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The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 04/2019
von Hippel-Lindau disease, comprising renal cancer, hemangioblastoma and/or pheochromocytoma (PHEO) is caused by missense or truncating variants of the VHL... 
Journal Article
Clinical Biochemist Reviews, ISSN 0159-8090, 2011, Volume 32, Issue 4, pp. 177 - 195
Next-generation sequencing (NGS) is arguably one of the most significant technological advances in the biological sciences of the last 30 years. The second... 
Review
Journal Article
Cancer Research, ISSN 0008-5472, 08/2015, Volume 75, Issue 15 Supplement, pp. 2175 - 2175
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
Bioinformatics, ISSN 1367-4803, 05/2012, Volume 28, Issue 10, pp. 1307 - 1313
Results: We present a method for CNV detection for TR data, including whole-exome capture data. Our method calls copy number gains and losses for each target... 
ACCURATE | GENE | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | BIOCHEMICAL RESEARCH METHODS | MATHEMATICAL & COMPUTATIONAL BIOLOGY | FRAMEWORK | SEQUENCING DATA | IDENTIFICATION | CANCER | CAPTURE | Exome | Animals | HapMap Project | Computer Simulation | Humans | Mice | Software | Sequence Analysis, DNA | DNA Copy Number Variations | Original Papers
Journal Article
Journal Article
Genome Research, ISSN 1088-9051, 10/2011, Volume 21, Issue 10, pp. 1601 - 1615
Journal Article
Clinical Cancer Research, ISSN 1078-0432, 12/2018, Volume 24, Issue 23, pp. 5873 - 5882
Purpose: Merkel cell carcinoma (MCC) is an aggressive skin cancer with neuroendocrine differentiation. There is an unmet need for MCC-specific blood-based... 
ANTIBODIES | PROSTATE | MECHANISM | BIOMARKER | ONCOLOGY | NEURON-SPECIFIC ENOLASE | LIQUID BIOPSIES | EXPRESSION PROFILES | MICRORNAS | IDENTIFICATION | CANCER | circulating cell-free miRNA | biomarker | Merkel cell carcinoma | miR-375
Journal Article
Cancer Imaging, ISSN 1470-7330, 08/2016, Volume 16, Issue 1
Pheochromocytomas (PCC) and paragangliomas (PGL) are neuroendocrine tumours arising from pluripotent neural crest stem cells and are associated with neurons of... 
Paraganglioma | Pheochromocytoma | F-18 FDG | Ga-68 DOTATATE | PET/CT | Chromaffin cells | Usage | Research | Radiopharmaceuticals
Journal Article
Journal Article