Array-Based Identification of Copy Number Changes in a Diagnostic Setting: Simultaneous Gene - Focused and Low Resolution Whole Human Genome Analysis
Marquis-Nicholson , Renate, Doherty , Elaine, Love , Jennifer M, Lan , Chuan-Ching, Love , Donald R, George , Alice M, Thrush , Anthony
Published in Sultan Qaboos University medical journal (01.02.2013)
Published in Sultan Qaboos University medical journal (01.02.2013)
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Journal Article
AmpliVar: Mutation Detection in High-Throughput Sequence from Amplicon-Based Libraries
Hsu, Arthur L., Kondrashova, Olga, Lunke, Sebastian, Love, Clare J., Meldrum, Cliff, Marquis-Nicholson, Renate, Corboy, Greg, Pham, Kym, Wakefield, Matthew, Waring, Paul M., Taylor, Graham R.
Published in Human mutation (01.04.2015)
Published in Human mutation (01.04.2015)
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Journal Article
Citrullinaemia type I: A common mutation in the Pacific Island population
Glamuzina, Emma, Marquis-Nicholson, Renate, Knoll, Detlef, Love, Donald R, Wilson, Callum
Published in Journal of paediatrics and child health (01.05.2011)
Published in Journal of paediatrics and child health (01.05.2011)
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Journal Article
A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities
Singh, Shalinder, Ashton, Fern, Marquis-Nicholson, Renate, Love, Jennifer M., Lan, Chuan-Ching, Aftimos, Salim, George, Alice M., Love, Donald R.
Published in Case reports in pediatrics (01.01.2012)
Published in Case reports in pediatrics (01.01.2012)
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Journal Article
The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry
Roxburgh, Richard H., Marquis-Nicholson, Renate, Ashton, Fern, George, Alice M., Lea, Rod A., Eccles, David, Mossman, Stuart, Bird, Thomas, van Gassen, Koen L., Kamsteeg, Erik-Jan, Love, Donald R.
Published in Journal of neurology (01.05.2013)
Published in Journal of neurology (01.05.2013)
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Journal Article
SNP analysis and whole exome sequencing: Their application in the analysis of a consanguineous pedigree segregating ataxia
Nickerson, Sarah L., Marquis-Nicholson, Renate, Claxton, Karen, Ashton, Fern, Leong, Ivone U.S., Prosser, Debra O., Love, Jennifer M., George, Alice M., Taylor, Graham, Wilson, Callum, McKinlay Gardner, R.J., Love, Donald R.
Published in Pathology (01.02.2016)
Published in Pathology (01.02.2016)
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Journal Article
Pseudotrisomy 13 syndrome: Use of homozygosity mapping to target candidate genes
Marquis-Nicholson, Renate, Aftimos, Salim, Ashton, Fern, Love, Jennifer M., Stone, Peter, McFarlane, Jeannette, George, Alice M., Love, Donald R.
Published in Gene (15.10.2011)
Published in Gene (15.10.2011)
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Journal Article
Citrullinemia type I: A common mutation in the Pacific Island population
Glamuzina, Emma, Marquis-Nicholson, Renate, Knoll, Detlef, Love, Donald R, Wilson, Callum
Published in Journal of paediatrics and child health (01.05.2011)
Published in Journal of paediatrics and child health (01.05.2011)
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Journal Article
Indolent medullary thyroid cancer with a RET proto-oncogene Cys618Phe mutation presenting as sporadic unilateral pheochromocytoma in a 55-year-old Korean woman
Kim, David D W, Croxson, Michael S, Cranshaw, Isaac M, Evans, Jane L, Marquis-Nicholson, Renate, Love, Donald R
Published in Thyroid (New York, N.Y.) (01.03.2011)
Published in Thyroid (New York, N.Y.) (01.03.2011)
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Journal Article
Array comparative genomic hybridisation : a new tool in the diagnostic genetic armoury
Marquis-Nicholson, Renate, Aftimos, Salim, Hayes, Ian, George, Alice, Love, Donald R
Published in New Zealand medical journal (16.07.2010)
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Published in New Zealand medical journal (16.07.2010)
Journal Article
A Streamlined Protocol for Molecular Testing of the DMD Gene within a Diagnostic Laboratory: A Combination of Array Comparative Genomic Hybridization and Bidirectional Sequence Analysis
Marquis-Nicholson, Renate, Lai, Daniel, Lan, Chuan-Ching, Love, Jennifer M., Love, Donald R.
Published in ISRN neurology (2013)
Published in ISRN neurology (2013)
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Journal Article
Gene Dosage Analysis in a Clinical Environment: Gene-Targeted Microarrays as the Platform-of-Choice
Marquis-Nicholson, Renate, Prosser, Debra, Love, Jennifer M, Love, Donald R
Published in Biotech (Basel) (27.03.2013)
Published in Biotech (Basel) (27.03.2013)
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Journal Article
SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia
Nickerson, Sarah L, Marquis-Nicholson, Renate, Claxton, Karen, Ashton, Fern, Leong, Ivone U S, Prosser, Debra O, Love, Jennifer M, George, Alice M, Taylor, Graham, Wilson, Callum, Gardner, R J McKinlay, Love, Donald R
Published in Microarrays (Basel, Switzerland) (23.10.2015)
Published in Microarrays (Basel, Switzerland) (23.10.2015)
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Journal Article
SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia
Nickerson, Sarah L, Marquis-Nicholson, Renate, Claxton, Karen, Ashton, Fern, Leong, Ivone U S, Prosser, Debra O, Love, Jennifer M, George, Alice M, Taylor, Graham, Wilson, Callum, Gardner, R J McKinlay, Love, Donald R
Published in Microarrays (Basel, Switzerland) (23.10.2015)
Published in Microarrays (Basel, Switzerland) (23.10.2015)
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