2019
Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report
Sandokji I, Marquez J, Ji W, Zerillo CA, Konstantino M, Lakhani SA, Khokha MK, Warejko JK. Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report. BMC Nephrology 2019, 20: 271. PMID: 31315584, PMCID: PMC6637548, DOI: 10.1186/s12882-019-1458-z.Peer-Reviewed Case Reports and Technical Notes
2017
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome
Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, Ashraf S, Rao J, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Schneider R, Gee HY, Schmidt JM, Vivante A, van der Ven AT, Ityel H, Chen J, Sadowski CE, Kohl S, Pabst WL, Nakayama M, Somers MJG, Rodig NM, Daouk G, Baum M, Stein DR, Ferguson MA, Traum AZ, Soliman NA, Kari JA, El Desoky S, Fathy H, Zenker M, Bakkaloglu SA, Müller D, Noyan A, Ozaltin F, Cadnapaphornchai MA, Hashmi S, Hopcian J, Kopp JB, Benador N, Bockenhauer D, Bogdanovic R, Stajić N, Chernin G, Ettenger R, Fehrenbach H, Kemper M, Munarriz RL, Podracka L, Büscher R, Serdaroglu E, Tasic V, Mane S, Lifton RP, Braun DA, Hildebrandt F. Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. Clinical Journal Of The American Society Of Nephrology 2017, 13: 53-62. PMID: 29127259, PMCID: PMC5753307, DOI: 10.2215/cjn.04120417.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAge of OnsetChildChild, PreschoolDNA Mutational AnalysisExome SequencingFemaleGenetic Association StudiesGenetic MarkersGenetic Predisposition to DiseaseHeredityHumansInfantMaleMutationMutation RateNephrotic SyndromePedigreePhenotypePredictive Value of TestsPrognosisYoung AdultConceptsSteroid-resistant nephrotic syndromeNephrotic syndromeWhole-exome sequencingExome sequencingMonogenic causesResistant nephrotic syndromeManagement of treatmentYears of ageCongenital nephrotic syndromeAge of onsetCausative mutationsSyndrome geneKidney transplantationInternational cohortMonogenic genesMolecular genetic diagnosisSyndromePanel sequencingAbstractTextIdentification of mutationsNonconsanguineous familiesPatientsConsanguineous familyGenetic diagnosisDiagnosis