{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T19:24:55Z","timestamp":1792092295359,"version":"4.4.0"},"reference-count":25,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2017,4,1]],"date-time":"2017-04-01T00:00:00Z","timestamp":1491004800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,4,2]],"date-time":"2021-04-02T00:00:00Z","timestamp":1617321600000},"content-version":"vor","delay-in-days":1462,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["kidney-international.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Kidney International"],"published-print":{"date-parts":[[2017,4]]},"DOI":"10.1016\/j.kint.2016.10.013","type":"journal-article","created":{"date-parts":[[2017,1,21]],"date-time":"2017-01-21T01:47:25Z","timestamp":1484963245000},"page":"937-947","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":271,"title":["Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management"],"prefix":"10.1016","volume":"91","author":[{"given":"Agnieszka","family":"Bierzynska","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugh J.","family":"McCarthy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrina","family":"Soderquest","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ethan S.","family":"Sen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Colby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen Y.","family":"Ding","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marwa M.","family":"Nabhan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Larissa","family":"Kerecuk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shivram","family":"Hegde","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Hughes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Marks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sally","family":"Feather","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas J.A.","family":"Webb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milos","family":"Ognjanovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Christian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodney D.","family":"Gilbert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manish D.","family":"Sinha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graham M.","family":"Lord","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Simpson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ania B.","family":"Koziell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gavin I.","family":"Welsh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moin A.","family":"Saleem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.kint.2016.10.013_bib1","doi-asserted-by":"crossref","first-page":"1241","DOI":"10.1007\/s00467-011-1851-8","article-title":"Nephrotic syndrome in the Netherlands: a population-based cohort study and a review of the literature","volume":"26","author":"El Bakkali","year":"2011","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.kint.2016.10.013_bib2","doi-asserted-by":"crossref","first-page":"1040","DOI":"10.1007\/s004670100021","article-title":"Time trends and ethnic patterns of childhood nephrotic syndrome in Yorkshire, UK","volume":"16","author":"McKinney","year":"2001","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.kint.2016.10.013_bib3","doi-asserted-by":"crossref","first-page":"592","DOI":"10.2215\/CJN.06260614","article-title":"Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort","volume":"10","author":"Trautmann","year":"2015","journal-title":"Clin J Am Soc Nephrol"},{"key":"10.1016\/j.kint.2016.10.013_bib4","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1016\/S0140-6736(03)14184-0","article-title":"Nephrotic syndrome in childhood","volume":"362","author":"Eddy","year":"2003","journal-title":"Lancet"},{"key":"10.1016\/j.kint.2016.10.013_bib5","doi-asserted-by":"crossref","first-page":"1279","DOI":"10.1681\/ASN.2014050489","article-title":"A\u00a0single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome","volume":"26","author":"Sadowski","year":"2015","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.kint.2016.10.013_bib6","first-page":"226","article-title":"Genes and podocytes - new insights into mechanisms of podocytopathy","volume":"5","author":"Bierzynska","year":"2014","journal-title":"Front Endocrinol"},{"key":"10.1016\/j.kint.2016.10.013_bib7","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.ajhg.2014.11.014","article-title":"Defects of CRB2 cause steroid-resistant nephrotic syndrome","volume":"96","author":"Ebarasi","year":"2015","journal-title":"Am J Human Genet"},{"key":"10.1016\/j.kint.2016.10.013_bib8","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1016\/j.ajhg.2015.08.013","article-title":"Biallelic mutations in nuclear pore complex subunit NUP107 cause early-childhood-onset steroid-resistant nephrotic syndrome","volume":"97","author":"Miyake","year":"2015","journal-title":"Am J Human Genet"},{"key":"10.1016\/j.kint.2016.10.013_bib9","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1038\/ng.3512","article-title":"Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome","volume":"48","author":"Braun","year":"2016","journal-title":"Nat Genet"},{"key":"10.1016\/j.kint.2016.10.013_bib10","doi-asserted-by":"crossref","first-page":"2375","DOI":"10.1172\/JCI79504","article-title":"KANK deficiency leads to podocyte dysfunction and nephrotic syndrome","volume":"125","author":"Gee","year":"2015","journal-title":"J\u00a0Clin Invest"},{"key":"10.1016\/j.kint.2016.10.013_bib11","doi-asserted-by":"crossref","first-page":"637","DOI":"10.2215\/CJN.07200712","article-title":"Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome","volume":"8","author":"McCarthy","year":"2013","journal-title":"Clin J Am Soc Nephrol"},{"key":"10.1016\/j.kint.2016.10.013_bib12","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1097\/MCD.0b013e328346f6dc","article-title":"Denys-Drash syndrome and gonadoblastoma in a patient with Klinefelter syndrome","volume":"20","author":"Tanteles","year":"2011","journal-title":"Clin Dysmorphol"},{"key":"10.1016\/j.kint.2016.10.013_bib13","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1002\/humu.22485","article-title":"NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum","volume":"35","author":"Bouchireb","year":"2014","journal-title":"Human Mutat"},{"key":"10.1016\/j.kint.2016.10.013_bib14","doi-asserted-by":"crossref","first-page":"1459","DOI":"10.1007\/s00467-015-3067-9","article-title":"Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease","volume":"30","author":"Lennon","year":"2015","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.kint.2016.10.013_bib15","doi-asserted-by":"crossref","first-page":"5179","DOI":"10.1172\/JCI69000","article-title":"ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption","volume":"123","author":"Ashraf","year":"2013","journal-title":"J\u00a0Clin Invest"},{"key":"10.1016\/j.kint.2016.10.013_bib16","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1093\/hmg\/11.4.379","article-title":"Genotype\/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration","volume":"11","author":"Koziell","year":"2002","journal-title":"Human Mol Genet"},{"key":"10.1016\/j.kint.2016.10.013_bib17","doi-asserted-by":"crossref","first-page":"2970","DOI":"10.1093\/ndt\/gfq088","article-title":"Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)","volume":"25","author":"Schoeb","year":"2010","journal-title":"Nephrol Dialysis Transplant"},{"key":"10.1016\/j.kint.2016.10.013_bib18","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1093\/ndt\/gfr202","article-title":"TRPC6 gene variants in Turkish children with steroid-resistant nephrotic syndrome","volume":"27","author":"Mir","year":"2012","journal-title":"Nephrol Dialysis Transplant"},{"key":"10.1016\/j.kint.2016.10.013_bib19","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1053\/j.ajkd.2008.01.018","article-title":"Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism","volume":"51","author":"Choi","year":"2008","journal-title":"Am J Kidney Dis"},{"key":"10.1016\/j.kint.2016.10.013_bib20","doi-asserted-by":"crossref","first-page":"3694","DOI":"10.1681\/ASN.2005070706","article-title":"Mutational and biological analysis of alpha-actinin-4 in focal segmental glomerulosclerosis","volume":"16","author":"Weins","year":"2005","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.kint.2016.10.013_bib21","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1007\/s00467-014-3031-0","article-title":"Clinical phenotype of APOL1 nephropathy in young relatives of patients with end-stage renal disease","volume":"30","author":"Anyaegbu","year":"2015","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.kint.2016.10.013_bib22","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1038\/ki.2012.428","article-title":"Design of the Nephrotic Syndrome Study Network (NEPTUNE) to evaluate primary glomerular nephropathy by a multidisciplinary approach","volume":"83","author":"Gadegbeku","year":"2013","journal-title":"Kidney Int"},{"key":"10.1016\/j.kint.2016.10.013_bib23","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1681\/ASN.2013080852","article-title":"Initial steroid sensitivity in children with steroid-resistant nephrotic syndrome predicts post-transplant recurrence","volume":"25","author":"Ding","year":"2014","journal-title":"J Am Soc Nephrol."},{"key":"10.1016\/j.kint.2016.10.013_bib24","doi-asserted-by":"crossref","first-page":"1397","DOI":"10.1038\/ng1918","article-title":"Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible","volume":"38","author":"Hinkes","year":"2006","journal-title":"Nat Genet"},{"key":"10.1016\/j.kint.2016.10.013_bib25","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1016\/j.ajhg.2014.04.010","article-title":"Mutations in EMP2 cause childhood-onset nephrotic syndrome","volume":"94","author":"Gee","year":"2014","journal-title":"Am J Human Genet"}],"container-title":["Kidney International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0085253816306123?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0085253816306123?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,4,2]],"date-time":"2021-04-02T13:02:59Z","timestamp":1617368579000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0085253816306123"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4]]},"references-count":25,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017,4]]}},"alternative-id":["S0085253816306123"],"URL":"https:\/\/doi.org\/10.1016\/j.kint.2016.10.013","relation":{},"ISSN":["0085-2538"],"issn-type":[{"value":"0085-2538","type":"print"}],"subject":[],"published":{"date-parts":[[2017,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management","name":"articletitle","label":"Article Title"},{"value":"Kidney International","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.kint.2016.10.013","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016, International Society of Nephrology. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}