These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. Renal Genetics Clinic: 3-Year Experience in the Cleveland Clinic. Tan XY; Borden C; Roberts MB; Mazzola S; Tan QK; Fatica R; Simon J; Calle J; Taliercio J; Dell K; Provenzano LF; Deitzer D; Rincon-Choles H; Mehdi A; Lioudis M; Poggio ED; Nakhoul G; Nurko S; Ashour T; Bou Matar RN; Kwon C; Stephany B; Thomas G; Cheng YW; Leingang D; Alsadah A; Maditz R; Robert H; Vachhrajani T; Sedor J; Gadegbeku C; Wang X Kidney Med; 2023 Feb; 5(2):100585. PubMed ID: 36712315 [TBL] [Abstract][Full Text] [Related]
3. Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract. Wu CW; Lim TY; Wang C; Seltzsam S; Zheng B; Schierbaum L; Schneider S; Mann N; Connaughton DM; Nakayama M; van der Ven AT; Dai R; Kolvenbach CM; Kause F; Ottlewski I; Stajic N; Soliman NA; Kari JA; El Desoky S; Fathy HM; Milosevic D; Turudic D; Al Saffar M; Awad HS; Eid LA; Ramanathan A; Senguttuvan P; Mane SM; Lee RS; Bauer SB; Lu W; Hilger AC; Tasic V; Shril S; Sanna-Cherchi S; Hildebrandt F Eur Urol Open Sci; 2022 Oct; 44():106-112. PubMed ID: 36185583 [TBL] [Abstract][Full Text] [Related]
4. Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies. Riedhammer KM; Braunisch MC; Günthner R; Wagner M; Hemmer C; Strom TM; Schmaderer C; Renders L; Tasic V; Gucev Z; Nushi-Stavileci V; Putnik J; Stajić N; Weidenbusch M; Uetz B; Montoya C; Strotmann P; Ponsel S; Lange-Sperandio B; Hoefele J Am J Kidney Dis; 2020 Oct; 76(4):460-470. PubMed ID: 32359821 [TBL] [Abstract][Full Text] [Related]
5. Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience. Riedhammer KM; Ćomić J; Tasic V; Putnik J; Abazi-Emini N; Paripovic A; Stajic N; Meitinger T; Nushi-Stavileci V; Berutti R; Braunisch MC; Hoefele J Eur J Hum Genet; 2023 Jun; 31(6):674-680. PubMed ID: 36922632 [TBL] [Abstract][Full Text] [Related]
6. Genome-Wide Sequencing for Unexplained Developmental Disabilities or Multiple Congenital Anomalies: A Health Technology Assessment. Ontario Health (Quality) Ont Health Technol Assess Ser; 2020; 20(11):1-178. PubMed ID: 32194879 [TBL] [Abstract][Full Text] [Related]
7. Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life. Werfel L; Martens H; Hennies I; Gjerstad AC; Fröde K; Altarescu G; Banerjee S; Valenzuela Palafoll I; Geffers R; Kirschstein M; Christians A; Bjerre A; Haffner D; Weber RG Kidney Int Rep; 2023 Nov; 8(11):2439-2457. PubMed ID: 38025229 [TBL] [Abstract][Full Text] [Related]
8. Deciphering the mutation spectrum in south Indian children with congenital anomalies of the kidney and urinary tract. Narikot A; Pardeshi VC; Shubha AM; Iyengar A; Vasudevan A BMC Nephrol; 2022 Jan; 23(1):1. PubMed ID: 34979951 [TBL] [Abstract][Full Text] [Related]
9. Pilot Study of Return of Genetic Results to Patients in Adult Nephrology. Nestor JG; Marasa M; Milo-Rasouly H; Groopman EE; Husain SA; Mohan S; Fernandez H; Aggarwal VS; Ahram DF; Vena N; Bogyo K; Bomback AS; Radhakrishnan J; Appel GB; Ahn W; Cohen DJ; Canetta PA; Dube GK; Rao MK; Morris HK; Crew RJ; Sanna-Cherchi S; Kiryluk K; Gharavi AG Clin J Am Soc Nephrol; 2020 May; 15(5):651-664. PubMed ID: 32299846 [TBL] [Abstract][Full Text] [Related]
10. Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study. Blasco M; Quiroga B; García-Aznar JM; Castro-Alonso C; Fernández-Granados SJ; Luna E; Fernández Fresnedo G; Ossorio M; Izquierdo MJ; Sanchez-Ospina D; Castañeda-Infante L; Mouzo R; Cao M; Besada-Cerecedo ML; Pan-Lizcano R; Torra R; Ortiz A; de Sequera P; Am J Kidney Dis; 2024 Dec; 84(6):719-730.e1. PubMed ID: 38972501 [TBL] [Abstract][Full Text] [Related]
11. Genetic Architecture of Childhood Kidney and Urological Diseases in China. Fang Y; Shi H; Xiang T; Liu J; Liu J; Tang X; Fang X; Chen J; Zhai Y; Shen Q; Li G; Sun L; Bi Y; Wang X; Qian Y; Wu B; Wang H; Zhou W; Ma D; Mao J; Jiang X; Sun S; Shen Y; Liu X; Zhang A; Wang X; Huang W; Li Q; Wang M; Gao X; Wu Y; Deng F; Zhang R; Liu C; Yu L; Zhuang J; Sun Q; Dang X; Bai H; Zhu Y; Lu S; Zhang B; Shao X; Liu X; Han M; Zhao L; Liu Y; Gao J; Bao Y; Zhang D; Ma Q; Zhao L; Xia Z; Lu B; Wang Y; Zhao M; Zhang J; Jian S; He G; Zhang H; Zhao B; Li X; Wang F; Li Y; Zhu H; Luo X; Li J; Rao J; Xu H Phenomics; 2021 Jun; 1(3):91-104. PubMed ID: 36939782 [TBL] [Abstract][Full Text] [Related]
12. Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease. Wilson PC; Love-Gregory L; Corliss M; McNulty S; Heusel JW; Gaut JP Kidney360; 2020 Aug; 1(8):772-780. PubMed ID: 35372954 [TBL] [Abstract][Full Text] [Related]
13. Clinical utility of genetic testing in Indian children with kidney diseases. Saha A; Kapadia SF; Vala KB; Patel HV BMC Nephrol; 2023 Jul; 24(1):212. PubMed ID: 37464296 [TBL] [Abstract][Full Text] [Related]
14. Diagnostic utility of genetic testing in patients undergoing renal biopsy. Benson KA; Murray SL; Doyle R; Doyle B; Dorman AM; Sadlier D; Brennan E; Large M; Cavalleri GL; Godson C; Conlon PJ Cold Spring Harb Mol Case Stud; 2020 Oct; 6(5):. PubMed ID: 32723786 [TBL] [Abstract][Full Text] [Related]
15. Genomic medicine for kidney disease. Groopman EE; Rasouly HM; Gharavi AG Nat Rev Nephrol; 2018 Feb; 14(2):83-104. PubMed ID: 29307893 [TBL] [Abstract][Full Text] [Related]
16. Molecular findings among patients referred for clinical whole-exome sequencing. Yang Y; Muzny DM; Xia F; Niu Z; Person R; Ding Y; Ward P; Braxton A; Wang M; Buhay C; Veeraraghavan N; Hawes A; Chiang T; Leduc M; Beuten J; Zhang J; He W; Scull J; Willis A; Landsverk M; Craigen WJ; Bekheirnia MR; Stray-Pedersen A; Liu P; Wen S; Alcaraz W; Cui H; Walkiewicz M; Reid J; Bainbridge M; Patel A; Boerwinkle E; Beaudet AL; Lupski JR; Plon SE; Gibbs RA; Eng CM JAMA; 2014 Nov; 312(18):1870-9. PubMed ID: 25326635 [TBL] [Abstract][Full Text] [Related]
17. Diagnostic yield of massively parallel sequencing in patients with chronic kidney disease of unknown etiology: rationale and design of a national prospective cohort study. de Haan A; Eijgelsheim M; Vogt L; van der Zwaag B; van Eerde AM; Knoers NVAM; de Borst MH BMJ Open; 2022 Apr; 12(4):e057829. PubMed ID: 35393322 [TBL] [Abstract][Full Text] [Related]
18. Framework From a Multidisciplinary Approach for Transitioning Variants of Unknown Significance From Clinical Genetic Testing in Kidney Disease to a Definitive Classification. Mirshahi UL; Bhan A; Tholen LE; Fang B; Chen G; Moore B; Cook A; Anand PM; Patel K; Haas ME; Lotta LA; Igarashi P; de Baaij JHF; Ferrè S; Hoenderop JGJ; Carey DJ; Chang AR Kidney Int Rep; 2022 Sep; 7(9):2047-2058. PubMed ID: 36090499 [TBL] [Abstract][Full Text] [Related]
19. Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases. Bekheirnia N; Glinton KE; Rossetti L; Manor J; Chen W; Lamb DJ; Braun MC; Bekheirnia MR Kidney360; 2021 Jan; 2(1):90-104. PubMed ID: 35368817 [TBL] [Abstract][Full Text] [Related]
20. A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases. Becherucci F; Landini S; Palazzo V; Cirillo L; Raglianti V; Lugli G; Tiberi L; Dirupo E; Bellelli S; Mazzierli T; Lomi J; Ravaglia F; Sansavini G; Allinovi M; Giannese D; Somma C; Spatoliatore G; Vergani D; Artuso R; Rosati A; Cirami C; Dattolo PC; Campolo G; De Chiara L; Papi L; Vaglio A; Lazzeri E; Anders HJ; Mazzinghi B; Romagnani P J Am Soc Nephrol; 2023 Apr; 34(4):706-720. PubMed ID: 36753701 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]