Prosser DO - Search Results

1

Genetic testing in Polynesian long QT syndrome probands reveals a lower diagnostic yield and an increased prevalence of rare variants.

Winbo A, Earle N, Marcondes L, Crawford J, Prosser DO, Love DR, Merriman TR, Cadzow M, Stiles R, Donoghue T, Stiles MK, Hayes I, Skinner JR. Winbo A, et al. Among authors: prosser do. Heart Rhythm. 2020 Aug;17(8):1304-1311. doi: 10.1016/j.hrthm.2020.03.015. Epub 2020 Mar 27. Heart Rhythm. 2020. PMID: 32229296

2

A novel glycine decarboxylase gene mutation in an Indian family with nonketotic hyperglycinemia.

Love JM, Prosser D, Love DR, Chintakindi KP, Dalal AB, Aggarwal S. Love JM, et al. J Child Neurol. 2014 Jan;29(1):122-7. doi: 10.1177/0883073812471432. Epub 2013 Jan 24. J Child Neurol. 2014. PMID: 23349517

3

Diagnostic genetics at a distance: von hippel-lindau disease and a novel mutation.

Brookes C, Prosser DO, Love JM, Gardner RJ, Love DR. Brookes C, et al. Among authors: prosser do. Genet Res Int. 2013;2013:189196. doi: 10.1155/2013/189196. Epub 2013 Aug 26. Genet Res Int. 2013. PMID: 24062953 Free PMC article.

4

Array comparative genomic hybridization identifies a heterozygous deletion of the entire KCNJ2 gene as a cause of sudden cardiac death.

Marquis-Nicholson R, Prosser DO, Love JM, Zhang L, Hayes I, George AM, Crawford JR, Skinner JR, Love DR. Marquis-Nicholson R, et al. Among authors: prosser do. Circ Cardiovasc Genet. 2014 Feb;7(1):17-22. doi: 10.1161/CIRCGENETICS.113.000415. Epub 2014 Jan 6. Circ Cardiovasc Genet. 2014. PMID: 24395924

5

Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes.

Lai S, Brookes C, Prosser DO, Lan CC, Doherty E, Love DR. Lai S, et al. Among authors: prosser do. Sultan Qaboos Univ Med J. 2015 Feb;15(1):e58-70. Epub 2015 Jan 21. Sultan Qaboos Univ Med J. 2015. PMID: 25685387 Free PMC article.

6

Array comparative genomic hybridization identifies a heterozygous deletion of exon 3 of the RYR2 gene.

Leong IU, Sucich J, Prosser DO, Skinner JR, Crawford JR, Higgins C, Love DR. Leong IU, et al. Among authors: prosser do. Ups J Med Sci. 2015;120(3):190-7. doi: 10.3109/03009734.2015.1029101. Epub 2015 Apr 2. Ups J Med Sci. 2015. PMID: 25835811 Free PMC article.

7

Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder.

Jacobsen JC, Wilson C, Cunningham V, Glamuzina E, Prosser DO, Love DR, Burgess T, Taylor J, Swan B, Hill R, Robertson SP, Snell RG, Lehnert K. Jacobsen JC, et al. Among authors: prosser do. J Inherit Metab Dis. 2016 Mar;39(2):305-8. doi: 10.1007/s10545-015-9897-6. Epub 2015 Oct 26. J Inherit Metab Dis. 2016. PMID: 26497564

8

Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.

Tang R, Prosser DO, Love DR. Tang R, et al. Among authors: prosser do. Adv Bioinformatics. 2016;2016:5614058. doi: 10.1155/2016/5614058. Epub 2016 May 24. Adv Bioinformatics. 2016. PMID: 27313609 Free PMC article.

9

SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia.

Nickerson SL, Marquis-Nicholson R, Claxton K, Ashton F, Leong IU, Prosser DO, Love JM, George AM, Taylor G, Wilson C, Gardner RJ, Love DR. Nickerson SL, et al. Among authors: prosser do. Microarrays (Basel). 2015 Oct 23;4(4):490-502. doi: 10.3390/microarrays4040490. Microarrays (Basel). 2015. PMID: 27600236 Free PMC article.

10

Gene Dosage Analysis in a Clinical Environment: Gene-Targeted Microarrays as the Platform-of-Choice.

Marquis-Nicholson R, Prosser D, Love JM, Love DR. Marquis-Nicholson R, et al. Microarrays (Basel). 2013 Mar 27;2(2):51-62. doi: 10.3390/microarrays2020051. Microarrays (Basel). 2013. PMID: 27605180 Free PMC article.

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