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.
249 related articles for article (PubMed ID: 29869463)
21. Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases. Mansilla MA; Sompallae RR; Nishimura CJ; Kwitek AE; Kimble MJ; Freese ME; Campbell CA; Smith RJ; Thomas CP Nephrol Dial Transplant; 2021 Jan; 36(2):295-305. PubMed ID: 31738409 [TBL] [Abstract][Full Text] [Related]
22. 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]
24. Diagnostics of Inherited Metabolic Diseases in Newborns with the Hyperammonemia Syndrome at the Onset of Disease (Pilot Study). Kolchina AN; Yatsyshina EE; Malysheva LV; Ledentsova EE; Lidyaeva EE; Khaletskaya OV Sovrem Tekhnologii Med; 2021; 13(1):59-64. PubMed ID: 34513067 [TBL] [Abstract][Full Text] [Related]
25. Archived neonatal dried blood spot samples can be used for accurate whole genome and exome-targeted next-generation sequencing. Hollegaard MV; Grauholm J; Nielsen R; Grove J; Mandrup S; Hougaard DM Mol Genet Metab; 2013; 110(1-2):65-72. PubMed ID: 23830478 [TBL] [Abstract][Full Text] [Related]
26. Utility of NIST Whole-Genome Reference Materials for the Technical Validation of a Multigene Next-Generation Sequencing Test. Shum BOV; Henner I; Belluoccio D; Hinchcliffe MJ J Mol Diagn; 2017 Jul; 19(4):602-612. PubMed ID: 28502726 [TBL] [Abstract][Full Text] [Related]
27. A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield. Ankala A; da Silva C; Gualandi F; Ferlini A; Bean LJ; Collins C; Tanner AK; Hegde MR Ann Neurol; 2015 Feb; 77(2):206-14. PubMed ID: 25380242 [TBL] [Abstract][Full Text] [Related]
28. Comprehensive genetic testing approach for major inherited kidney diseases, using next-generation sequencing with a custom panel. Mori T; Hosomichi K; Chiga M; Mandai S; Nakaoka H; Sohara E; Okado T; Rai T; Sasaki S; Inoue I; Uchida S Clin Exp Nephrol; 2017 Feb; 21(1):63-75. PubMed ID: 26920127 [TBL] [Abstract][Full Text] [Related]
29. Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability. Antoniadi T; Buxton C; Dennis G; Forrester N; Smith D; Lunt P; Burton-Jones S BMC Med Genet; 2015 Sep; 16():84. PubMed ID: 26392352 [TBL] [Abstract][Full Text] [Related]
30. Design and application of a 23-gene panel by next-generation sequencing for inherited coagulation bleeding disorders. Bastida JM; Del Rey M; Lozano ML; Sarasquete ME; Benito R; Fontecha ME; Fisac R; García-Frade LJ; Aguilar C; Martínez MP; Pardal E; Aguilera C; Pérez B; Ramos R; Cardesa MR; Martin-Antorán JM; Silvestre LA; Cebeira MJ; Bermejo N; Riesco S; Mendoza MC; García-Sanz R; González-Díaz M; Hernández-Rivas JM; González-Porras JR Haemophilia; 2016 Jul; 22(4):590-7. PubMed ID: 26879396 [TBL] [Abstract][Full Text] [Related]
31. A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China. Yang RL; Qian GL; Wu DW; Miao JK; Yang X; Wu BQ; Yan YQ; Li HB; Mao XM; He J; Shen H; Zou H; Xue SY; Li XZ; Niu TT; Xiao R; Zhao ZY World J Pediatr; 2023 Jul; 19(7):663-673. PubMed ID: 36847978 [TBL] [Abstract][Full Text] [Related]
32. Validation of an NGS Approach for Diagnostic BRCA1/BRCA2 Mutation Testing. Dacheva D; Dodova R; Popov I; Goranova T; Mitkova A; Mitev V; Kaneva R Mol Diagn Ther; 2015 Apr; 19(2):119-30. PubMed ID: 25893891 [TBL] [Abstract][Full Text] [Related]
33. An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients. Almeida LS; Pereira C; Aanicai R; Schröder S; Bochinski T; Kaune A; Urzi A; Spohr TCLS; Viceconte N; Oppermann S; Alasel M; Ebadat S; Iftikhar S; Jasinge E; Elsayed SM; Tomoum H; Marzouk I; Jalan AB; Cerkauskaite A; Cerkauskiene R; Tkemaladze T; Nadeem AM; El Din Mahmoud IG; Mossad FA; Kamel M; Selim LA; Cheema HA; Paknia O; Cozma C; Juaristi-Manrique C; Guatibonza-Moreno P; Böttcher T; Vogel F; Pinto-Basto J; Bertoli-Avella A; Bauer P Eur J Hum Genet; 2022 Sep; 30(9):1029-1035. PubMed ID: 35614200 [TBL] [Abstract][Full Text] [Related]
34. Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening. Kaseniit KE; Collins E; Lo C; Moyer K; Mar-Heyming R; Kang HP; Muzzey D Clin Genet; 2019 Sep; 96(3):236-245. PubMed ID: 31170325 [TBL] [Abstract][Full Text] [Related]
35. The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants. Wasserstein MP; Caggana M; Bailey SM; Desnick RJ; Edelmann L; Estrella L; Holzman I; Kelly NR; Kornreich R; Kupchik SG; Martin M; Nafday SM; Wasserman R; Yang A; Yu C; Orsini JJ Genet Med; 2019 Mar; 21(3):631-640. PubMed ID: 30093709 [TBL] [Abstract][Full Text] [Related]
36. [Analysis of the results for genetic disease screening among 1 000 newborns from Huzhou]. Shen G; Zou L; Li W; Tang K; Zhang Y; Ding Z; Shen X Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 May; 41(5):551-555. PubMed ID: 38684299 [TBL] [Abstract][Full Text] [Related]
37. Molecular testing in newborn screening: VUS burden among true positives and secondary reproductive limitations via expanded carrier screening panels. Cook S; Dunn E; Kornish J; Calderwood L; Campion M; Cusmano-Ozog KP; Tise CG Genet Med; 2024 Apr; 26(4):101055. PubMed ID: 38146699 [TBL] [Abstract][Full Text] [Related]
38. Development and validation of an expanded targeted sequencing panel for non-invasive prenatal diagnosis of sporadic skeletal dysplasia. Wang CY; Tang YA; Lee IW; Chang FM; Chien CW; Pan HA; Sun HS BMC Med Genomics; 2021 Nov; 14(Suppl 3):212. PubMed ID: 34789231 [TBL] [Abstract][Full Text] [Related]
39. 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]