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Expert Review of Molecular Diagnostics Volume 13, 2013 - Issue 1
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Theme: Emerging Molecular Diagnostic Technologies - Review

Detection and interpretation of genomic structural variation in health and disease

Geert Vandeweyer Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
&
R Frank Kooy Department of Medical Genetics, University of Antwerp, Antwerp, Belgium. [email protected]
Pages 61-82 | Published online: 09 Jan 2014

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Hanne Valgaeren, Carina Koppen & Guy Van Camp. (2018) A new perspective on the genetics of keratoconus: why have we not been more successful?. Ophthalmic Genetics 39:2, pages 158-174.
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Articles from other publishers (11)

Zhengwei Li, Qingzeng Sun & Yingchun Shi. (2022) Somatic structural variations in pediatric brain tumors. Minerva Pediatrics 74:3.
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Ji Yoon Han, Woori Jang, Joonhong Park, Myungshin Kim, Yonggoo Kim & In Goo Lee. (2018) Diagnostic approach with genetic tests for global developmental delay and/or intellectual disability: Single tertiary center experience. Annals of Human Genetics 83:3, pages 115-123.
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Meenakshi Mehrotra, Rajyalakshmi Luthra, Ronald Abraham, Bal Mukund Mishra, Shumaila Virani, Hui Chen, Mark J. Routbort, Keyur P. Patel, L. Jeffrey Medeiros & Rajesh R. Singh. (2017) Validation of quantitative PCR-based assays for detection of gene copy number aberrations in formalin-fixed, paraffin embedded solid tumor samples. Cancer Genetics 212-213, pages 24-31.
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Joachim Kutzera & Patrick May. 2017. Data Integration in the Life Sciences. Data Integration in the Life Sciences 22 28 .
Meenakshi Mehrotra. 2016. Clinical Applications of PCR. Clinical Applications of PCR 27 32 .
Jose Luis Royo, Mariona Pascual-Pons, Arantxa Lupiañez, Isabel Sanchez-López & Joan Fibla. (2015) Genotyping of common SIRPB1 copy number variant using Paralogue Ratio Test coupled to MALDI-MS quantification. Molecular and Cellular Probes 29:6, pages 517-521.
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C. Helsmoortel, G. Vandeweyer, P. Ordoukhanian, F. Van Nieuwerburgh, N. Van der Aa & R.F. Kooy. (2015) Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing. Clinical Genetics 88:2, pages 140-148.
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Geert Vandeweyer, Lut Van Laer, Bart Loeys, Tim Van den Bulcke & R Frank Kooy. (2014) VariantDB: a flexible annotation and filtering portal for next generation sequencing data. Genome Medicine 6:10.
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Scott Boyd, Stephen Galli, Iris Schrijver, James Zehnder, Euan Ashley & Jason Merker. (2014) A Balanced Look at the Implications of Genomic (and Other “Omics”) Testing for Disease Diagnosis and Clinical Care. Genes 5:3, pages 748-766.
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Jorge Muñoz-Minjares, Yuriy S. Shmaliy & Jesús Cabal-Aragón. (2014) Confidence limits for genome DNA copy number variations in HR-CGH array measurements. Biomedical Signal Processing and Control 10, pages 166-173.
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Philip Ginsbach, Bowang Chen, Yanxiang Jiang, Stefan Engelter & Caspar Grond-Ginsbach. (2013) Copy Number Studies in Noisy Samples. Microarrays 2:4, pages 284-303.
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