{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Warejko JK"],"funding":["NCATS NIH HHS","NIDDK NIH HHS","NHGRI NIH HHS","NIAMS NIH HHS","NIH HHS"],"pagination":["53-62"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5753307"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["13(1)"],"pubmed_abstract":["<h4>Background and objectives</h4>Steroid-resistant nephrotic syndrome overwhelmingly progresses to ESRD. More than 30 monogenic genes have been identified to cause steroid-resistant nephrotic syndrome. We previously detected causative mutations using targeted panel sequencing in 30% of patients with steroid-resistant nephrotic syndrome. Panel sequencing has a number of limitations when compared with whole exome sequencing. We employed whole exome sequencing to detect monogenic causes of steroid-resistant nephrotic syndrome in an international cohort of 300 families.<h4>Design, setting, participants, & measurements</h4>Three hundred thirty-five individuals with steroid-resistant nephrotic syndrome from 300 families were recruited from April of 1998 to June of 2016. Age of onset was restric"],"journal":["Clinical journal of the American Society of Nephrology : CJASN"],"pubmed_title":["Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome."],"pmcid":["PMC5753307"],"funding_grant_id":["T32 DK007726","R01 DK076683","T32 AR053461","S10 OD018521","UL1 TR001863","U54 HG006504","UM1 HG006504","P30 DK079310"],"pubmed_authors":["Vivante A","Soliman NA","Hildebrandt F","Daga A","Baum M","van der Ven AT","Cadnapaphornchai MA","Bockenhauer D","Traum AZ","Kemper M","Schmidt JM","Podracka L","Ferguson MA","Rao J","Noyan A","Widmeier E","Chen J","Zenker M","Shril S","Braun DA","Daouk G","Mane S","Lawson JA","Tan W","Rodig NM","Buscher R","Serdaroglu E","Muller D","Benador N","Bogdanovic R","Fehrenbach H","Ozaltin F","Sadowski CE","Tasic V","Hashmi S","Warejko JK","El Desoky S","Bakkaloglu SA","Chernin G","Munarriz RL","Majmundar AJ","Stein DR","Gee HY","Stajic N","Schapiro D","Nakayama M","Hermle T","Somers MJG","Ettenger R","Hopcian J","Schneider R","Lovric S","Ityel H","Kopp JB","Ashraf S","Kohl S","Jobst-Schwan T","Kari JA","Pabst WL","Lifton RP","Fathy H"],"additional_accession":[]},"is_claimable":false,"name":"Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.","description":"<h4>Background and objectives</h4>Steroid-resistant nephrotic syndrome overwhelmingly progresses to ESRD. More than 30 monogenic genes have been identified to cause steroid-resistant nephrotic syndrome. We previously detected causative mutations using targeted panel sequencing in 30% of patients with steroid-resistant nephrotic syndrome. Panel sequencing has a number of limitations when compared with whole exome sequencing. We employed whole exome sequencing to detect monogenic causes of steroid-resistant nephrotic syndrome in an international cohort of 300 families.<h4>Design, setting, participants, & measurements</h4>Three hundred thirty-five individuals with steroid-resistant nephrotic syndrome from 300 families were recruited from April of 1998 to June of 2016. Age of onset was restric","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018 Jan","modification":"2026-05-01T05:33:12.678Z","creation":"2026-04-07T16:46:47.043Z"},"accession":"S-EPMC5753307","cross_references":{"pubmed":["29127259"],"doi":["10.2215/cjn.04120417","10.2215/CJN.04120417"]}}