Articles

Search Articles

Advanced search
Help

Catalogue

Articles

Databases

X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (1669) 1669
Publication (191) 191
Book Chapter (38) 38
Book Review (25) 25
Conference Proceeding (8) 8
Book / eBook (5) 5
Dissertation (2) 2
Newspaper Article (2) 2
Data Set (1) 1
Government Document (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (1141) 1141
humans (891) 891
oncology (581) 581
mutation (538) 538
cancer (458) 458
targeted therapy (427) 427
molecular targeted therapy (374) 374
female (356) 356
genetic aspects (300) 300
male (276) 276
genomics (250) 250
next-generation sequencing (235) 235
animals (234) 234
genes (234) 234
research (233) 233
analysis (231) 231
mutations (227) 227
tumors (218) 218
high-throughput nucleotide sequencing (212) 212
middle aged (194) 194
genetics & heredity (193) 193
precision medicine (184) 184
care and treatment (182) 182
chemotherapy (181) 181
deoxyribonucleic acid--dna (177) 177
genomes (172) 172
adult (171) 171
diagnosis (170) 170
aged (161) 161
dna sequencing (159) 159
health aspects (157) 157
antineoplastic agents - therapeutic use (153) 153
lung cancer (150) 150
genetics (148) 148
prognosis (146) 146
biomarkers (142) 142
patients (141) 141
article (139) 139
high-throughput nucleotide sequencing - methods (137) 137
pathology (134) 134
next generation sequencing (133) 133
gene mutations (132) 132
gene expression (127) 127
metastasis (126) 126
genetic research (123) 123
medicine & public health (123) 123
nucleotide sequencing (123) 123
biomarkers, tumor - genetics (118) 118
lung neoplasms - genetics (117) 117
open-label (113) 113
cancer therapies (111) 111
cell biology (110) 110
review (109) 109
medicine (108) 108
neoplasms - genetics (107) 107
expression (106) 106
targeted therapies (106) 106
cell lung-cancer (102) 102
immunotherapy (99) 99
pharmacology & pharmacy (97) 97
molecular targeted therapy - methods (96) 96
therapy (96) 96
biochemistry & molecular biology (95) 95
breast cancer (95) 95
dna (95) 95
usage (94) 94
kinases (93) 93
targeted sequencing (92) 92
medical research (90) 90
proteins (90) 90
methods (89) 89
personalized medicine (89) 89
gene (88) 88
medicine, research & experimental (88) 88
phenotype (87) 87
hematology (85) 85
identification (85) 85
aged, 80 and over (83) 83
adenocarcinoma (82) 82
acquired-resistance (81) 81
clinical trials (81) 81
resistance (81) 81
lung cancer, non-small cell (80) 80
biotechnology & applied microbiology (79) 79
targeted next-generation sequencing (79) 79
lung neoplasms - drug therapy (78) 78
genetic predisposition to disease (77) 77
hematology, oncology and palliative medicine (75) 75
development and progression (74) 74
colorectal cancer (73) 73
dna mutational analysis (73) 73
egfr (73) 73
treatment outcome (73) 73
drug therapy (72) 72
mice (72) 72
immunohistochemistry (71) 71
neoplasms - drug therapy (71) 71
disease (70) 70
carcinoma, non-small-cell lung - genetics (69) 69
sequence analysis, dna (69) 69
more...
Library Location Library Location
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text NGS‐based targeted resequencing identified rare subtypes of albinism: Providing accurate molecular diagnosis for Japanese patients with albinism
by Okamura, Ken and Hayashi, Masahiro and Abe, Yuko and Kono, Michihiro and Nakajima, Kimiko and Aoyama, Yumi and Nishigori, Chikako and Ishimoto, Hiroshi and Ishimatsu, Yuji and Nakajima, Mika and Hozumi, Yutaka and Suzuki, Tamio
Pigment Cell & Melanoma Research, ISSN 1755-1471, 11/2019, Volume 32, Issue 6, pp. 848 - 853
Albinism, which is commonly inherited as an autosomal recessive trait, is characterized by a reduction or absence of melanin in the eyes, skin, and hair. To... 
targeted resequencing | BLOC‐3 | albinism | next‐generation sequencing | BLOC‐2 | BLOC-2 | next-generation sequencing | BLOC-3 | Skin | Mutation | Diagnosis | Albinism | Genes | Melanin
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text CoNVaDING: Single Exon Variation Detection in Targeted NGS Data
by Johansson, Lennart F and van Dijk, Freerk and de Boer, Eddy N and van Dijk-Bos, Krista K and Jongbloed, Jan D H and Hout , van der, A and Westers, Helga and Sinke, Richard J and Swertz, Morris A and Sijmons, Rolf H and Sikkema-Raddatz, Birgit
Human Mutation, ISSN 1059-7794, 05/2016, Volume 37, Issue 5, pp. 457 - 464
We have developed a tool for detecting single exon copy number variations (CNVs) in targeted next-generation sequencing data: CoNVaDING (Copy Number Variation... 
CNV | NGS | clinical diagnostics | targeted next‐generation sequencing | exon deletion/duplication | Exon deletion/duplication | Targeted next-generation sequencing | Clinical diagnostics | Genetic Predisposition to Disease - genetics | Reproducibility of Results | Exons | Humans | Sensitivity and Specificity | Databases, Genetic | High-Throughput Nucleotide Sequencing - methods | Sequence Analysis, DNA - methods | DNA Copy Number Variations | Software - standards | Genetic disorders | Mutation
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. Full Text Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples
by Zakrzewski, F and Gieldon, L and Rump, A and Seifert, M and Grutzmann, K and Kruger, A and Loos, S and Zeugner, S and Hackmann, K and Porrmann, J and Wagner, J and Kast, K and Wimberger, P and Baretton, G and Schrock, E and Aust, D and Klink, B
BMC CANCER, ISSN 1471-2407, 04/2019, Volume 19, Issue 1, pp. 396 - 15
BackgroundWith the introduction of Olaparib treatment for BRCA-deficient recurrent ovarian cancer, testing for somatic and/or germline mutations in BRCA1/2... 
CNV detection | BRCA1 | BRCA2 | HBOC | BREAST-CANCER | Pathogenic germline mutations | ONCOLOGY | FFPE tissue | OVARIAN | Genetic testing | NGS | MUTATIONS | Targeted capture-based NGS | Care and treatment | Gene mutations | Genes | Genetic research | Genetic aspects | Comparative analysis | Genetic screening | Formaldehyde | Cancer | Ovarian cancer | Polymerase chain reaction | Usage | Patient outcomes | Breast cancer | Research | Nucleotide sequencing | Risk factors | DNA sequencing
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text panelcn.MOPS: Copy‐number detection in targeted NGS panel data for clinical diagnostics
by Povysil, Gundula and Tzika, Antigoni and Vogt, Julia and Haunschmid, Verena and Messiaen, Ludwine and Zschocke, Johannes and Klambauer, Günter and Hochreiter, Sepp and Wimmer, Katharina
Human Mutation, ISSN 1059-7794, 07/2017, Volume 38, Issue 7, pp. 889 - 897
Targeted next‐generation‐sequencing (NGS) panels have largely replaced Sanger sequencing in clinical diagnostics. They allow for the detection of copy‐number... 
copy‐number variation | clinical diagnostics | targeted next‐generation sequencing | deletion | panel sequencing | duplication | targeted next-generation sequencing | copy-number variation | VARIANTS | FAMILIES | GENETICS & HEREDITY | GENERATION | DELETIONS | User-Computer Interface | Reproducibility of Results | Gene Library | Humans | Computational Biology | Databases, Genetic | Sequence Analysis, DNA | DNA Copy Number Variations | Computer Graphics | Algorithms | Sensitivity and Specificity | High-Throughput Nucleotide Sequencing | Software | Quality Control | Diagnostic equipment (Medical) | Nucleotide sequencing | DNA sequencing | Computer applications | Quality control | Methods
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. Full Text Comprehensive kinome NGS targeted expression profiling by KING-REX
by Carapezza, Giovanni and Cusi, Carlo and Rizzo, Ettore and Raddrizzani, Laura and Di Bella, Sebastiano and Somaschini, Alessio and Leone, Antonella and Lupi, Rosita and Mutarelli, Margherita and Nigro, Vincenzo and Di Bernardo, Diego and Magni, Paolo and Isacchi, Antonella and Bosotti, Roberta
BMC Genomics, ISSN 1471-2164, 04/2019, Volume 20, Issue 1, pp. 307 - 12
BackgroundProtein kinases are enzymes controlling different cellular functions. Genetic alterations often result in kinase dysregulation, making kinases a very... 
Kinome gene expression | NGS RNA targeted panel | ALK | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | FUSIONS | CANCER | ROS1 | CELL-LINE | RNA sequencing | Genetic research | Genetic aspects | Research | Gene expression | Protein kinases | Crizotinib | Enzymes | RNA | Genes | Information management | Drug approval | Cell culture | Data analysis | Profiling | Target recognition | Transcription | Research & development--R&D | Lung cancer | Genomics | Genomes | Ribonucleic acid--RNA | Kinases | Data bases | Gene sequencing | Design | Proteins | Next-generation sequencing | Lymphomas | Mutation | Bioinformatics
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
6. Full Text Cancer modelling in the NGS era – Part I: Emerging technology and initial modelling
by Rovigatti, Ugo
Critical Reviews in Oncology and Hematology, ISSN 1040-8428, 2015, Volume 96, Issue 2, pp. 274 - 307
Highlights • In this review 1st part, an overview of promising NGS is initially provided. • Cancer modelling from XIX/XX century hypotheses provided some... 
Hematology, Oncology and Palliative Medicine | Next generation sequencing (NGS) | Crizotinib | Cancer modelling history | Targeted gene therapy (TGT) | Imatinib | Melanoma | ALK + NSCLC | Ion torrent | Vemurafenib | IDH mutations | Gene networks | Erlotinib | Cytoxic chemotherapy | Intra-tumour heterogeneity | Chronic myelogenous leukaemia (CML) | Tumour clonality | Nanopore | Gefitinib | Inter-tumour heterogeneity | Non small cell lung carcinoma (NSCLC) | ALK+NSCLC | CHRONIC MYELOGENOUS LEUKEMIA | INTRATUMOR HETEROGENEITY | GROWTH-FACTOR RECEPTOR | ALK plus NSCLC | PHILADELPHIA-CHROMOSOME | NEVER SMOKERS | HEMATOLOGY | GENE COPY NUMBER | EGFR MUTATION | OPEN-LABEL | SINGLE DNA-MOLECULES | CELL LUNG-CANCER | ONCOLOGY | History, 21st Century | Neoplasms - history | High-Throughput Screening Assays - history | History, 20th Century | Humans | High-Throughput Screening Assays - methods | Analysis | Models | Cancer
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
7. Full Text Considerations of developing an NGS assay for clinical applications in precision oncology: The NCI-MATCH NGS assay experience
by Lih, Chih-Jian, PhD and Takebe, Naoko, MD PhD
Current Problems in Cancer, ISSN 0147-0272, 2017, Volume 41, Issue 3, pp. 201 - 211
Abstract Next generation sequencing (NGS) technologies have been widely adapted in clinical oncology by utilizing the profiled genetic mutation information to... 
Hematology, Oncology and Palliative Medicine | NGS assay development and validation | Actionable mutations | NCI-MATCH trial | QUALITY | ONCOLOGY | VALIDATION | LABORATORY STANDARDS | CANCER | DNA Mutational Analysis - standards | Humans | DNA Mutational Analysis - methods | False Positive Reactions | Genetic Testing - methods | Patient Selection | Clinical Laboratory Services - legislation & jurisprudence | Neoplasms - genetics | Sensitivity and Specificity | Gene Expression Profiling - standards | Genomics - methods | Molecular Targeted Therapy - methods | Genomics - legislation & jurisprudence | Quality Control | Medical Oncology - methods | Genetic Testing - standards | Genetic Testing - legislation & jurisprudence | Computational Biology | Genomics - standards | Gene Expression Profiling - methods | Clinical Trials as Topic | Neoplasms - drug therapy | Biopsy | High-Throughput Nucleotide Sequencing | Clinical Laboratory Services - standards | Mutation | Molecular Targeted Therapy - standards | Precision Medicine - methods | Gene mutations | Lymphomas
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
8. Full Text A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS‐based genetic diagnosis
by Fu, Jiewen and Ma, Lu and Cheng, Jingliang and Yang, Lisha and Wei, Chunli and Fu, Shangyi and Lv, Hongbin and Chen, Rui and Fu, Junjiang
Journal of Cellular and Molecular Medicine, ISSN 1582-1838, 11/2018, Volume 22, Issue 11, pp. 5662 - 5669
Retinal dystrophy is an inherited, heterogeneous, chronic and progressive disorder of visual functions. The mutations of patients with autosomal recessive... 
nonsense mutation | retinal dystrophy | expression | targeted next‐generation sequencing | CDHR1 gene | targeted next-generation sequencing | MEDICINE, RESEARCH & EXPERIMENTAL | CLINICAL CHARACTERISTICS | CLASSIFICATION | PROTOCADHERIN-21 PCDH21 | IDENTIFICATION | DEGENERATION | CELL BIOLOGY | CONE-ROD DYSTROPHY | MOLECULAR DIAGNOSIS | MUTATION | CHOROIDEREMIA | RETINITIS-PIGMENTOSA | Genes | Retinal degeneration | Genetic research | Family | Genetic aspects | Diagnosis | Nucleotide sequencing | DNA sequencing | Brain | Phenotypes | Cornea | Retinopathy | Pathogenesis | Reverse transcription | Retina | Population studies | Gene expression | Genetic screening | Gene sequencing | Next-generation sequencing | Mutation | Dystrophy | Genetic counselling | Eye lens | Original
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
9. Full Text Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform
by Sun, Yan and Yuan, Jing and Wu, Limin and Li, Min and Cui, Xiaoli and Yan, Chengbin and Du, Lique and Mao, Liangwei and Man, Jianfen and Li, Wei and Kristiansen, Karsten and Wu, Xuan and Pan, Weijun and Yang, Yun
Medicine, ISSN 0025-7974, 03/2019, Volume 98, Issue 12, p. e14860
Hearing loss is a highly heterogeneous disease presented with various phenotypes. Genetic testing of disease-causing mutations plays an important role in... 
LANGUAGE | DIAGNOSIS | MEDICINE, GENERAL & INTERNAL | GJB2 | mutation detection | GENE | OTOGELIN | hearing loss | BGISEQ-500 | targeted NGS | Gene mutations | Genetic aspects | Nucleotide sequencing | Identification and classification | Health aspects | Risk factors | Methods | Hearing loss | DNA sequencing
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
10. Full Text An Improved NGS Library Construction Approach Using DNA Isolated from Human Cancer Formalin‐Fixed Paraffin‐Embedded Samples
by Zhang, Chunze and Wang, Yijia and Hu, Xia and Qin, Litao and Yin, Tingting and Fu, Wenzheng and Fan, Guanwei and Zhang, Heng and Liu, Guang and Jiang, Zhi and Zhang, Xipeng and Li, Xichuan
The Anatomical Record, ISSN 1932-8486, 06/2019, Volume 302, Issue 6, pp. 941 - 946
ABSTRACT Identification of genomic alterations from formalin‐fixed paraffin‐embedded (FFPE) samples using next‐generation sequencing (NGS) is very important... 
cancer‐targeted | clinical application | library construction | NGS | FFPE | cancer-targeted | ANATOMY & MORPHOLOGY | Genetic research | Genetic aspects | DNA | Formaldehyde | Cancer | Hybridization | Paraffin | Deoxyribonucleic acid--DNA
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
11. Full Text A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax
by Zhang, Xinxin and Ma, Dehua and Zou, Wei and Ding, Yibing and Zhu, Chengchu and Min, Haiyan and Zhang, Bin and Wang, Wei and Chen, Baofu and Ye, Minhua and Cai, Minghui and Pan, Yanqing and Cao, Lei and Wan, Yueming and Jin, Yu and Gao, Qian and Yi, Long
Respiratory Research, ISSN 1465-9921, 05/2016, Volume 17, Issue 1, p. 64
Background: Primary spontaneous pneumothorax (PSP) or pulmonary cysts is one of the manifestations of Birt-Hogg-Dube syndrome (BHDS) that is caused by... 
BHD syndrome | FLCN | Targeted next generation sequencing | CNV analysis | Primary spontaneous pneumothorax | MULTIPLE LUNG CYSTS | KIDNEY NEOPLASIA | INTRAGENIC DELETIONS | FLCN GENE | RESPIRATORY SYSTEM | FAMILIAL SPONTANEOUS PNEUMOTHORAX | FRAMEWORK | DNA-SEQUENCING DATA | HOMOCYSTINURIA | MUTATION DATABASE | EHLERS-DANLOS-SYNDROME | Birt-Hogg-Dube Syndrome - diagnosis | Humans | Computational Biology | Pneumothorax - diagnosis | Male | Proto-Oncogene Proteins - genetics | Gene Dosage | Pneumothorax - complications | Mutation - genetics | Birt-Hogg-Dube Syndrome - genetics | DNA - genetics | Gene Amplification | Birt-Hogg-Dube Syndrome - complications | Gene Deletion | Tumor Suppressor Proteins - genetics | Adult | Female | Pneumothorax - genetics | Polymorphism, Single Nucleotide | High-Throughput Nucleotide Sequencing - methods | Quality Control | Research
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
12. Full Text Identification of a novel mutation in FBN1 in a Chinese family with inherited ectopia lentis by targeted NGS
by Cao, Danmin and Xu, Zequan and Gu, Shuyan and Li, Kai and Bao, Xianyi and Zhou, Yanli and Yin, Dan and Chen, Jianjun and Wang, Yong
Gene, ISSN 0378-1119, 03/2019, Volume 689, pp. 51 - 55
To diagnose a Chinese family with inherited ectopia lentis in a genetic method and analyze the genotype-phenotype correlation. The phenotype of each family... 
Inherited ectopia lentis | Targeted NGS | Mutation | Marfan syndrome | FBN1 | GENE | MARFAN-SYNDROME | GENETICS & HEREDITY
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
13. Full Text NGS based identification of mutational hotspots for targeted therapy in anaplastic thyroid carcinoma
by Tiedje, Vera and Ting, Saskia and Herold, Thomas and Synoracki, Sarah and Latteyer, Soeren and Moeller, Lars C and Zwanziger, Denise and Stuschke, Martin and Fuehrer, Dagmar and Schmid, Kurt Werner
Oncotarget, ISSN 1949-2553, 2017, Volume 8, Issue 26, pp. 42613 - 42620
Context: Anaplastic thyroid carcinoma (ATC) represents one of the most aggressive carcinomas with no consistent survival benefit when treated with conventional... 
Targeted therapy | Next generation sequencing | Anaplastic thyroid carcinoma | anaplastic thyroid carcinoma | targeted therapy | TERT PROMOTER MUTATIONS | next generation sequencing | PHENOTYPE | CELL BIOLOGY | CELL LUNG-CANCER | BRAF V600E | PHASE-II TRIAL | INHIBITION | MELANOMA | RAS MUTATIONS | ASSOCIATION | VEMURAFENIB | Humans | Middle Aged | Male | Thyroid Carcinoma, Anaplastic - genetics | DNA Mutational Analysis - methods | Molecular Targeted Therapy | Aged, 80 and over | Thyroid Carcinoma, Anaplastic - pathology | Adult | Female | Thyroid Carcinoma, Anaplastic - therapy | Aged | High-Throughput Nucleotide Sequencing - methods
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights