Trent Burgess

Trent Burgess

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Trent Burgess

Trent Burgess

Publications by authors named "Trent Burgess"

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Molecular Support for Heterogonesis Resulting in Sesquizygotic Twinning.

N Engl J Med 2019 02;380(9):842-849

From the School of Biomedical Sciences and the Institute of Health and Biomedical Innovation, Queensland University of Technology (M.T.G.), the School of Medicine (M.T.G., J.L., R.S.), the Institute for Molecular Bioscience (G.W.M.), and the Centre for Clinical Research (N.M.F.), University of Queensland, Genetic Health Queensland (M.T.G., P.M.), the Centre for Advanced Prenatal Care (J.L., R.S., N.M.F.), and the Department of Cytogenetics (A.N.), Royal Brisbane and Women's Hospital, and QIMR Berghofer Medical Research Institute (Y.S., G.W.M.), Brisbane, the School of Medicine, Griffith University, Gold Coast, QLD (M.T.G.), Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC (T.B.), the Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC (T.B.), and the Faculty of Medicine, University of New South Wales, Sydney (N.M.F.) - all in Australia; and Li Ka Shing Institute of Health Sciences, Department of Chemical Pathology, Chinese University of Hong Kong, Hong Kong (P.J., H.Z., R.C.).

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http://dx.doi.org/10.1056/NEJMoa1701313DOI Listing
February 2019

A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature.

Clin Case Rep 2019 Feb 7;7(2):304-310. Epub 2019 Jan 7.

Department of Paediatrics The Wesley Hospital Brisbane Queensland Australia.

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http://dx.doi.org/10.1002/ccr3.1970DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389485PMC
February 2019

Maternal inheritance of BDNF deletion, with phenotype of obesity and developmental delay in mother and child.

Am J Med Genet A 2018 01 21;176(1):194-200. Epub 2017 Nov 21.

Obesity Research, Murdoch Childrens Research Institute, Parkville, Australia.

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http://dx.doi.org/10.1002/ajmg.a.38539DOI Listing
January 2018

Clinical audit of genetic testing and referral patterns for fragile X and associated conditions.

Am J Med Genet A 2016 06 18;170(6):1439-49. Epub 2016 Feb 18.

Genetics Education and Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37603DOI Listing
June 2016

Congenital Retroperitoneal Teratoma in Neurofibromatosis Type 1.

Pediatr Blood Cancer 2016 Apr 30;63(4):706-8. Epub 2015 Oct 30.

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

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http://dx.doi.org/10.1002/pbc.25812DOI Listing
April 2016

Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R.

Eur J Med Genet 2016 Apr 12;59(4):257-62. Epub 2015 Dec 12.

Genetics of Learning Disability Service, Hunter Genetics, Waratah, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.12.002DOI Listing
April 2016

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

J Inherit Metab Dis 2016 Mar 26;39(2):305-8. Epub 2015 Oct 26.

Centre for Brain Research and School of Biological Sciences, The University of Auckland, Auckland, New Zealand.

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http://dx.doi.org/10.1007/s10545-015-9897-6DOI Listing
March 2016

Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1.

Am J Med Genet A 2016 Mar 21;170(3):717-24. Epub 2015 Nov 21.

Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37478DOI Listing
March 2016

Syndrome diagnosis with single-nucleotide polymorphism (SNP) microarray.

J Paediatr Child Health 2016 Jan 30;52(1):85-9. Epub 2015 Jul 30.

Department of Paediatrics, University of Western Sydney School of Medicine, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/jpc.12981DOI Listing
January 2016

SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.

Am J Med Genet A 2015 Oct 8;167A(10):2319-26. Epub 2015 Jun 8.

Newborn Intensive Care Unit, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37177DOI Listing
October 2015

White matter changes in patients with Parkinson's disease carrying small CGG expansion FMR1 alleles: a pilot study.

Neurodegener Dis 2014 24;14(2):67-76. Epub 2013 Dec 24.

MRI Centre, St. Vincent's Hospital Melbourne, Fitzroy, Vic., Australia.

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http://dx.doi.org/10.1159/000356190DOI Listing
May 2015

Copy-number variation associated with congenital anomalies of the kidney and urinary tract.

Pediatr Nephrol 2015 Mar 1;30(3):487-95. Epub 2014 Oct 1.

Department of Anatomy and Developmental Biology, Monash University, Clayton, VIC, Australia,

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http://dx.doi.org/10.1007/s00467-014-2962-9DOI Listing
March 2015

A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development.

Mol Syndromol 2014 Dec 8;5(6):276-86. Epub 2014 Nov 8.

Murdoch Childrens Research Institute, Department of Plastic and Maxillofacial Surgery, Royal Children's Hospital, Parkville, Vic., Australia ; Department of Paediatrics, University of Melbourne, Parkville, Vic., Australia.

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http://dx.doi.org/10.1159/000368865DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4281577PMC
December 2014

The prevalence of turner syndrome in girls presenting with coarctation of the aorta.

J Pediatr 2014 Feb 27;164(2):259-63. Epub 2013 Oct 27.

Department of Endocrinology, The Royal Children's Hospital, Melbourne, Australia; Center for Hormone Research, Murdoch Childrens Research Institute, Melbourne, Australia; Department of Pediatrics, University of Melbourne, Melbourne, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2013.09.031DOI Listing
February 2014

FOXP1 mutations cause intellectual disability and a recognizable phenotype.

Am J Med Genet A 2013 Dec 24;161A(12):3166-75. Epub 2013 Sep 24.

Hunter Genetics, Newcastle, NSW, Australia; John Hunter Children's Hospital, Newcastle, NSW, Australia.

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http://dx.doi.org/10.1002/ajmg.a.36174DOI Listing
December 2013

5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases.

Am J Med Genet A 2013 Oct 15;161A(10):2604-8. Epub 2013 Aug 15.

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

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http://dx.doi.org/10.1002/ajmg.a.36108DOI Listing
October 2013

Neonatal presentation of chromosome 9q33.2-q34.3 duplication.

Gene 2013 Sep 4;527(2):541-4. Epub 2013 Jul 4.

Monash Newborn, Monash Children's, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.gene.2013.06.043DOI Listing
September 2013

Phenotype in novel Xp duplication.

Am J Med Genet A 2012 Sep 7;158A(9):2342-6. Epub 2012 Aug 7.

Genetic Medicine, Royal Melbourne Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.35538DOI Listing
September 2012

Questionable pathogenicity of FOXG1 duplication.

Eur J Hum Genet 2012 Jun 18;20(6):595-6; author reply 596-7. Epub 2012 Jan 18.

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http://dx.doi.org/10.1038/ejhg.2011.267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3355262PMC
June 2012

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

Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.

Hum Mol Genet 2010 Apr 29;19(8):1618-32. Epub 2010 Jan 29.

Chromosome and Chromatin Research Laboratory, The Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Victoria 3052, Australia.

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http://dx.doi.org/10.1093/hmg/ddq037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2846165PMC
April 2010

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

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

A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study.

Genet Med 2008 Jul;10(7):525-35

Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Rd, Parkville, VIC 3052, Australia.

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http://dx.doi.org/10.1097/gim.0b013e31817c036eDOI Listing
July 2008

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

Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method.

Hum Mutat 2004 Aug;24(2):164-71

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

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http://doi.wiley.com/10.1002/humu.20072
Publisher Site
http://dx.doi.org/10.1002/humu.20072DOI Listing
August 2004