Damien L Bruno

Damien L Bruno

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Damien L Bruno

Damien L Bruno

Publications by authors named "Damien L Bruno"

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Diagnostic application of kidney allograft-derived absolute cell-free DNA levels during transplant dysfunction.

Am J Transplant 2019 Apr 9;19(4):1037-1049. Epub 2018 Nov 9.

Department of Nephrology, Austin Health, Melbourne, Victoria, Australia.

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http://doi.wiley.com/10.1111/ajt.15142
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http://dx.doi.org/10.1111/ajt.15142DOI Listing
April 2019

Use of ubiquitous, highly heterozygous copy number variants and digital droplet polymerase chain reaction to monitor chimerism after allogeneic haematopoietic stem cell transplantation.

Exp Hematol 2017 May 29;49:39-47.e5. Epub 2017 Jan 29.

Cyto-Molecular Diagnostic Research Group, Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0301472X173001
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http://dx.doi.org/10.1016/j.exphem.2017.01.004DOI Listing
May 2017

Maternal mosaicism for a large segmental duplication of 18q as a secondary finding following non-invasive prenatal testing and implications for test accuracy.

Prenat Diagn 2015 Oct 6;35(10):986-9. Epub 2015 Jul 6.

Victorian Clinical Genetics Services Cytogenetics Laboratory, Murdoch Childrens Research Institute, Melbourne, Australia.

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http://dx.doi.org/10.1002/pd.4636DOI Listing
October 2015

Investigating and correcting plasma DNA sequencing coverage bias to enhance aneuploidy discovery.

PLoS One 2014 29;9(1):e86993. Epub 2014 Jan 29.

Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia ; Department of Mathematics and Statistics, University of Melbourne, Melbourne, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0086993PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3906086PMC
September 2014

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.

PLoS Genet 2013 26;9(12):e1004034. Epub 2013 Dec 26.

Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia ; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia ; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1371/journal.pgen.1004034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3873243PMC
August 2014

Use of copy number deletion polymorphisms to assess DNA chimerism.

Clin Chem 2014 Aug 4;60(8):1105-14. Epub 2014 Jun 4.

Murdoch Childrens Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia;

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http://dx.doi.org/10.1373/clinchem.2013.216077DOI Listing
August 2014

Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7.

Am J Med Genet A 2010 Sep;152A(9):2342-5

Genetic Health Services Victoria, and Murdoch Children's Research Institute, Melbourne, Australia.

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http://dx.doi.org/10.1002/ajmg.a.33590DOI Listing
September 2010

Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15.

Clin Chem 2009 Jul 7;55(7):1415-8. Epub 2009 May 7.

Victorian Clinical Genetic Services and Murdoch Children's Research Institute, University of Melbourne, Department of Paediatrics, Royal Children's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1373/clinchem.2009.124958DOI Listing
July 2009

High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy.

Am J Med Genet A 2006 Dec;140(24):2786-93

Victorian Clinical Genetic Services and Murdoch Children's Research Institute, University of Melbourne, Department of Paediatrics, Royal Children's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.31552DOI Listing
December 2006

Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay.

Hum Mutat 2005 Nov;26(5):477-86

Genetic Health Services Victoria and Murdoch Children's Research Institute, Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Australia.

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http://dx.doi.org/10.1002/humu.20243DOI Listing
November 2005