Publications by authors named "Trent Burgess"

40Publications

Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations.

Genet Med 2020 Dec 18;22(12):1944-1955. Epub 2020 Aug 18.

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

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December 2020

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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February 2019

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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February 2019

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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June 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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April 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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March 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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April 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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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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October 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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December 2014

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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March 2015

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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December 2013

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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February 2014

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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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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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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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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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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September 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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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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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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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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August 2004