Publications by authors named "George McGillivray"

53Publications

Polymicrogyria associated with 17p13.3p13.2 duplication: Case report and review of the literature.

Eur J Med Genet 2020 Apr 1;63(4):103774. Epub 2019 Oct 1.

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

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http://dx.doi.org/10.1016/j.ejmg.2019.103774DOI Listing
April 2020

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

J Hum Genet 2019 Dec 17;64(12):1173-1186. Epub 2019 Sep 17.

Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-019-0667-4DOI Listing
December 2019

A Roberts Syndrome Individual With Differential Genotoxin Sensitivity and a DNA Damage Response Defect.

Int J Radiat Oncol Biol Phys 2019 04 30;103(5):1194-1202. Epub 2018 Nov 30.

Cancer Research Division, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia; Clinical Pathology, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Parkville, Victoria, Australia; College of Life Sciences, Shanxi Normal University, Linfen, Shanxi, China. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03603016183404
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http://dx.doi.org/10.1016/j.ijrobp.2018.11.047DOI Listing
April 2019

Contemporary prenatal aneuploidy screening practice in Australia: Frequently asked questions in the cell-free DNA era.

Aust N Z J Obstet Gynaecol 2018 08 13;58(4):397-403. Epub 2018 Jun 13.

Mercy Perinatal, Mercy Hospital for Women, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/ajo.12834DOI Listing
August 2018

Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway.

Eur J Med Genet 2018 Dec 5;61(12):738-740. Epub 2018 Jun 5.

Department of Neurology, Royal Children's Hospital, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.ejmg.2018.06.002DOI Listing
December 2018

X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease.

Child Neurol Open 2017 Jan-Dec;4:2329048X17738625. Epub 2017 Nov 7.

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

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http://dx.doi.org/10.1177/2329048X17738625DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5680935PMC
November 2017

Right-sided aortic arch in the age of microarray.

Prenat Diagn 2017 May 12;37(5):440-445. Epub 2017 Mar 12.

Royal Women's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1002/pd.5029DOI Listing
May 2017

A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.

Am J Med Genet A 2017 03 7;173(3):820-823. Epub 2017 Feb 7.

Bruce Lefroy Centre For Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.38076DOI Listing
March 2017

First report of congenital adrenal cysts and pheochromocytoma in a patient with mosaic genome-wide paternal uniparental disomy.

Am J Med Genet A 2016 Dec 12;170(12):3352-3355. Epub 2016 Oct 12.

The Department of Endocrinology and Diabetes, The Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37959DOI Listing
December 2016

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss.

Neurol Genet 2015 Aug 16;1(2):e16. Epub 2015 Jul 16.

Bruce Lefroy Centre for Genetic Health Research (A.P.L.M., K.P., E.M.Y., J.C.H.S., M.B.D., P.J.L.), Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Australia; Bioinformatics Division (V.L., C.B., R.T., M.B.), The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia; Department of Neurology (M.M.R., E.M.Y., R.J.L.) and Department of Paediatrics (A.P.L.M., M.M.R., E.M.Y., M.B.D., D.J.A., R.J.L., P.J.L.), The University of Melbourne, Royal Children's Hospital, Parkville, Australia; Victorian Clinical Genetics Services (D.J.A., G.M.) and Neuroscience Research (M.M.R., R.J.L.), Murdoch Childrens Research Institute, Parkville, Australia; Department of Neurology (E.H.S.), UCSF Benioff Children's Hospital, San Francisco, CA; Clinical Genetics (M.B.D.), Austin Health, Heidelberg, Australia; and Department of Mathematics and Statistics (M.B.) and Department of Medical Biology (R.T., M.B.), The University of Melbourne, Parkville, Australia.

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http://dx.doi.org/10.1212/NXG.0000000000000014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4807911PMC
August 2015

Preventing female virilisation in congenital adrenal hyperplasia: The controversial role of antenatal dexamethasone.

Aust N Z J Obstet Gynaecol 2016 Jun 10;56(3):225-32. Epub 2015 Dec 10.

Department of Perinatal Medicine, Mercy Hospital for Women, Melbourne, Vic., Australia.

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http://dx.doi.org/10.1111/ajo.12423DOI Listing
June 2016

Severe connective tissue laxity including aortic dilatation in Sotos syndrome.

Am J Med Genet A 2016 Feb 27;170A(2):531-535. Epub 2015 Nov 27.

Care4Rare Canada Consortium, Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37402DOI Listing
February 2016

Fetal phenotype of 17q12 microdeletion syndrome: renal echogenicity and congenital diaphragmatic hernia in 2 cases.

Prenat Diagn 2015 Dec 14;35(12):1265-7. Epub 2015 Oct 14.

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

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http://dx.doi.org/10.1002/pd.4690DOI Listing
December 2015

Apert syndrome: temporal lobe abnormalities on fetal brain imaging.

Prenat Diagn 2015 Feb 13;35(2):179-82. Epub 2014 Nov 13.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; Fetal Medicine Unit, Royal Women's Hospital, Melbourne, Australia; Maternal Fetal Medicine, Sunshine Hospital, Western Health, Melbourne, Australia.

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http://dx.doi.org/10.1002/pd.4515DOI Listing
February 2015

Managing fetuses at high risk of retinoblastoma: lesion detection on screening MRI.

Prenat Diagn 2015 Feb 27;35(2):174-8. Epub 2014 Nov 27.

The Royal Children's Hospital, Melbourne, Victoria, Australia; Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1002/pd.4514DOI Listing
February 2015

High-resolution microarray in the assessment of fetal anomalies detected by ultrasound.

Aust N Z J Obstet Gynaecol 2014 Feb;54(1):46-52

Pauline Gandel Imaging Centre, Royal Women's Hospital, Parkville, Victoria, Australia; Fetal Medicine Unit, Royal Women's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1111/ajo.12170DOI Listing
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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http://dx.doi.org/10.1002/ajmg.a.36108DOI Listing
October 2013

Ethical controversies in prenatal microarray.

Curr Opin Obstet Gynecol 2013 Apr;25(2):133-7

Victorian Clinical Genetics Service and Murdoch Children's Research Institute, Victoria, Australia.

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http://dx.doi.org/10.1097/GCO.0b013e32835ebb67DOI Listing
April 2013

Association of severe autosomal recessive osteopetrosis and structural brain abnormalities: a case report and review of the literature.

Eur J Med Genet 2013 Jan 17;56(1):36-8. Epub 2012 Oct 17.

Victorian Clinical Genetics Service, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.ejmg.2012.10.001DOI Listing
January 2013

Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing.

Prenat Diagn 2012 Apr;32(4):389-95

Royal Women's Hospital, Melbourne, Victoria, Australia; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://doi.wiley.com/10.1002/pd.3849
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http://dx.doi.org/10.1002/pd.3849DOI Listing
April 2012

Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes.

Genome Biol 2011 Sep 14;12(9):R85. Epub 2011 Sep 14.

Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3052, Australia.

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http://dx.doi.org/10.1186/gb-2011-12-9-r85DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3308048PMC
September 2011

Perinatal outcome following suspected fetal abnormality when managed through a fetal management unit.

Prenat Diagn 2010 Feb;30(2):149-55

Public Health Genetics, Murdoch Childrens Research Institute, Melbourne, Australia.

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http://doi.wiley.com/10.1002/pd.2431
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http://dx.doi.org/10.1002/pd.2431DOI Listing
February 2010

The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: two new reports.

Am J Med Genet A 2008 Jan;146A(2):137-48

Department of Clinical Genetics, Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, Australia.

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http://dx.doi.org/10.1002/ajmg.a.32172DOI Listing
January 2008

Distinctive collection of fetal anomalies: cleft lip and palate, multicystic dysplastic kidneys, 1-2 syndactyly, heterotopic olivary tissue and thymic hypoplasia.

Clin Dysmorphol 2006 Apr;15(2):101-5

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

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http://dx.doi.org/10.1097/01.mcd.0000198928.86458.81DOI Listing
April 2006

Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability.

Clin Dysmorphol 2006 Apr;15(2):95-9

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

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http://dx.doi.org/10.1097/01.mcd.0000203633.86190.2dDOI Listing
April 2006

Prenatal magnetic resonance imaging in Gomez-Lopez-Hernandez syndrome and review of the literature.

Am J Med Genet A 2005 Nov;138(4):369-73

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

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http://dx.doi.org/10.1002/ajmg.a.30967DOI Listing
November 2005

Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location.

Am J Med Genet A 2005 Jun;135(3):324-7

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

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http://dx.doi.org/10.1002/ajmg.a.30754DOI Listing
June 2005