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.
4. Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients. Lim EC; Brett M; Lai AH; Lee SP; Tan ES; Jamuar SS; Ng IS; Tan EC Hum Genomics; 2015 Dec; 9():33. PubMed ID: 26666243 [TBL] [Abstract][Full Text] [Related]
5. Targeted next-generation sequencing in a large series of fetuses with severe renal diseases. Jordan P; Dorval G; Arrondel C; Morinière V; Tournant C; Audrezet MP; Michel-Calemard L; Putoux A; Lesca G; Labalme A; Whalen S; Loeuillet L; Martinovic J; Attie-Bitach T; Bessières B; Schaefer E; Scheidecker S; Lambert L; Beneteau C; Patat O; Boute-Benejean O; Molin A; Guimiot F; Fontanarosa N; Nizon M; Lefebvre M; Jeanpierre C; Saunier S; Heidet L Hum Mutat; 2022 Mar; 43(3):347-361. PubMed ID: 35005812 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest. Riera-Escamilla A; Enguita-Marruedo A; Moreno-Mendoza D; Chianese C; Sleddens-Linkels E; Contini E; Benelli M; Natali A; Colpi GM; Ruiz-Castañé E; Maggi M; Baarends WM; Krausz C Hum Reprod; 2019 Jun; 34(6):978-988. PubMed ID: 31125047 [TBL] [Abstract][Full Text] [Related]
9. Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections. Ponińska JK; Bilińska ZT; Truszkowska G; Michalak E; Podgórska A; Stępień-Wojno M; Chmielewski P; Lutyńska A; Płoski R J Transl Med; 2022 Jan; 20(1):42. PubMed ID: 35078481 [TBL] [Abstract][Full Text] [Related]
10. How Far Should We Explore Hypospadias? Next-generation Sequencing Applied to a Large Cohort of Hypospadiac Patients. Ea V; Bergougnoux A; Philibert P; Servant-Fauconnet N; Faure A; Breaud J; Gaspari L; Sultan C; Paris F; Kalfa N Eur Urol; 2021 Apr; 79(4):507-515. PubMed ID: 33468338 [TBL] [Abstract][Full Text] [Related]
11. Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease. Blue GM; Kirk EP; Giannoulatou E; Dunwoodie SL; Ho JW; Hilton DC; White SM; Sholler GF; Harvey RP; Winlaw DS J Am Coll Cardiol; 2014 Dec; 64(23):2498-506. PubMed ID: 25500235 [TBL] [Abstract][Full Text] [Related]
12. Clinical application of a phenotype-based NGS panel for differential diagnosis of inherited kidney disease and beyond. Oh J; Shin JI; Lee K; Lee C; Ko Y; Lee JS Clin Genet; 2021 Feb; 99(2):236-249. PubMed ID: 33095447 [TBL] [Abstract][Full Text] [Related]
13. Diagnostic Yield of Next-Generation Sequencing in Patients With Chronic Kidney Disease of Unknown Etiology. de Haan A; Eijgelsheim M; Vogt L; Knoers NVAM; de Borst MH Front Genet; 2019; 10():1264. PubMed ID: 31921302 [TBL] [Abstract][Full Text] [Related]
14. Assessing known chronic kidney disease associated genetic variants in Saudi Arabian populations. Cyrus C; Al-Mueilo S; Vatte C; Chathoth S; Li YR; Qutub H; Al Ali R; Al-Muhanna F; Lanktree MB; Alkharsah KR; Al-Rubaish A; Kim-Mozeleski B; Keating B; Al Ali A BMC Nephrol; 2018 Apr; 19(1):88. PubMed ID: 29665793 [TBL] [Abstract][Full Text] [Related]
16. Analysis of pathogenic variants from the ClinVar database in healthy people using next-generation sequencing. Rančelis T; Arasimavičius J; Ambrozaitytė L; Kavaliauskienė I; Domarkienė I; Karčiauskaitė D; Kučinskienė ZA; Kučinskas V Genet Res (Camb); 2017 Aug; 99():e6. PubMed ID: 28851476 [TBL] [Abstract][Full Text] [Related]
17. The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation. Schrezenmeier E; Kremerskothen E; Halleck F; Staeck O; Liefeldt L; Choi M; Schüler M; Weber U; Bachmann N; Grohmann M; Wagner T; Budde K; Bergmann C Genet Med; 2021 Jul; 23(7):1219-1224. PubMed ID: 33712733 [TBL] [Abstract][Full Text] [Related]
18. Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy. Lee J; Lee C; Ki CS; Lee J Mol Genet Genomic Med; 2020 Sep; 8(9):e1376. PubMed ID: 32613771 [TBL] [Abstract][Full Text] [Related]
19. Identification of 27 Novel Variants in Genes Cerkauskaite A; Savige J; Janonyte K; Jeremiciute I; Miglinas M; Kazenaite E; Laurinavicius A; Strupaite-Sileikiene R; Vainutiene V; Burnyte B; Jankauskiene A; Rolfs A; Bauer P; Schröder S; Cerkauskiene R Front Med (Lausanne); 2022; 9():859521. PubMed ID: 35419377 [TBL] [Abstract][Full Text] [Related]
20. Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels. LaDuca H; Farwell KD; Vuong H; Lu HM; Mu W; Shahmirzadi L; Tang S; Chen J; Bhide S; Chao EC PLoS One; 2017; 12(2):e0170843. PubMed ID: 28152038 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]