Howard R Slater

Howard R Slater

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Howard R Slater

Howard R Slater

Publications by authors named "Howard R Slater"

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43Publications

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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

β-glucuronidase use as a single internal control gene may confound analysis in FMR1 mRNA toxicity studies.

PLoS One 2018 23;13(2):e0192151. Epub 2018 Feb 23.

Cyto-molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0192151PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5825026PMC
March 2018

Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis.

Clin Chem 2016 Feb 29;62(2):343-52. Epub 2015 Dec 29.

Cyto-molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia;

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http://dx.doi.org/10.1373/clinchem.2015.244681DOI Listing
February 2016

Prenatal diagnosis of fragile X syndrome complicated by full mutation retraction.

Am J Med Genet A 2015 Oct 18;167A(10):2485-7. Epub 2015 May 18.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Melbourne, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37163DOI Listing
October 2015

Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis.

Expert Rev Mol Med 2015 Jul 1;17:e13. Epub 2015 Jul 1.

Cyto-molecular Diagnostic Research Laboratory,Victorian Clinical Genetics Services and Murdoch Children's Research Institute,Royal Children's Hospital,Melbourne,Victoria,3052,Australia.

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http://dx.doi.org/10.1017/erm.2015.11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4836209PMC
July 2015

Detection of segmental chromosome copy number gains by improved fluorescence in situ hybridization techniques.

J Assoc Genet Technol 2015 ;41(1):5-11

ANU Medical School, Australian National University, Canberra ACT 0200, Australia ACT Pathology, The Canberra Hospital, Canberra ACT, Australia.

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June 2015

Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women.

Neurology 2015 Apr 25;84(16):1631-8. Epub 2015 Mar 25.

From the School of Psychological Sciences, Faculty of Medicine, Nursing and Health Sciences (K.M.C., C.M.K., M.A.B.), and the Centre for Developmental Disability Health Victoria (J.C.), Monash University, Clayton; the Centre for Epidemiology and Biostatistics (Q.M.B.), Melbourne School of Population and Global Health, University of Melbourne; Genetics Education and Health Research (S.A.M., A.D.A., E.T.), the Cytomolecular Diagnostic Research Laboratory (H.R.S., Y.I., X.L., D.E.G.) and Victorian Clinical Genetics Services (A.D.A.), Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Melbourne; the Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences (S.A.M., A.D.A., E.T.), The University of Melbourne, Parkville; the Department of Developmental Disability Neuropsychiatry and Centre for Healthy Brain Ageing (J.N.T.), UNSW Australia, Sydney; Olga Tennison Autism Research Centre (D.R.H.), School of Psychological Science, La Trobe, Bundoora; and Fragile X Alliance Inc. (Clinic) (J.C.), North Caufield, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000001496DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4409583PMC
April 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

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

Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots.

Clin Chem 2014 Jul 28;60(7):963-73. Epub 2014 Apr 28.

Cyto-molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia;

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http://dx.doi.org/10.1373/clinchem.2013.217331DOI Listing
July 2014

Methylation analysis in newborn screening for fragile X syndrome.

JAMA Neurol 2014 Jun;71(6):800

The Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne/Parkville, Victoria, Australia.

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http://dx.doi.org/10.1001/jamaneurol.2014.142DOI Listing
June 2014

FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles.

J Mol Diagn 2011 Sep 30;13(5):528-36. Epub 2011 Jun 30.

Victorian Clinical Genetic Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.jmoldx.2011.05.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157613PMC
September 2011

4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment.

Eur J Med Genet 2009 Nov-Dec;52(6):440-2. Epub 2009 Sep 20.

Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.ejmg.2009.09.004DOI Listing
February 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

Improved methodology for assessment of mRNA levels in blood of patients with FMR1 related disorders.

BMC Clin Pathol 2009 Jun 9;9. Epub 2009 Jun 9.

Chromosome and Chromatin Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1186/1472-6890-9-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2708186PMC
June 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

Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndrome.

Am J Med Genet A 2006 Sep;140(18):1955-9

Genetic Health Services Victoria, 10th Floor Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1002/ajmg.a.31411DOI Listing
September 2006

A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome.

Am J Med Genet A 2005 Dec;139(3):216-20

Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1002/ajmg.a.31013DOI Listing
December 2005

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

High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs.

Am J Hum Genet 2005 Nov 16;77(5):709-26. Epub 2005 Sep 16.

Genetic Health Cytogenetics Laboratory, Royal Children's Hospital, Parkville, Victoria 3052, Australia.

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http://dx.doi.org/10.1086/497343DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1271402PMC
November 2005

BAC-based PCR fragment microarray: high-resolution detection of chromosomal deletion and duplication breakpoints.

Hum Mutat 2005 May;25(5):476-82

Murdoch Childrens Research Institute, University of Melbourne, Royal Children's Hospital, Parkville, Australia.

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http://dx.doi.org/10.1002/humu.20164DOI Listing
May 2005

Molecular distinction between true centric fission and pericentric duplication-fission.

Hum Genet 2005 Mar 27;116(4):300-10. Epub 2005 Jan 27.

Chromosome Research Laboratory, Murdoch Childrens Research Institute and Department of Paediatrics, Royal Children's Hospital, Parkville, VIC, 3052, Australia.

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http://dx.doi.org/10.1007/s00439-004-1209-4DOI Listing
March 2005

Centric fission--simple and complex mechanisms.

Chromosome Res 2004 ;12(6):627-40

Murdoch Childrens Research Institute, Royal Children's Hospital, Parkwille, Vic 3052, Australia.

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http://dx.doi.org/10.1023/B:CHRO.0000036594.38997.59DOI Listing
February 2005

Pericentromeric euchromatin is conserved in minute human supernumerary chromosomes: a study using cross-species colour segmenting (RxFISH).

Chromosome Res 2003 ;11(4):359-63

Genetic Health Services Victoria, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville 3052, Australia.

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March 2004