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Items: 1 to 20 of 94


Genetic alterations in mesiodens as revealed by targeted next-generation sequencing and gene co-occurrence network analysis.

Kim YY, Hwang J, Kim HS, Kwon HJ, Kim S, Lee JH, Lee JH.

Oral Dis. 2017 Oct;23(7):966-972. doi: 10.1111/odi.12680. Epub 2017 May 16.


Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve.

Bonachea EM, Zender G, White P, Corsmeier D, Newsom D, Fitzgerald-Butt S, Garg V, McBride KL.

BMC Med Genomics. 2014 Sep 26;7:56. doi: 10.1186/1755-8794-7-56.


Comparison and evaluation of two exome capture kits and sequencing platforms for variant calling.

Zhang G, Wang J, Yang J, Li W, Deng Y, Li J, Huang J, Hu S, Zhang B.

BMC Genomics. 2015 Aug 5;16:581. doi: 10.1186/s12864-015-1796-6.


Clinical evaluation of panel testing by next-generation sequencing (NGS) for gene mutations in myeloid neoplasms.

Au CH, Wa A, Ho DN, Chan TL, Ma ES.

Diagn Pathol. 2016 Jan 22;11:11. doi: 10.1186/s13000-016-0456-8.


Identification of novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease by targeted next-generation sequencing.

Yang T, Meng Y, Wei X, Shen J, Zhang M, Qi C, Wang C, Liu J, Ma M, Huang S.

Clin Chim Acta. 2014 Jun 10;433:12-9. doi: 10.1016/j.cca.2014.02.011. Epub 2014 Feb 26.


Next generation sequencing of vitreoretinal lymphomas from small-volume intraocular liquid biopsies: new routes to targeted therapies.

Cani AK, Hovelson DH, Demirci H, Johnson MW, Tomlins SA, Rao RC.

Oncotarget. 2017 Jan 31;8(5):7989-7998. doi: 10.18632/oncotarget.14008.


Integration of Technical, Bioinformatic, and Variant Assessment Approaches in the Validation of a Targeted Next-Generation Sequencing Panel for Myeloid Malignancies.

Thomas M, Sukhai MA, Zhang T, Dolatshahi R, Harbi D, Garg S, Misyura M, Pugh T, Stockley TL, Kamel-Reid S.

Arch Pathol Lab Med. 2017 Jun;141(6):759-775. doi: 10.5858/arpa.2016-0547-RA. Epub 2017 Mar 9.


Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma.

Crona J, Ljungström V, Welin S, Walz MK, Hellman P, Björklund P.

PLoS One. 2015 Jul 31;10(7):e0133210. doi: 10.1371/journal.pone.0133210. eCollection 2015.


Clinical validation of targeted next-generation sequencing for inherited disorders.

Yohe S, Hauge A, Bunjer K, Kemmer T, Bower M, Schomaker M, Onsongo G, Wilson J, Erdmann J, Zhou Y, Deshpande A, Spears MD, Beckman K, Silverstein KA, Thyagarajan B.

Arch Pathol Lab Med. 2015 Feb;139(2):204-10. doi: 10.5858/arpa.2013-0625-OA.


High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing.

Halbritter J, Diaz K, Chaki M, Porath JD, Tarrier B, Fu C, Innis JL, Allen SJ, Lyons RH, Stefanidis CJ, Omran H, Soliman NA, Otto EA.

J Med Genet. 2012 Dec;49(12):756-67. doi: 10.1136/jmedgenet-2012-100973.


Targeted exome sequencing and chromosomal microarray for the molecular diagnosis of nevoid basal cell carcinoma syndrome.

Matsudate Y, Naruto T, Hayashi Y, Minami M, Tohyama M, Yokota K, Yamada D, Imoto I, Kubo Y.

J Dermatol Sci. 2017 Jun;86(3):206-211. doi: 10.1016/j.jdermsci.2017.02.282. Epub 2017 Mar 11.


Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders.

Leo VC, Morgan NV, Bem D, Jones ML, Lowe GC, Lordkipanidzé M, Drake S, Simpson MA, Gissen P, Mumford A, Watson SP, Daly ME; UK GAPP Study Group.

J Thromb Haemost. 2015 Apr;13(4):643-50. doi: 10.1111/jth.12836. Epub 2015 Jan 27.


mirTrios: an integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing.

Li J, Jiang Y, Wang T, Chen H, Xie Q, Shao Q, Ran X, Xia K, Sun ZS, Wu J.

J Med Genet. 2015 Apr;52(4):275-81. doi: 10.1136/jmedgenet-2014-102656. Epub 2015 Jan 16.


Targeted 46-gene and clinical exome sequencing for mutations causing cardiomyopathies.

Waldmüller S, Schroeder C, Sturm M, Scheffold T, Imbrich K, Junker S, Frische C, Hofbeck M, Bauer P, Bonin M, Gawaz M, Gramlich M.

Mol Cell Probes. 2015 Oct;29(5):308-14. doi: 10.1016/j.mcp.2015.05.004. Epub 2015 May 12.


Genetic profiling of thymic carcinoma using targeted next-generation sequencing.

Shitara M, Okuda K, Suzuki A, Tatematsu T, Hikosaka Y, Moriyama S, Sasaki H, Fujii Y, Yano M.

Lung Cancer. 2014 Nov;86(2):174-9. doi: 10.1016/j.lungcan.2014.08.020. Epub 2014 Sep 10.


Broad, Hybrid Capture-Based Next-Generation Sequencing Identifies Actionable Genomic Alterations in Lung Adenocarcinomas Otherwise Negative for Such Alterations by Other Genomic Testing Approaches.

Drilon A, Wang L, Arcila ME, Balasubramanian S, Greenbowe JR, Ross JS, Stephens P, Lipson D, Miller VA, Kris MG, Ladanyi M, Rizvi NA.

Clin Cancer Res. 2015 Aug 15;21(16):3631-9. doi: 10.1158/1078-0432.CCR-14-2683. Epub 2015 Jan 7.


Mutational profiling in the peripheral blood leukocytes of patients with systemic mast cell activation syndrome using next-generation sequencing.

Altmüller J, Haenisch B, Kawalia A, Menzen M, Nöthen MM, Fier H, Molderings GJ.

Immunogenetics. 2017 Jun;69(6):359-369. doi: 10.1007/s00251-017-0981-y. Epub 2017 Apr 6.


Supernumerary teeth "mesiodens". Case report.

Itro A, Difalco P.

Minerva Stomatol. 2003 Sep;52(9):465-8, 468-70. English, Italian.


Whole exome sequencing in recurrent early pregnancy loss.

Qiao Y, Wen J, Tang F, Martell S, Shomer N, Leung PC, Stephenson MD, Rajcan-Separovic E.

Mol Hum Reprod. 2016 May;22(5):364-72. doi: 10.1093/molehr/gaw008. Epub 2016 Jan 28.


VarWalker: personalized mutation network analysis of putative cancer genes from next-generation sequencing data.

Jia P, Zhao Z.

PLoS Comput Biol. 2014 Feb 6;10(2):e1003460. doi: 10.1371/journal.pcbi.1003460. eCollection 2014 Feb.

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