Desiree du Sart

Desiree du Sart

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Desiree du Sart

Desiree du Sart

Publications by authors named "Desiree du Sart"

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27Publications

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FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.

Genet Med 2018 12 29;20(12):1627-1634. Epub 2018 Mar 29.

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/10.1038/gim.2018.52DOI Listing
December 2018

ADGRV1 is implicated in myoclonic epilepsy.

Epilepsia 2018 02 20;59(2):381-388. Epub 2017 Dec 20.

Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, Vic., Australia.

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http://doi.wiley.com/10.1111/epi.13980
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http://dx.doi.org/10.1111/epi.13980DOI Listing
February 2018

Erratum: Hwang Y.T. et al. Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia. Genes 2016, 7, 68.

Genes (Basel) 2017 01 24;8(2). Epub 2017 Jan 24.

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

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http://dx.doi.org/10.3390/genes8020047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5333036PMC
January 2017

A Prospective Study of Sudden Cardiac Death among Children and Young Adults.

N Engl J Med 2016 Jun;374(25):2441-52

From the Agnes Ginges Center for Molecular Cardiology, Centenary Institute, University of Sydney (R.D.B., J.I., L.Y., L.L., C.S.), Sydney Medical School, University of Sydney (R.D.B., J.I., J.D., R.P., C.S.), Department of Forensic Medicine, NSW Health Pathology (J.D.), and Department of Cardiology, Royal Prince Alfred Hospital (J.I., L.Y., R.P., C.S.), Sydney, the Department of Cardiology, Royal Children's Hospital, Murdoch Children's Research Institute and University of Melbourne (R.G.W., A.M.D., V.C., D.S.), Departments of Pediatrics (A.M.D.) and Pathology (P.J.), University of Melbourne, Genetic Medicine, Royal Melbourne Hospital (T.T., P.J., J.V., I.W.), Department of Medicine, Royal Melbourne Hospital, University of Melbourne (J.V., I.W.), and Victorian Institute of Forensic Medicine (M.L., N.M.), Melbourne, VIC, Forensic and Scientific Services, Archerfield, QL (J.W., C.N.), University of Queensland (J.W., C.N.), and Royal Brisbane and Women's Hospital (J.A., J.M.), Brisbane, QL, Department of Forensic Pathology, PathWest, Fremantle, WA (J.W.), ACT Pathology, Canberra Hospital, Canberra, ACT (L.H.), Royal Hobart Hospital, University of Tasmania, Hobart, TAS (C.L.), and the Attorney General's Department, University of Adelaide, Adelaide, SA (N.L.) - all in Australia; and Green Lane Pediatric and Congenital Cardiac Services, Starship Children's Hospital (J.C., J.R.S.), LabPLUS, Auckland City Hospital (D.L.), and the Department of Child Health, University of Auckland (J.R.S.), Auckland, New Zealand.

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http://dx.doi.org/10.1056/NEJMoa1510687DOI Listing
June 2016

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

A comprehensive evaluation of myocardial fibrosis in hypertrophic cardiomyopathy with cardiac magnetic resonance imaging: linking genotype with fibrotic phenotype.

Eur Heart J Cardiovasc Imaging 2014 Oct 12;15(10):1108-16. Epub 2014 May 12.

Heart Centre, Alfred Hospital, Melbourne, Australia Baker IDI Heart and Diabetes Institute, Melbourne, Australia

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http://dx.doi.org/10.1093/ehjci/jeu077DOI Listing
October 2014

Population-based genetic carrier screening for cystic fibrosis in Victoria.

Med J Aust 2014 Mar;200(4):205-6

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

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http://dx.doi.org/10.5694/mja13.10864DOI Listing
March 2014

A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms.

Mitochondrion 2013 Nov 22;13(6):656-61. Epub 2013 Sep 22.

Department of Pediatrics, University of Colorado, 13121 East 17th Avenue, Aurora, CO 80045, USA; Division of Pediatric Neurology, Oregon Health Sciences Center, 3181 SW Sam Jackson Park Rd, Portland, OR 97239, USA.

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http://dx.doi.org/10.1016/j.mito.2013.09.004DOI Listing
November 2013

Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics.

Arch Pathol Lab Med 2013 Jul;137(7):983-8

Laboratory Research and Evaluation Branch, Division of Laboratory Science and Standards, Office of Surveillance, Epidemiology, and Laboratory Services, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA.

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http://dx.doi.org/10.5858/arpa.2012-0311-RADOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4684176PMC
July 2013

Pathophysiological insights derived by natural history and motor function of spinal muscular atrophy.

J Pediatr 2013 Jan 17;162(1):155-9. Epub 2012 Jul 17.

Neurosciences Research Australia, Randwick, Sydney, Australia.

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http://dx.doi.org/10.1016/j.jpeds.2012.05.067DOI Listing
January 2013

A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype.

Neurogenetics 2011 Nov 10;12(4):307-13. Epub 2011 Aug 10.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Flemington Road, Parkville, Victoria 3052, Australia.

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http://link.springer.com/10.1007/s10048-011-0296-3
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http://dx.doi.org/10.1007/s10048-011-0296-3DOI Listing
November 2011

Premature arthritis is a distinct type II collagen phenotype.

Arthritis Rheum 2010 May;62(5):1421-30

Murdoch Childrens Research Institute, University of Melbourne, and Genetic Health Services Victoria, Parkville, Melbourne, Australia.

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http://dx.doi.org/10.1002/art.27354DOI Listing
May 2010

Population screening and cascade testing for carriers of SMA.

Eur J Hum Genet 2007 Jul 28;15(7):759-66. Epub 2007 Mar 28.

Molecular Genetics Laboratory, Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1038/sj.ejhg.5201821DOI Listing
July 2007

Detection of mutations in genes associated with hearing loss using a microarray-based approach.

J Mol Diagn 2006 Sep;8(4):483-9; quiz 528

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1867613PMC
http://dx.doi.org/10.2353/jmoldx.2006.050147DOI Listing
September 2006

Identification of APC gene mutations in colorectal cancer using universal microarray-based combinatorial sequencing-by-hybridization.

Hum Mutat 2004 Sep;24(3):261-71

Center for Translational Medicine, Department of Medicine, Thomas Jefferson University, Jefferson Medical College, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/humu.20078DOI Listing
September 2004

APC gene and familial adenomatous polyposis.

Authors:
Desirée du Sart

J Gastroenterol Hepatol 2004 May;19(5):598

Murdoch Children's Research Institute, Molecular Genetics Laboratory, Victorian Clinical Genetic Services, Royal Children's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1111/j.1440-1746.2004.03480.xDOI Listing
May 2004

A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation.

Gastroenterology 2002 Mar;122(3):646-51

Queensland Institute of Medical Research and The University of Queensland, Brisbane, Western Australia.

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http://dx.doi.org/10.1016/s0016-5085(02)80116-0DOI Listing
March 2002