR48","doi-asserted-by":"publisher","first-page":"R73","DOI":"10.1530\/JME-16-0232","volume":"58","author":"X Wen","year":"2017","unstructured":"Wen X, Yang Y (2017) Emerging roles of GLIS3 in neonatal diabetes, type 1 and type 2 diabetes. J Mol Endocrinol 58(2):R73\u2013R85. https:\/\/doi.org\/10.1530\/JME-16-0232","journal-title":"J Mol Endocrinol"},{"issue":"5522","key":"5865_CR49","doi-asserted-by":"publisher","first-page":"1728","DOI":"10.1126\/science.292.5522.1728","volume":"292","author":"H Cho","year":"2001","unstructured":"Cho H, Mu J, Kim JK et al (2001) Insulin resistance and a diabetes mellitus-like syndrome in mice lacking the protein kinase Akt2 (PKB\u03b2). Science 292(5522):1728\u20131731. https:\/\/doi.org\/10.1126\/science.292.5522.1728","journal-title":"Science"},{"issue":"5675","key":"5865_CR50","doi-asserted-by":"publisher","first-page":"1325","DOI":"10.1126\/science.1096706","volume":"304","author":"S George","year":"2004","unstructured":"George S, Rochford JJ, Wolfrum C et al (2004) A family with severe insulin resistance and diabetes due to a mutation in AKT2. Science 304(5675):1325\u20131328. https:\/\/doi.org\/10.1126\/science.1096706","journal-title":"Science"},{"issue":"20","key":"5865_CR51","doi-asserted-by":"publisher","first-page":"3182","DOI":"10.1101\/gad.12.20.3182","volume":"12","author":"I Shimomura","year":"1998","unstructured":"Shimomura I, Hammer RE, Richardson JA et al (1998) Insulin resistance and diabetes mellitus in transgenic mice expressing nuclear SREBP-1c in adipose tissue: model for congenital generalized lipodystrophy. Genes Dev 12(20):3182\u20133194. https:\/\/doi.org\/10.1101\/gad.12.20.3182","journal-title":"Genes Dev"},{"issue":"26","key":"5865_CR52","doi-asserted-by":"publisher","first-page":"2849","DOI":"10.1056\/NEJMc0805398","volume":"359","author":"MJ Redondo","year":"2008","unstructured":"Redondo MJ, Jeffrey J, Fain PR, Eisenbarth GS, Orban T (2008) Concordance for islet autoimmunity among monozygotic twins. N Engl J Med 359(26):2849\u20132850. https:\/\/doi.org\/10.1056\/NEJMc0805398","journal-title":"N Engl J Med"},{"issue":"11","key":"5865_CR53","doi-asserted-by":"publisher","first-page":"3960","DOI":"10.2337\/db14-0214","volume":"63","author":"Y-G Chen","year":"2014","unstructured":"Chen Y-G, Cabrera SM, Jia S et al (2014) Molecular signatures differentiate immune states in type 1 diabetic families. Diabetes 63(11):3960\u20133973. https:\/\/doi.org\/10.2337\/db14-0214","journal-title":"Diabetes"},{"issue":"6","key":"5865_CR54","doi-asserted-by":"publisher","first-page":"1804","DOI":"10.1210\/clinem\/dgab056","volume":"106","author":"L Marchand","year":"2021","unstructured":"Marchand L, Li M, Leblicq C et al (2021) Monogenic causes in the Type 1 Diabetes Genetics Consortium cohort: low genetic risk for autoimmunity in case selection. J Clin Endocrinol Metab 106(6):1804\u20131810. https:\/\/doi.org\/10.1210\/clinem\/dgab056","journal-title":"J Clin Endocrinol Metab"},{"issue":"7759","key":"5865_CR55","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1038\/s41586-019-1231-2","volume":"570","author":"J Flannick","year":"2019","unstructured":"Flannick J, Mercader JM, Fuchsberger C et al (2019) Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls. Nature 570(7759):71\u201376. https:\/\/doi.org\/10.1038\/s41586-019-1231-2","journal-title":"Nature"}],"container-title":["Diabetologia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00125-022-05865-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00125-022-05865-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00125-022-05865-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,24]],"date-time":"2024-01-24T14:22:45Z","timestamp":1706106165000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00125-022-05865-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1,24]]},"references-count":55,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,4]]}},"alternative-id":["5865"],"URL":"https:\/\/doi.org\/10.1007\/s00125-022-05865-5","relation":{},"ISSN":["0012-186X","1432-0428"],"issn-type":[{"value":"0012-186X","type":"print"},{"value":"1432-0428","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1,24]]},"assertion":[{"value":"18 March 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"31 October 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 January 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}