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For: Stokman MF, Renkema KY, Giles RH, Schaefer F, Knoers NV, van Eerde AM. The expanding phenotypic spectra of kidney diseases: insights from genetic studies. Nat Rev Nephrol 2016;12:472-83. [PMID: 27374918 DOI: 10.1038/nrneph.2016.87] [Cited by in Crossref: 36] [Cited by in F6Publishing: 35] [Article Influence: 6.0] [Reference Citation Analysis]
Number Citing Articles
1 Westland R, Renkema KY, Knoers NVAM. Clinical Integration of Genome Diagnostics for Congenital Anomalies of the Kidney and Urinary Tract. Clin J Am Soc Nephrol 2020;16:128-37. [PMID: 32312792 DOI: 10.2215/CJN.14661119] [Cited by in Crossref: 6] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]
2 Murray SL, Fennelly NK, Doyle B, Lynch SA, Conlon PJ. Integration of genetic and histopathology data in interpretation of kidney disease. Nephrol Dial Transplant 2020;35:1113-32. [PMID: 32777081 DOI: 10.1093/ndt/gfaa176] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
3 Torra R, Furlano M, Ortiz A, Ars E. Genetic kidney diseases as an underrecognized cause of chronic kidney disease: the key role of international registry reports. Clin Kidney J 2021;14:1879-85. [PMID: 34345410 DOI: 10.1093/ckj/sfab056] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
4 Feltran LS, Varela P, Silva ED, Veronez CL, Franco MC, Filho AP, Camargo MF, Koch Nogueira PC, Pesquero JB. Targeted Next-Generation Sequencing in Brazilian Children With Nephrotic Syndrome Submitted to Renal Transplant. Transplantation 2017;101:2905-12. [PMID: 28658201 DOI: 10.1097/TP.0000000000001846] [Cited by in Crossref: 10] [Cited by in F6Publishing: 7] [Article Influence: 2.0] [Reference Citation Analysis]
5 Al Alawi I, Al Riyami M, Barroso-Gil M, Powell L, Olinger E, Al Salmi I, Sayer JA. The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients. F1000Res 2021;10:207. [PMID: 34354814 DOI: 10.12688/f1000research.40338.2] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
6 Ivanov SV, Bauer R, Pokidysheva EN, Boudko SP. Collagen IV Exploits a Cl- Step Gradient for Scaffold Assembly. Adv Exp Med Biol 2021;21:129-41. [PMID: 32979156 DOI: 10.1007/5584_2020_582] [Reference Citation Analysis]
7 Vaisitti T, Sorbini M, Callegari M, Kalantari S, Bracciamà V, Arruga F, Vanzino SB, Rendine S, Togliatto G, Giachino D, Pelle A, Cocchi E, Benvenuta C, Baldovino S, Rollino C, Fenoglio R, Sciascia S, Tamagnone M, Vitale C, Calabrese G, Biancone L, Bussolino S, Savoldi S, Borzumati M, Cantaluppi V, Chiappero F, Ungari S, Peruzzi L, Roccatello D, Amoroso A, Deaglio S. Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience. J Nephrol 2021;34:1767-81. [PMID: 33226606 DOI: 10.1007/s40620-020-00898-8] [Reference Citation Analysis]
8 Gaut JP, Jain S, Pfeifer JD, Vigh-Conrad KA, Corliss M, Sharma MK, Heusel JW, Cottrell CE. Routine use of clinical exome-based next-generation sequencing for evaluation of patients with thrombotic microangiopathies. Mod Pathol 2017;30:1739-47. [PMID: 28752844 DOI: 10.1038/modpathol.2017.90] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 0.6] [Reference Citation Analysis]
9 Bullich G, Domingo-gallego A, Vargas I, Ruiz P, Lorente-grandoso L, Furlano M, Fraga G, Madrid Á, Ariceta G, Borregán M, Piñero-fernández JA, Rodríguez-peña L, Ballesta-martínez MJ, Llano-rivas I, Meñica MA, Ballarín J, Torrents D, Torra R, Ars E. A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases. Kidney International 2018;94:363-71. [DOI: 10.1016/j.kint.2018.02.027] [Cited by in Crossref: 49] [Cited by in F6Publishing: 41] [Article Influence: 12.3] [Reference Citation Analysis]
10 Feltran LS, Watanabe A, Guaragna MS, Machado IC, Casimiro FMS, Neves PDMM, Palma LM, Varela P, Vaisbich MH, Marie SKN, Facincani I, Pesquero JB, Belangero VMS, Sampson MG, Koch Nogueira PC, Onuchic LF. Brazilian Network of Pediatric Nephrotic Syndrome (REBRASNI). Kidney Int Rep 2020;5:358-62. [PMID: 32154457 DOI: 10.1016/j.ekir.2019.11.007] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
11 Son JH, Xie G, Yuan C, Ena L, Li Z, Goldstein A, Huang L, Wang L, Shen F, Liu H, Mehl K, Groopman EE, Marasa M, Kiryluk K, Gharavi AG, Chung WK, Hripcsak G, Friedman C, Weng C, Wang K. Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes. Am J Hum Genet 2018;103:58-73. [PMID: 29961570 DOI: 10.1016/j.ajhg.2018.05.010] [Cited by in Crossref: 65] [Cited by in F6Publishing: 52] [Article Influence: 16.3] [Reference Citation Analysis]
12 Aymé S, Bockenhauer D, Day S, Devuyst O, Guay-Woodford LM, Ingelfinger JR, Klein JB, Knoers NVAM, Perrone RD, Roberts J, Schaefer F, Torres VE, Cheung M, Wheeler DC, Winkelmayer WC; Conference Participants. Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int 2017;92:796-808. [PMID: 28938953 DOI: 10.1016/j.kint.2017.06.018] [Cited by in Crossref: 21] [Cited by in F6Publishing: 16] [Article Influence: 5.3] [Reference Citation Analysis]
13 Nuñez-Gonzalez L, Carrera N, Garcia-Gonzalez MA. Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians. Int J Mol Sci 2021;22:11414. [PMID: 34768847 DOI: 10.3390/ijms222111414] [Reference Citation Analysis]
14 Martínez-Pulleiro R, García-Murias M, Fidalgo-Díaz M, García-González MÁ. Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Alport Syndrome: A Primer for Clinicians. Int J Mol Sci 2021;22:11063. [PMID: 34681722 DOI: 10.3390/ijms222011063] [Reference Citation Analysis]
15 Ong E, Wang LL, Schaub J, O'Toole JF, Steck B, Rosenberg AZ, Dowd F, Hansen J, Barisoni L, Jain S, de Boer IH, Valerius MT, Waikar SS, Park C, Crawford DC, Alexandrov T, Anderton CR, Stoeckert C, Weng C, Diehl AD, Mungall CJ, Haendel M, Robinson PN, Himmelfarb J, Iyengar R, Kretzler M, Mooney S, He Y; Kidney Precision Medicine Project. Modelling kidney disease using ontology: insights from the Kidney Precision Medicine Project. Nat Rev Nephrol 2020;16:686-96. [PMID: 32939051 DOI: 10.1038/s41581-020-00335-w] [Cited by in Crossref: 13] [Cited by in F6Publishing: 6] [Article Influence: 6.5] [Reference Citation Analysis]
16 Oh J, Shin JI, Lee K, Lee C, Ko Y, Lee JS. Clinical application of a phenotype-based NGS panel for differential diagnosis of inherited kidney disease and beyond. Clin Genet 2021;99:236-49. [PMID: 33095447 DOI: 10.1111/cge.13869] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
17 Wang M, Chun J, Genovese G, Knob AU, Benjamin A, Wilkins MS, Friedman DJ, Appel GB, Lifton RP, Mane S, Pollak MR. Contributions of Rare Gene Variants to Familial and Sporadic FSGS. J Am Soc Nephrol 2019;30:1625-40. [PMID: 31308072 DOI: 10.1681/ASN.2019020152] [Cited by in Crossref: 18] [Cited by in F6Publishing: 10] [Article Influence: 6.0] [Reference Citation Analysis]
18 Stokman MF, van der Zwaag B, van de Kar NCAJ, van Haelst MM, van Eerde AM, van der Heijden JW, Kroes HY, Ippel E, Schulp AJA, van Gassen KL, van Rooij IALM, Giles RH, Beales PL, Roepman R, Arts HH, Bongers EMHF, Renkema KY, Knoers NVAM, van Reeuwijk J, Lilien MR. Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy. Pediatr Nephrol 2018;33:1701-12. [PMID: 29974258 DOI: 10.1007/s00467-018-3958-7] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 2.3] [Reference Citation Analysis]
19 G. Valverde M, Faria J, Sendino Garví E, Janssen MJ, Masereeuw R, Mihăilă SM. Organs-on-chip technology: a tool to tackle genetic kidney diseases. Pediatr Nephrol. [DOI: 10.1007/s00467-022-05508-2] [Reference Citation Analysis]
20 Xu Z, Chen J, Yu W, Li X, Lin B, Lai D, Xu A, Tang Y. New COL4A5 mutation in IgA nephropathy. Postgrad Med J 2022;98:13-7. [PMID: 33087535 DOI: 10.1136/postgradmedj-2020-138625] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
21 Snoek R, Nguyen TQ, van der Zwaag B, van Zuilen AD, Kruis HME, van Gils-Verrij LA, Goldschmeding R, Knoers NVAM, Rookmaaker MB, van Eerde AM. Importance of Genetic Diagnostics in Adult-Onset Focal Segmental Glomerulosclerosis. Nephron 2019;142:351-8. [PMID: 31096240 DOI: 10.1159/000499937] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 2.3] [Reference Citation Analysis]
22 Lim K, Steele D, Fenves A, Thadhani R, Heher E, Karaa A. Focal segmental glomerulosclerosis associated with mitochondrial disease. Clin Nephrol Case Stud 2017;5:20-5. [PMID: 29043143 DOI: 10.5414/CNCS109083] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
23 Snoek R, van Jaarsveld RH, Nguyen TQ, Peters EDJ, Elferink MG, Ernst RF, Rookmaaker MB, Lilien MR, Spierings E, Goldschmeding R, Knoers NVAM, van der Zwaag B, van Zuilen AD, van Eerde AM. Genetics-first approach improves diagnostics of ESKD patients younger than 50 years. Nephrol Dial Transplant 2020:gfaa363. [PMID: 33306124 DOI: 10.1093/ndt/gfaa363] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
24 Mrug M, Bloom MS, Seto C, Malhotra M, Tabriziani H, Gauthier P, Sidlow V, McKanna T, Billings PR. Genetic Testing for Chronic Kidney Diseases: Clinical Utility and Barriers Perceived by Nephrologists. Kidney Med 2021;3:1050-6. [PMID: 34939014 DOI: 10.1016/j.xkme.2021.08.006] [Reference Citation Analysis]
25 Soraru J, Chakera A, Isbel N, Mallawaarachichi A, Rogers N, Trnka P, Patel C, Mallett A. The evolving role of diagnostic genomics in kidney transplantation. Kidney International Reports 2022. [DOI: 10.1016/j.ekir.2022.05.019] [Reference Citation Analysis]
26 Negrisolo S, Carraro A, Fregonese G, Benetti E, Schaefer F, Alberti M, Melchionda S, Fischetto R, Giordano M, Murer L. Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms? Eur J Hum Genet 2018;26:1708-12. [PMID: 29973660 DOI: 10.1038/s41431-018-0213-4] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
27 Chiereghin C, Robusto M, Mastrangelo A, Castorina P, Montini G, Giani M, Duga S, Asselta R, Soldà G. Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis. PLoS One 2017;12:e0178630. [PMID: 28570636 DOI: 10.1371/journal.pone.0178630] [Cited by in Crossref: 8] [Cited by in F6Publishing: 9] [Article Influence: 1.6] [Reference Citation Analysis]
28 Furlano M, Martínez V, Pybus M, Arce Y, Crespí J, Venegas MDP, Bullich G, Domingo A, Ayasreh N, Benito S, Lorente L, Ruíz P, Gonzalez VL, Arlandis R, Cabello E, Torres F, Guirado L, Ars E, Torra R. Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study. Am J Kidney Dis 2021:S0272-6386(21)00505-9. [PMID: 33838161 DOI: 10.1053/j.ajkd.2021.02.326] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
29 de Haan A, Eijgelsheim M, Vogt L, Knoers NVAM, de Borst MH. Diagnostic Yield of Next-Generation Sequencing in Patients With Chronic Kidney Disease of Unknown Etiology. Front Genet 2019;10:1264. [PMID: 31921302 DOI: 10.3389/fgene.2019.01264] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
30 Snoek R, Stokman MF, Lichtenbelt KD, van Tilborg TC, Simcox CE, Paulussen ADC, Dreesen JCMF, van Reekum F, Lely AT, Knoers NVAM, de Die-Smulders CEM, van Eerde AM. Preimplantation Genetic Testing for Monogenic Kidney Disease. Clin J Am Soc Nephrol 2020;15:1279-86. [PMID: 32855195 DOI: 10.2215/CJN.03550320] [Cited by in Crossref: 8] [Cited by in F6Publishing: 5] [Article Influence: 4.0] [Reference Citation Analysis]
31 Snoek R, van Eerde AM, Knoers NV. Importance of reliable variant calling and clear phenotyping when reporting on gene panel testing in renal disease. Kidney International 2017;92:1325-7. [DOI: 10.1016/j.kint.2017.07.009] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.8] [Reference Citation Analysis]
32 Ars E, Torra R. Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics. Clin Kidney J 2017;10:586-93. [PMID: 28980669 DOI: 10.1093/ckj/sfx051] [Cited by in Crossref: 11] [Cited by in F6Publishing: 10] [Article Influence: 2.2] [Reference Citation Analysis]
33 Groopman EE, Rasouly HM, Gharavi AG. Genomic medicine for kidney disease. Nat Rev Nephrol 2018;14:83-104. [PMID: 29307893 DOI: 10.1038/nrneph.2017.167] [Cited by in Crossref: 50] [Cited by in F6Publishing: 44] [Article Influence: 12.5] [Reference Citation Analysis]
34 van Eerde AM, Krediet CP, Rookmaaker MB, van Reekum FE, Knoers NV, Lely AT. Pre-pregnancy advice in chronic kidney disease: do not forget genetic counseling. Kidney International 2016;90:905-6. [DOI: 10.1016/j.kint.2016.05.035] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 1.0] [Reference Citation Analysis]
35 Zhao X, Chen C, Wei Y, Zhao G, Liu L, Wang C, Zhang J, Kong X. Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique. Mol Genet Genomic Med 2019;7:e653. [PMID: 30968591 DOI: 10.1002/mgg3.653] [Cited by in Crossref: 8] [Cited by in F6Publishing: 13] [Article Influence: 2.7] [Reference Citation Analysis]
36 Sun L, Zhang X, Wang Z. NPHS2 gene polymorphism aggravates renal damage caused by focal segmental glomerulosclerosis with COL4A3 mutation. Biosci Rep 2021;41:BSR20203248. [PMID: 33305316 DOI: 10.1042/BSR20203248] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
37 Cornec-Le Gall E, Torres VE, Harris PC. Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases. J Am Soc Nephrol. 2018;29:13-23. [PMID: 29038287 DOI: 10.1681/asn.2017050483] [Cited by in Crossref: 91] [Cited by in F6Publishing: 55] [Article Influence: 18.2] [Reference Citation Analysis]
38 Schaefer F. "It's In Your Genes": Exome Sequencing Enables Precision Diagnostics in Proteinuric Kidney Diseases. Clin J Am Soc Nephrol 2020;15:10-2. [PMID: 31846934 DOI: 10.2215/CJN.14241119] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
39 Mallett AJ, McCarthy HJ, Ho G, Holman K, Farnsworth E, Patel C, Fletcher JT, Mallawaarachchi A, Quinlan C, Bennetts B, Alexander SI. Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders. Kidney Int 2017;92:1493-506. [PMID: 28844315 DOI: 10.1016/j.kint.2017.06.013] [Cited by in Crossref: 44] [Cited by in F6Publishing: 32] [Article Influence: 8.8] [Reference Citation Analysis]
40 Cornec-Le Gall E, Alam A, Perrone RD. Autosomal dominant polycystic kidney disease. Lancet. 2019;393:919-935. [PMID: 30819518 DOI: 10.1016/s0140-6736(18)32782-x] [Cited by in Crossref: 103] [Cited by in F6Publishing: 55] [Article Influence: 34.3] [Reference Citation Analysis]
41 Al Alawi I, Al Riyami M, Barroso-Gil M, Powell L, Olinger E, Al Salmi I, Sayer JA. The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients. F1000Res 2021;10:207. [PMID: 34354814 DOI: 10.12688/f1000research.40338.2] [Reference Citation Analysis]
42 Deng S, Xu H, Yuan J, Xiao J, Yuan L, Deng X, Guan L, Zhu A, Rong P, Zhang J, Deng H. Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing. Indian J Med Res 2016;144:200-5. [PMID: 27934798 DOI: 10.4103/0971-5916.195026] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 0.8] [Reference Citation Analysis]
43 Gómez-garcía F, Martínez-pulleiro R, Carrera N, Allegue C, Garcia-gonzalez MA. Genetic Kidney Diseases (GKDs) Modeling Using Genome Editing Technologies. Cells 2022;11:1571. [DOI: 10.3390/cells11091571] [Reference Citation Analysis]