1.
Comparison of Next-Generation Sequencing and Mutation-Specific Platforms in Clinical Practice
by Hinrichs, John W. J
American journal of clinical pathology, 2015-04, Vol.143 (4), p.573-578
2.
Variation in pre-PCR processing of FFPE samples leads to discrepancies in BRAF and EGFR mutation detection: a diagnostic RING trial
by Kapp, Joshua R
Journal of clinical pathology, 2015-02, Vol.68 (2), p.111-118
3.
EGFR mutation detection in ctDNA from NSCLC patient plasma: A cross-platform comparison of leading technologies to support the clinical development of AZD9291
by Thress, Kenneth S
Lung cancer (Amsterdam, Netherlands), 2015, Vol.90 (3), p.509-515
4.
EGFR mutation testing in lung cancer: a review of available methods and their use for analysis of tumour tissue and cytology samples
by Ellison, Gillian
Journal of Clinical Pathology, 2013-02, Vol.66 (2), p.79-89
5.
A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data
by Hu, Hao
Nature biotechnology, 2014-07, Vol.32 (7), p.663-669
6.
Ion Torrent next-generation sequencing for routine identification of clinically relevant mutations in colorectal cancer patients
by Malapelle, Umberto
Journal of clinical pathology, 2015-01, Vol.68 (1), p.64-68
7.
Diagnosis of Asymptomatic Primary Hyperparathyroidism: Proceedings of the Third International Workshop
by Eastell, R
The Journal of clinical endocrinology and metabolism, 2009-02, Vol.94 (2), p.340-350
8.
Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations
by Griffin, Helen R
Genetics in medicine, 2014-12, Vol.16 (12), p.962-971
9.
Behavioral Phenotypes of Disc1 Missense Mutations in Mice
by Clapcote, Steven J
Neuron (Cambridge, Mass.), 2007, Vol.54 (3), p.387-402
10.
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy
by Otto, Edgar A
Journal of medical genetics, 2011-02, Vol.48 (2), p.105-116
11.
Genomic variations in plasma cell free DNA differentiate early stage lung cancers from normal controls
by Xia, Shu
Lung cancer (Amsterdam, Netherlands), 2015, Vol.90 (1), p.78-84
12.
Clinical Implication of Highly Sensitive Detection of the BRAF V600E Mutation in Fine-Needle Aspirations of Thyroid Nodules: A Comparative Analysis of Three Molecular Assays in 458...
by Lee, Seung-Tae
The journal of clinical endocrinology and metabolism, 2012-07, Vol.97 (7), p.2299-2306
13.
Cost-Effectiveness of Molecular Testing for Thyroid Nodules With Atypia of Undetermined Significance Cytology
by Lee, Lawrence
The journal of clinical endocrinology and metabolism, 2014-08, Vol.99 (8), p.2674-2682
14.
Cost-effectiveness analysis of EGFR mutation testing and gefitinib as first-line therapy for non-small cell lung cancer
by Narita, Yusuke
Lung cancer (Amsterdam, Netherlands), 2015, Vol.90 (1), p.71-77
15.
A single-tube quantitative high-resolution melting curve method for parent-of-origin determination of 15q duplications
by Urraca, Nora
Genetic testing and molecular biomarkers, 2010-08, Vol.14 (4), p.571-576
16.
Addition of pathology and biomarker information significantly improves the performance of the Manchester scoring system for BRCA1 and BRCA2 testing
by Evans, D G R
Journal of medical genetics, 2009-12, Vol.46 (12), p.811-817
17.
Validation of a next generation sequencing panel for detection of hotspot cancer mutations in a clinical laboratory
by Shahsiah, Reza
Pathology, research and practice, 2017-02, Vol.213 (2), p.98-105
18.
The Italian scheme of External Quality Assessment for beta-thalassemia: genotyping and reporting results and testing strategies in a 5-year survey
by Tosto, Fabrizio
Genetic testing and molecular biomarkers, 2009-02, Vol.13 (1), p.31-36
19.
A stepwise strategy for rapid and cost-effective RB1 screening in Indian retinoblastoma patients
by Thirumalairaj, Kannan
Journal of human genetics, 2015-09, Vol.60 (9), p.547-552
20.
A quality control program for mutation detection in KIT and PDGFRA in gastrointestinal stromal tumours
by Hostein, Isabelle
Journal of gastroenterology, 2011-02-01, Vol.46 (5), p.586-594
