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Journal Article
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 04/2019, Volume 9, Issue 1, pp. 6426 - 9
Next Generation Sequencing is now routinely used in the practice of diagnostic pathology to detect clinically relevant somatic and germline sequence variations... 
MULTIDISCIPLINARY SCIENCES | MUTATION | SPECTRUM
Journal Article
by Patch, Ann-Marie and Christie, Elizabeth L and Etemadmoghadam, Dariush and Garsed, Dale W and George, Joshy and Fereday, Sian and Nones, Katia and Cowin, Prue and Alsop, Kathryn and Bailey, Peter J and Kassahn, Karin S and Newell, Felicity and Quinn, Michael C.J and Kazakoff, Stephen and Quek, Kelly and Wilhelm-Benartzi, Charlotte and Curry, Ed and Leong, Huei San and Hamilton, Anne and Mileshkin, Linda and Au-Yeung, George and Kennedy, Catherine and Hung, Jillian and Chiew, Yoke-Eng and Harnett, Paul and Friedlander, Michael and Quinn, Michael and Pyman, Jan and Cordner, Stephen and O'Brien, Patricia and Leditschke, Jodie and Young, Greg and Strachan, Kate and Waring, Paul and Azar, Walid and Mitchell, Chris and Traficante, Nadia and Hendley, Joy and Thorne, Heather and Shackleton, Mark and Miller, David K and Arnau, Gisela Mir and Tothill, Richard W and Holloway, Timothy P and Semple, Timothy and Harliwong, Ivon and Nourse, Craig and Nourbakhsh, Ehsan and Manning, Suzanne and Idrisoglu, Senel and Bruxner, Timothy J. C and Christ, Angelika N and Poudel, Barsha and Holmes, Oliver and Anderson, Matthew and Leonard, Conrad and Lonie, Andrew and Hall, Nathan and Wood, Scott and Taylor, Darrin F and Xu, Qinying and Lynn Fink, J and Waddell, Nick and Drapkin, Ronny and Stronach, Euan and Gabra, Hani and Brown, Robert and Jewell, Andrea and Nagaraj, Shivashankar H and Markham, Emma and Wilson, Peter J and Ellul, Jason and McNally, Orla and Doyle, Maria A and Vedururu, Ravikiran and Stewart, Collin and Lengyel, Ernst and Pearson, John V and Waddell, Nicola and Defazio, Anna and Grimmond, Sean M and Bowtell, David D. L and Australian Ovarian Canc Study Grp and Australian Ovarian Cancer Study Group and The Australian Ovarian Cancer Study Group
Nature, ISSN 0028-0836, 05/2015, Volume 521, Issue 7553, pp. 489 - 494
Journal Article
Journal Article
BMC Bioinformatics, ISSN 1471-2105, 12/2017, Volume 18, Issue 1, pp. 555 - 7
Background: High throughput sequencing requires bioinformatics pipelines to process large volumes of data into meaningful variants that can be translated into... 
Amplicon | Pipelines | Canary | PathOS | Targeted sequencing | Clinical diagnostics | Variant calling | ANNOVAR | BIOCHEMICAL RESEARCH METHODS | GENETIC-VARIANTS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | ANNOTATION | MATHEMATICAL & COMPUTATIONAL BIOLOGY | Diagnostic equipment (Medical) | Pipe lines
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2015, Volume 10, Issue 7, p. e0132987
Journal Article
Cancer Research, ISSN 0008-5472, 04/2010, Volume 70, Issue 8 Supplement, pp. LB-184 - LB-184
Journal Article
The Journal of Pathology, ISSN 0022-3417, 07/2017, Volume 242, Issue 3, pp. 273 - 283
Hereditary endocrine neoplasias, including phaeochromocytoma/paraganglioma and medullary thyroid cancer, are caused by autosomal dominant mutations in several... 
medullary thyroid cancer | genomics | phaeochromocytoma | hereditary endocrine neoplasia | neoplasia | tumour heterogeneity | paraganglioma | WHOLE-GENOME | RET ALLELE | COPY-NUMBER ALTERATIONS | MEDULLARY-THYROID CARCINOMA | PATHOLOGY | MAX MUTATIONS | PHEOCHROMOCYTOMA | ONCOLOGY | SOMATIC POINT MUTATIONS | PROSTATE-CANCER | GENETIC-HETEROGENEITY | SEQUENCING DATA | Humans | Male | Germ-Line Mutation - genetics | Loss of Heterozygosity | Young Adult | Pheochromocytoma - pathology | Adult | Female | Neoplasms, Second Primary - genetics | Genes, Neoplasm - genetics | Adrenal Gland Neoplasms - pathology | Neuroendocrine Tumors - pathology | Neoplasms, Multiple Primary - genetics | Paraganglioma - genetics | Neoplasms, Multiple Primary - pathology | Neuroendocrine Tumors - genetics | Positron Emission Tomography Computed Tomography | Exome - genetics | Succinate Dehydrogenase - genetics | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics | Polymorphism, Single Nucleotide - genetics | Pheochromocytoma - genetics | Adrenal Gland Neoplasms - genetics | Neoplasms, Second Primary - pathology | Proto-Oncogene Proteins c-ret - genetics | Epigenetic inheritance | Thyroid cancer | Gene mutations | Analysis | Genomics | Single nucleotide polymorphisms | Metastasis | Transcription | Genes | Biological evolution | Single-nucleotide polymorphism | Metastases | Convergence | Gene sequencing | Heterogeneity | Copyrights | Evolution | Tumorigenesis | Sampling | Thyroid | Genomic analysis | Paraganglioma | Trajectories | Patients | Diseases | Phaeochromocytoma | Mutation | Arrays | Twins | Dendritic branching | Tumors | Cancer | Polymorphism
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 12/2013, Volume 123, Issue 12, pp. 5351 - 5360
Ionizing radiation (IR) and germline mutations in the retinoblastoma tumor suppressor gene (RB1) are the strongest risk factors for developing osteosarcoma.... 
MEDICINE, RESEARCH & EXPERIMENTAL | NKT CELLS | CANCER-PATIENTS | P53 LOSS | RETINOBLASTOMA PROTEIN | OSTEO-SARCOMA | FUNCTIONAL-ANALYSIS | GENE-EXPRESSION | TUMOR-SUPPRESSOR | MURAMYL TRIPEPTIDE | T-CELLS | Immunologic Surveillance | Prognosis | Humans | Neoplasm Proteins - physiology | Neoplasms, Radiation-Induced - etiology | Neoplasm Proteins - antagonists & inhibitors | Neoplasm Transplantation - immunology | Neoplasms, Radiation-Induced - immunology | Bone Neoplasms - pathology | Cytokines - physiology | Intercellular Signaling Peptides and Proteins - physiology | Neoplasms, Radiation-Induced - genetics | RNA Interference | Interleukin-6 - physiology | Bone Neoplasms - genetics | Neoplasms, Radiation-Induced - pathology | Retinoblastoma Protein - physiology | Genes, Retinoblastoma | Mice, Inbred C57BL | Osteosarcoma - etiology | Cellular Senescence - physiology | Bone Neoplasms - immunology | Interleukin-6 - deficiency | Bone Neoplasms - etiology | Osteoblasts - pathology | Osteosarcoma - immunology | Phenotype | Animals | Calcium Radioisotopes - toxicity | Retinoblastoma Protein - antagonists & inhibitors | Mice | Osteosarcoma - genetics | Osteosarcoma - pathology | Natural Killer T-Cells - immunology | Proteins | Survival analysis | Scholarships & fellowships | Bone cancer | Statistical methods | Software | Kinases | Gene expression | Tumors | Index Medicus | Abridged Index Medicus
Journal Article