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Items: 1 to 20 of 90

1.

Next generation sequencing in clinical diagnosis.

Lee H, Martinez-Agosto JA, Rexach J, Fogel BL.

Lancet Neurol. 2019 May;18(5):426. doi: 10.1016/S1474-4422(19)30110-3. No abstract available.

PMID:
30981320
2.

Clinical Metagenomic Next-Generation Sequencing for Pathogen Detection.

Gu W, Miller S, Chiu CY.

Annu Rev Pathol. 2019 Jan 24;14:319-338. doi: 10.1146/annurev-pathmechdis-012418-012751. Epub 2018 Oct 24.

3.

Untargeted next-generation sequencing-based first-line diagnosis of infection in immunocompromised adults: a multicentre, blinded, prospective study.

Parize P, Muth E, Richaud C, Gratigny M, Pilmis B, Lamamy A, Mainardi JL, Cheval J, de Visser L, Jagorel F, Ben Yahia L, Bamba G, Dubois M, Join-Lambert O, Leruez-Ville M, Nassif X, Lefort A, Lanternier F, Suarez F, Lortholary O, Lecuit M, Eloit M.

Clin Microbiol Infect. 2017 Aug;23(8):574.e1-574.e6. doi: 10.1016/j.cmi.2017.02.006. Epub 2017 Feb 10.

4.

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.

NĂ©meth AH, Kwasniewska AC, Lise S, Parolin Schnekenberg R, Becker EB, Bera KD, Shanks ME, Gregory L, Buck D, Zameel Cader M, Talbot K, de Silva R, Fletcher N, Hastings R, Jayawant S, Morrison PJ, Worth P, Taylor M, Tolmie J, O'Regan M; UK Ataxia Consortium, Valentine R, Packham E, Evans J, Seller A, Ragoussis J.

Brain. 2013 Oct;136(Pt 10):3106-18. doi: 10.1093/brain/awt236. Epub 2013 Sep 11.

5.

Targeted next-generation sequencing identifies a subset of idiopathic hypereosinophilic syndrome with features similar to chronic eosinophilic leukemia, not otherwise specified.

Wang SA, Tam W, Tsai AG, Arber DA, Hasserjian RP, Geyer JT, George TI, Czuchlewski DR, Foucar K, Rogers HJ, Hsi ED, Bryan Rea B, Bagg A, Dal Cin P, Zhao C, Kelley TW, Verstovsek S, Bueso-Ramos C, Orazi A.

Mod Pathol. 2016 Aug;29(8):854-64. doi: 10.1038/modpathol.2016.75. Epub 2016 May 13.

6.

Next-generation sequencing-based multi-gene mutation profiling of solid tumors using fine needle aspiration samples: promises and challenges for routine clinical diagnostics.

Kanagal-Shamanna R, Portier BP, Singh RR, Routbort MJ, Aldape KD, Handal BA, Rahimi H, Reddy NG, Barkoh BA, Mishra BM, Paladugu AV, Manekia JH, Kalhor N, Chowdhuri SR, Staerkel GA, Medeiros LJ, Luthra R, Patel KP.

Mod Pathol. 2014 Feb;27(2):314-27. doi: 10.1038/modpathol.2013.122. Epub 2013 Aug 2.

7.

A Next-Generation Sequencing Primer-How Does It Work and What Can It Do?

Alekseyev YO, Fazeli R, Yang S, Basran R, Maher T, Miller NS, Remick D.

Acad Pathol. 2018 May 6;5:2374289518766521. doi: 10.1177/2374289518766521. eCollection 2018 Jan-Dec. Review.

8.

Diagnostic Yield of Epilepsy Panels in Children With Medication-Refractory Epilepsy.

Segal E, Pedro H, Valdez-Gonzalez K, Parisotto S, Gliksman F, Thompson S, Sabri J, Fertig E.

Pediatr Neurol. 2016 Nov;64:66-71. doi: 10.1016/j.pediatrneurol.2016.06.019. Epub 2016 Jul 1.

PMID:
27726903
9.

Next-Generation Sequencing: The Translational Medicine Approach from "Bench to Bedside to Population".

Beigh MM.

Medicines (Basel). 2016 Jun 2;3(2). pii: E14. doi: 10.3390/medicines3020014. Review.

10.

[Application of targeted capture technology and next generation sequencing in molecular diagnosis of inherited myopathy].

Fu X, Liu A, Yang H, Wei C, Ding J, Wang S, Wang J, Yuan Y, Jiang Y, Xiong H.

Zhonghua Er Ke Za Zhi. 2015 Oct;53(10):741-6. Chinese.

PMID:
26758109
11.

Next-generation sequencing of lung cancer EGFR exons 18-21 allows effective molecular diagnosis of small routine samples (cytology and biopsy).

de Biase D, Visani M, Malapelle U, Simonato F, Cesari V, Bellevicine C, Pession A, Troncone G, Fassina A, Tallini G.

PLoS One. 2013 Dec 23;8(12):e83607. doi: 10.1371/journal.pone.0083607. eCollection 2013.

12.

Can next generation sequencing play a role in detecting pathogens in synovial fluid?

Tarabichi M, Shohat N, Goswami K, Parvizi J.

Bone Joint J. 2018 Feb;100-B(2):127-133. doi: 10.1302/0301-620X.100B2.BJJ-2017-0531.R2.

PMID:
29437053
13.

[Target gene sequence capture and next generation sequencing technology to diagnose four children with Alagille syndrome].

Gao ML, Zhong XM, Ma X, Ning HJ, Zhu D, Zou JZ.

Zhonghua Er Ke Za Zhi. 2016 Jun 2;54(6):441-5. doi: 10.3760/cma.j.issn.0578-1310.2016.06.011. Chinese.

PMID:
27256232
14.

Molecular diagnosis of unexplained haemolytic anaemia using targeted next-generation sequencing panel revealed (p.Ala337Thr) novel mutation in GPI gene in two Indian patients.

Kedar PS, Gupta V, Dongerdiye R, Chiddarwar A, Warang P, Madkaikar MR.

J Clin Pathol. 2019 Jan;72(1):81-85. doi: 10.1136/jclinpath-2018-205420. Epub 2018 Oct 18.

PMID:
30337328
15.
16.

Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.

Jones MA, Bhide S, Chin E, Ng BG, Rhodenizer D, Zhang VW, Sun JJ, Tanner A, Freeze HH, Hegde MR.

Genet Med. 2011 Nov;13(11):921-32. doi: 10.1097/GIM.0b013e318226fbf2.

17.

Next-generation sequencing is highly sensitive for the detection of beta-catenin mutations in desmoid-type fibromatoses.

Aitken SJ, Presneau N, Kalimuthu S, Dileo P, Berisha F, Tirabosco R, Amary MF, Flanagan AM.

Virchows Arch. 2015 Aug;467(2):203-10. doi: 10.1007/s00428-015-1765-0. Epub 2015 Apr 3.

PMID:
25838078
18.

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.

Todd EJ, Yau KS, Ong R, Slee J, McGillivray G, Barnett CP, Haliloglu G, Talim B, Akcoren Z, Kariminejad A, Cairns A, Clarke NF, Freckmann ML, Romero NB, Williams D, Sewry CA, Colley A, Ryan MM, Kiraly-Borri C, Sivadorai P, Allcock RJ, Beeson D, Maxwell S, Davis MR, Laing NG, Ravenscroft G.

Orphanet J Rare Dis. 2015 Nov 17;10:148. doi: 10.1186/s13023-015-0364-0.

19.

Next-generation sequencing for the diagnosis of cardiac arrhythmia syndromes.

Lubitz SA, Ellinor PT.

Heart Rhythm. 2015 May;12(5):1062-70. doi: 10.1016/j.hrthm.2015.01.011. Epub 2015 Jan 24. Review.

20.

Using a Next-Generation Sequencing Approach to Profile MicroRNAs from Human Origin.

Guanzon D, Iljas JD, Rice GE, Salomon C.

Methods Mol Biol. 2018;1710:203-217. doi: 10.1007/978-1-4939-7498-6_16.

PMID:
29197005

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