{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T05:08:08Z","timestamp":1790053688938,"version":"4.0.1"},"reference-count":73,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2014,5,1]],"date-time":"2014-05-01T00:00:00Z","timestamp":1398902400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,5,1]],"date-time":"2018-05-01T00:00:00Z","timestamp":1525132800000},"content-version":"vor","delay-in-days":1461,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Kidney International"],"published-print":{"date-parts":[[2014,5]]},"DOI":"10.1038\/ki.2014.48","type":"journal-article","created":{"date-parts":[[2014,3,5]],"date-time":"2014-03-05T13:42:11Z","timestamp":1394026931000},"page":"1030-1038","source":"Crossref","is-referenced-by-count":67,"title":["Genetic testing for nephrotic syndrome and FSGS in the era of next-generation sequencing"],"prefix":"10.1016","volume":"85","author":[{"given":"Elizabeth J.","family":"Brown","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin R.","family":"Pollak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moumita","family":"Barua","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1038\/ki.2014.48_bb0010","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1186\/gb-2011-12-9-127","article-title":"The promise and limitations of population exomics for human evolution studies","volume":"12","author":"Tennessen","year":"2011","journal-title":"Genome Biol"},{"key":"10.1038\/ki.2014.48_bb0015","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1016\/S1097-2765(00)80057-X","article-title":"Positionally cloned gene for a novel glomerular protein\u2013nephrin\u2013is mutated in congenital nephrotic syndrome","volume":"1","author":"Kestila","year":"1998","journal-title":"Mol Cell"},{"key":"10.1038\/ki.2014.48_bb0020","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1097\/01.mnh.0000165885.85803.a8","article-title":"The slit diaphragm: a signaling platform to regulate podocyte function","volume":"14","author":"Huber","year":"2005","journal-title":"Curr Opin Nephrol Hypertens"},{"key":"10.1038\/ki.2014.48_bb0025","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1038\/74166","article-title":"NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome","volume":"24","author":"Boute","year":"2000","journal-title":"Nat Genet"},{"key":"10.1038\/ki.2014.48_bb0030","doi-asserted-by":"crossref","first-page":"e907","DOI":"10.1542\/peds.2006-2164","article-title":"Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2)","volume":"119","author":"Hinkes","year":"2007","journal-title":"Pediatrics"},{"key":"10.1038\/ki.2014.48_bb0035","doi-asserted-by":"crossref","first-page":"1659","DOI":"10.1172\/JCI0216242","article-title":"NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele","volume":"110","author":"Tsukaguchi","year":"2002","journal-title":"J Clin Invest"},{"key":"10.1038\/ki.2014.48_bb0040","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1007\/s00467-009-1372-x","article-title":"Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome","volume":"25","author":"Benoit","year":"2010","journal-title":"Pediatr Nephrol"},{"key":"10.1038\/ki.2014.48_bb0045","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1681\/ASN.2007040452","article-title":"Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome","volume":"19","author":"Hinkes","year":"2008","journal-title":"J Am Soc Nephrol"},{"key":"10.1038\/ki.2014.48_bb0050","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1111\/j.1523-1755.2004.00776.x","article-title":"NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence","volume":"66","author":"Weber","year":"2004","journal-title":"Kidney Int"},{"key":"10.1038\/ki.2014.48_bb0055","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/1471-2369-9-13","article-title":"NPHS2 variation in focal and segmental glomerulosclerosis","volume":"9","author":"Tonna","year":"2008","journal-title":"BMC Nephrol"},{"key":"10.1038\/ki.2014.48_bb0060","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1038\/ki.2008.650","article-title":"Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant","volume":"75","author":"Machuca","year":"2009","journal-title":"Kidney Int"},{"key":"10.1038\/ki.2014.48_bb0065","doi-asserted-by":"crossref","first-page":"344","DOI":"10.2215\/CJN.03770410","article-title":"Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome","volume":"6","author":"Santin","year":"2011","journal-title":"Clin J Am Soc Nephrol"},{"key":"10.1038\/ki.2014.48_bb0070","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1097\/01.ASN.0000113552.59155.72","article-title":"Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome","volume":"15","author":"Ruf","year":"2004","journal-title":"J Am Soc Nephrol"},{"key":"10.1038\/ki.2014.48_bb0075","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1681\/ASN.2010010029","article-title":"Screening for NPHS2 mutations may help predict FSGS recurrence after transplantation","volume":"22","author":"Jungraithmayr","year":"2011","journal-title":"J Am Soc Nephrol"},{"key":"10.1038\/ki.2014.48_bb0080","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/S0002-9440(10)64357-X","article-title":"Podocin localizes in the kidney to the slit diaphragm area","volume":"160","author":"Roselli","year":"2002","journal-title":"Am J Pathol"},{"key":"10.1038\/ki.2014.48_bb0085","doi-asserted-by":"crossref","first-page":"1621","DOI":"10.1172\/JCI200112849","article-title":"Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin","volume":"108","author":"Schwarz","year":"2001","journal-title":"J Clin Invest"},{"key":"10.1038\/ki.2014.48_bb0090","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.2215\/CJN.05260610","article-title":"Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome","volume":"6","author":"Santin","year":"2011","journal-title":"Clin J Am Soc Nephrol"},{"key":"10.1038\/ki.2014.48_bb0095","doi-asserted-by":"crossref","first-page":"1209","DOI":"10.1681\/ASN.2009121309","article-title":"Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome","volume":"21","author":"Machuca","year":"2010","journal-title":"J Am Soc Nephrol"},{"key":"10.1038\/ki.2014.48_bb0100","doi-asserted-by":"crossref","first-page":"1278","DOI":"10.1097\/01.ASN.0000060578.79050.E0","article-title":"Broadening the spectrum of diseases related to podocin mutations","volume":"14","author":"Caridi","year":"2003","journal-title":"J Am Soc Nephrol"},{"key":"10.1038\/ki.2014.48_bb0105","doi-asserted-by":"crossref","first-page":"1038","DOI":"10.1038\/ki.2008.27","article-title":"A missense mutation in podocin leads to early and severe renal disease in mice","volume":"73","author":"Philippe","year":"2008","journal-title":"Kidney Int"},{"key":"10.1038\/ki.2014.48_bb0110","doi-asserted-by":"crossref","first-page":"1268","DOI":"10.1038\/ki.2009.381","article-title":"Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis","volume":"76","author":"Santin","year":"2009","journal-title":"Kidney Int"},{"key":"10.1038\/ki.2014.48_bb0115","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1038\/353431a0","article-title":"WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour","volume":"353","author":"Pelletier","year":"1991","journal-title":"Nature"},{"key":"10.1038\/ki.2014.48_bb0120","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1038\/ng1297-467","article-title":"Donor splice-site mutations in WT1 are responsible for Frasier syndrome","volume":"17","author":"Barbaux","year":"1997","journal-title":"Nat Genet"},{"key":"10.1038\/ki.2014.48_bb0125","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1111\/j.1523-1755.2004.00775.x","article-title":"Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome","volume":"66","author":"Ruf","year":"2004","journal-title":"Kidney Int"},{"key":"10.1038\/ki.2014.48_bb0130","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1203\/01.pdr.0000196717.94518.f0","article-title":"Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9","volume":"59","author":"Mucha","year":"2006","journal-title":"Pediatr Res"},{"key":"10.1038\/ki.2014.48_bb0135","doi-asserted-by":"crossref","first-page":"1653","DOI":"10.1007\/s00467-006-0208-1","article-title":"WT1 and glomerular diseases","volume":"21","author":"Niaudet","year":"2006","journal-title":"Pediatr Nephrol"},{"key":"10.1038\/ki.2014.48_bb0140","doi-asserted-by":"crossref","first-page":"1655","DOI":"10.2215\/CJN.09351209","article-title":"Genotype\/phenotype correlation in nephrotic syndrome caused by WT1 mutations","volume":"5","author":"Chernin","year":"2010","journal-title":"Clin J Am Soc Nephrol"},{"key":"10.1038\/ki.2014.48_bb0145","doi-asserted-by":"crossref","first-page":"824","DOI":"10.1086\/301806","article-title":"Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype\/phenotype correlations by use of a computerized mutation database","volume":"62","author":"Jeanpierre","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1038\/ki.2014.48_bb0150","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1136\/jmg.2009.076166","article-title":"Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome","volume":"47","author":"Boyer","year":"2010","journal-title":"J Med Genet"},{"key":"10.1038\/ki.2014.48_bb0155","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1038\/jhg.2013.27","article-title":"A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families","volume":"58","author":"Al-Hamed","year":"2013","journal-title":"J Hum Genet"},{"key":"10.1038\/ki.2014.48_bb0160","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":"10.1038\/ki.2014.48_bb0165","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1007\/s00467-010-1694-8","article-title":"Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children","volume":"26","author":"Mbarek","year":"2011","journal-title":"Pediatr Nephrol"},{"key":"10.1038\/ki.2014.48_bb0170","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1007\/s00467-011-2088-2","article-title":"Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR","volume":"27","author":"Lehnhardt","year":"2012","journal-title":"Pediatr Nephrol"},{"key":"10.1038\/ki.2014.48_bb0175","doi-asserted-by":"crossref","first-page":"992","DOI":"10.1002\/humu.21304","article-title":"Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum","volume":"31","author":"Matejas","year":"2010","journal-title":"Hum Mutat"},{"key":"10.1038\/ki.2014.48_bb0180","doi-asserted-by":"crossref","first-page":"1815","DOI":"10.1681\/ASN.2011040337","article-title":"Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria","volume":"22","author":"Ovunc","year":"2011","journal-title":"J Am Soc Nephrol"},{"key":"10.1038\/ki.2014.48_bb0185","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1056\/NEJMoa1101273","article-title":"MYO1E mutations and childhood familial focal segmental glomerulosclerosis","volume":"365","author":"Mele","year":"2011","journal-title":"N Engl J Med"},{"key":"10.1038\/ki.2014.48_bb0190","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1038\/ki.2011.148","article-title":"Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome","volume":"80","author":"Sanna-Cherchi","year":"2011","journal-title":"Kidney Int"},{"key":"10.1038\/ki.2014.48_bb0195","doi-asserted-by":"crossref","first-page":"3243","DOI":"10.1172\/JCI69134","article-title":"ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling","volume":"123","author":"Gee","year":"2013","journal-title":"J Clin Invest"},{"key":"10.1038\/ki.2014.48_bb0200","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1136\/jmedgenet-2012-101442","article-title":"ARHGDIA: a novel gene implicated in nephrotic syndrome","volume":"50","author":"Gupta","year":"2013","journal-title":"J Med Genet"},{"key":"10.1038\/ki.2014.48_bb0205","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1038\/73456","article-title":"Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis","volume":"24","author":"Kaplan","year":"2000","journal-title":"Nat Genet"},{"key":"10.1038\/ki.2014.48_bb0210","doi-asserted-by":"crossref","first-page":"1801","DOI":"10.1126\/science.1106215","article-title":"A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis","volume":"308","author":"Winn","year":"2005","journal-title":"Science"},{"key":"10.1038\/ki.2014.48_bb0215","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1038\/ng.505","article-title":"Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis","volume":"42","author":"Brown","year":"2010","journal-title":"Nat Genet"},{"key":"10.1038\/ki.2014.48_bb0220","doi-asserted-by":"crossref","first-page":"2377","DOI":"10.1056\/NEJMoa1109122","article-title":"INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy","volume":"365","author":"Boyer","year":"2011","journal-title":"N Engl J Med"},{"key":"10.1038\/ki.2014.48_bb0225","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1038\/ki.2012.349","article-title":"Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis","volume":"83","author":"Barua","year":"2013","journal-title":"Kidney Int"},{"key":"10.1038\/ki.2014.48_bb0230","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 Am Soc Nephrol"},{"key":"10.1038\/ki.2014.48_bb0235","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1038\/ng1592","article-title":"TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function","volume":"37","author":"Reiser","year":"2005","journal-title":"Nat Genet"},{"key":"10.1038\/ki.2014.48_bb0240","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1681\/ASN.2010050518","article-title":"Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis","volume":"22","author":"Boyer","year":"2011","journal-title":"J Am Soc Nephrol"},{"key":"10.1038\/ki.2014.48_bb0245","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1038\/ki.2011.297","article-title":"Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis","volume":"81","author":"Gbadegesin","year":"2012","journal-title":"Kidney Int"},{"key":"10.1038\/ki.2014.48_bb0250","doi-asserted-by":"crossref","first-page":"1175","DOI":"10.1038\/ng.226","article-title":"MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis","volume":"40","author":"Kopp","year":"2008","journal-title":"Nat Genet"},{"key":"10.1038\/ki.2014.48_bb0255","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1038\/ng.232","article-title":"MYH9 is associated with nondiabetic end-stage renal disease in African Americans","volume":"40","author":"Kao","year":"2008","journal-title":"Nat Genet"},{"key":"10.1038\/ki.2014.48_bb0260","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1126\/science.1193032","article-title":"Association of trypanolytic ApoL1 variants with kidney disease in African Americans","volume":"329","author":"Genovese","year":"2010","journal-title":"Science"},{"key":"10.1038\/ki.2014.48_bb0265","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1007\/s00439-010-0861-0","article-title":"Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene","volume":"128","author":"Tzur","year":"2010","journal-title":"Hum Genet"},{"key":"10.1038\/ki.2014.48_bb0270","doi-asserted-by":"crossref","first-page":"2129","DOI":"10.1681\/ASN.2011040388","article-title":"APOL1 genetic variants in focal segmental glomerulosclerosis and HIV-associated nephropathy","volume":"22","author":"Kopp","year":"2011","journal-title":"J Am Soc Nephrol"},{"key":"10.1038\/ki.2014.48_bb0275","doi-asserted-by":"crossref","first-page":"2098","DOI":"10.1681\/ASN.2011050519","article-title":"Population-based risk assessment of APOL1 on renal disease","volume":"22","author":"Friedman","year":"2011","journal-title":"J Am Soc Nephrol"},{"key":"10.1038\/ki.2014.48_bb0280","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1111\/j.1600-6143.2011.03513.x","article-title":"The APOL1 gene and allograft survival after kidney transplantation","volume":"11","author":"Reeves-Daniel","year":"2011","journal-title":"Am J Transplant"},{"key":"10.1038\/ki.2014.48_bb0285","doi-asserted-by":"crossref","first-page":"1924","DOI":"10.1111\/j.1600-6143.2012.04033.x","article-title":"The APOL1 genotype of African American kidney transplant recipients does not impact 5-year allograft survival","volume":"12","author":"Lee","year":"2012","journal-title":"Am J Transplant"},{"key":"10.1038\/ki.2014.48_bb0290","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1016\/S0140-6736(10)60236-X","article-title":"Genetic kidney diseases","volume":"375","author":"Hildebrandt","year":"2010","journal-title":"Lancet"},{"key":"10.1038\/ki.2014.48_bb0295","doi-asserted-by":"crossref","first-page":"2075","DOI":"10.2215\/CJN.01190210","article-title":"Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome","volume":"5","author":"Buscher","year":"2010","journal-title":"Clin J Am Soc Nephrol"},{"key":"10.1038\/ki.2014.48_bb0300","doi-asserted-by":"crossref","first-page":"3527","DOI":"10.1093\/ndt\/gfn271","article-title":"Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome","volume":"23","author":"Heeringa","year":"2008","journal-title":"Nephrol Dial Transplant"},{"key":"10.1038\/ki.2014.48_bb0305","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":"10.1038\/ki.2014.48_bb0310","doi-asserted-by":"crossref","first-page":"3089","DOI":"10.1093\/ndt\/gfp229","article-title":"TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis","volume":"24","author":"Santin","year":"2009","journal-title":"Nephrol Dial Transplant"},{"key":"10.1038\/ki.2014.48_bb0315","first-page":"139","article-title":"KDIGO clinical practice guildelines for glomerulonephritis","volume":"2","year":"2012","journal-title":"Kidney Int Suppl"},{"key":"10.1038\/ki.2014.48_bb0320","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1002\/humu.21445","article-title":"Performance of mutation pathogenicity prediction methods on missense variants","volume":"32","author":"Thusberg","year":"2011","journal-title":"Hum Mutat"},{"key":"10.1038\/ki.2014.48_bb0325","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1053\/j.ajkd.2011.01.025","article-title":"Genetic diagnosis in consanguineous families with kidney disease by homozygosity mapping coupled with whole-exome sequencing","volume":"58","author":"Al-Romaih","year":"2011","journal-title":"Am J Kidney Dis"},{"key":"10.1038\/ki.2014.48_bb0330","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1136\/jmg.2010.082552","article-title":"Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy","volume":"48","author":"Otto","year":"2011","journal-title":"J Med Genet"},{"key":"10.1038\/ki.2014.48_bb0335","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/ng.806","article-title":"A framework for variation discovery and genotyping using next-generation DNA sequencing data","volume":"43","author":"DePristo","year":"2011","journal-title":"Nat Genet"},{"key":"10.1038\/ki.2014.48_bb0340","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1038\/nmeth.1419","article-title":"Target-enrichment strategies for next-generation sequencing","volume":"7","author":"Mamanova","year":"2010","journal-title":"Nat Methods"},{"key":"10.1038\/ki.2014.48_bb0345","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/nbt.2198","article-title":"Performance comparison of benchtop high-throughput sequencing platforms","volume":"30","author":"Loman","year":"2012","journal-title":"Nat Biotechnol"},{"key":"10.1038\/ki.2014.48_bb0350","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/j.ygeno.2013.04.012","article-title":"Translational utility of next-generation sequencing","volume":"102","author":"Ong","year":"2013","journal-title":"Genomics"},{"key":"10.1038\/ki.2014.48_bb0355","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1038\/nbt.2403","article-title":"Assuring the quality of next-generation sequencing in clinical laboratory practice","volume":"30","author":"Gargis","year":"2012","journal-title":"Nat Biotechnol"},{"key":"10.1038\/ki.2014.48_bb0360","doi-asserted-by":"crossref","first-page":"W452","DOI":"10.1093\/nar\/gks539","article-title":"SIFT web server: predicting effects of amino acid substitutions on proteins","volume":"40","author":"Sim","year":"2012","journal-title":"Nucleic Acids Res"},{"key":"10.1038\/ki.2014.48_bb0365","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"10.1038\/ki.2014.48_bb0370","doi-asserted-by":"crossref","first-page":"1380","DOI":"10.1038\/ng.2794","article-title":"Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes","volume":"45","author":"Flannick","year":"2013","journal-title":"Nat Genet"}],"container-title":["Kidney International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0085253815563461?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0085253815563461?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,6]],"date-time":"2018-10-06T06:51:17Z","timestamp":1538808677000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0085253815563461"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,5]]},"references-count":73,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2014,5]]}},"alternative-id":["S0085253815563461"],"URL":"https:\/\/doi.org\/10.1038\/ki.2014.48","relation":{},"ISSN":["0085-2538"],"issn-type":[{"value":"0085-2538","type":"print"}],"subject":[],"published":{"date-parts":[[2014,5]]}}}