Julie McGaughran

Julie McGaughran

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Julie McGaughran

Publications by authors named "Julie McGaughran"

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Hypertrophic Cardiomyopathy: Challenging the Status Quo?

Heart Lung Circ 2019 Dec 27. Epub 2019 Dec 27.

Department of Cardiology, Royal Brisbane and Women's Hospital, Brisbane, Qld, Australia; Faculty of Medicine, University of Queensland, Brisbane, Qld, Australia; Faculty of Science, Health, Education and Engineering, University of Sunshine Coast, Brisbane, Qld, Australia; Faculty of Health, Queensland University of Technology, Brisbane, Qld, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.hlc.2019.12.005DOI Listing
December 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 03 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

Psychosocial Implications of Living with Catecholaminergic Polymorphic Ventricular Tachycardia in Adulthood.

J Genet Couns 2018 06 23;27(3):549-557. Epub 2017 Sep 23.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Locked Bag 6, Newtown, NSW, 2042, Australia.

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http://dx.doi.org/10.1007/s10897-017-0152-1DOI Listing
June 2018

Impact of the implantable cardioverter defibrillator on confidence to undertake physical activity in inherited heart disease: A cross-sectional study.

Eur J Cardiovasc Nurs 2017 Dec 14;16(8):742-752. Epub 2017 Jun 14.

1 Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia.

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http://dx.doi.org/10.1177/1474515117715760DOI Listing
December 2017

Position Statement on the Diagnosis and Management of Familial Dilated Cardiomyopathy.

Heart Lung Circ 2017 Nov 7;26(11):1127-1132. Epub 2017 Jun 7.

University of Queensland, Brisbane, Qld, Australia; Department of Cardiology, Royal Brisbane and Women's Hospital, Brisbane, Qld, Australia.

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http://dx.doi.org/10.1016/j.hlc.2017.04.021DOI Listing
November 2017

Clinical and genetic features of Australian families with long QT syndrome: A registry-based study.

J Arrhythm 2016 Dec 15;32(6):456-461. Epub 2016 Mar 15.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia; School of Medicine, University of Sydney, Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia.

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http://dx.doi.org/10.1016/j.joa.2016.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5129121PMC
December 2016

Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome.

Am J Med Genet A 2016 10 27;170(10):2694-7. Epub 2016 Jun 27.

Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37803DOI Listing
October 2016

A balanced paternal interchromosomal reciprocal insertion between 5q12.1q13.2 and 20p12.3p12.1 resulting in separate genetic conditions in two siblings.

Am J Med Genet A 2016 Jul 9;170(7):1930-3. Epub 2016 May 9.

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

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http://dx.doi.org/10.1002/ajmg.a.37689DOI Listing
July 2016

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

Factors influencing uptake of familial long QT syndrome genetic testing.

Am J Med Genet A 2016 Feb 6;170A(2):418-425. Epub 2015 Nov 6.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37455DOI Listing
February 2016

A multidisciplinary renal genetics clinic improves patient diagnosis.

Med J Aust 2016 Feb;204(2):58-9

Royal Brisbane and Women's Hospital, Brisbane, QLD.

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http://dx.doi.org/10.5694/mja15.01157DOI Listing
February 2016

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.

Nat Genet 2015 Jan 24;47(1):73-7. Epub 2014 Nov 24.

1] Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia. [2] Department of Integrated Systems Biology, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA. [3] Department of Pediatrics, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA. [4] Illumina, Inc., San Diego, California, USA.

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http://www.nature.com/articles/ng.3153
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http://dx.doi.org/10.1038/ng.3153DOI Listing
January 2015

Delay to diagnosis amongst patients with catecholaminergic polymorphic ventricular tachycardia.

Int J Cardiol 2014 Oct 8;176(3):1402-4. Epub 2014 Aug 8.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Newtown, Australia; Sydney Medical School, University of Sydney, Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2014.08.020DOI Listing
October 2014

Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy.

Genet Med 2013 Dec 18;15(12):972-7. Epub 2013 Apr 18.

1] Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia [2] School of Medicine, University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1038/gim.2013.44DOI Listing
December 2013

Cardiac myosin-binding protein C gene mutation expressed as hypertrophic cardiomyopathy and left ventricular noncompaction within two families: insights from cardiac magnetic resonance in clinical screening: Camuglia MYBPC3 gene mutation and MRI.

Int J Cardiol 2013 Oct 30;168(3):2950-2. Epub 2013 Apr 30.

Department of Cardiology, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia; University of Queensland School of Medicine, Brisbane, Queensland, Australia.

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https://linkinghub.elsevier.com/retrieve/pii/S01675273130071
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http://dx.doi.org/10.1016/j.ijcard.2013.03.168DOI Listing
October 2013

Improving identification of lynch syndrome patients: a comparison of research data with clinical records.

Int J Cancer 2013 Jun 11;132(12):2876-83. Epub 2013 Jan 11.

School of Medicine, The University of Queensland, 288 Herston Road, Herston, Queensland 4006, Australia.

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http://dx.doi.org/10.1002/ijc.27978DOI Listing
June 2013

Health status of cardiac genetic disease patients and their at-risk relatives.

Int J Cardiol 2013 May 17;165(3):448-53. Epub 2011 Sep 17.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia.

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http://dx.doi.org/10.1016/j.ijcard.2011.08.083DOI Listing
May 2013

Sebaceous adenoma arising within an ovarian mature cystic teratoma in Muir-Torre syndrome.

Ann Diagn Pathol 2012 Dec 17;16(6):485-8. Epub 2011 Jun 17.

Pathology Queensland, Royal Brisbane and Women's Hospital, Herston QLD 4029, Australia.

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http://dx.doi.org/10.1016/j.anndiagpath.2011.04.003DOI Listing
December 2012

Pleural malignancy in a 22-year-old female with a chromosome 22q13 deletion.

Am J Med Genet A 2012 Sep 20;158A(9):2362-3. Epub 2012 Jul 20.

Genetic Health Queensland, Royal Brisbane and Women's Hospital, School of Medicine, University of Queensland, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1002/ajmg.a.35501DOI Listing
September 2012

Lung fibrosis, premature graying, and macrocytosis.

Am J Respir Crit Care Med 2012 Sep;186(5):e8-9

School of Medicine, The University of Queensland, Brisbane, Australia.

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http://www.atsjournals.org/doi/abs/10.1164/rccm.201112-2175I
Publisher Site
http://dx.doi.org/10.1164/rccm.201112-2175IMDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3443804PMC
September 2012

Genetic testing for inherited heart diseases: longitudinal impact on health-related quality of life.

Genet Med 2012 3;14(8):749-752. Epub 2012 May 3.

1] Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia [2] Sydney Medical School, University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1038/gim.2012.47DOI Listing
May 2012

A cost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy.

Heart 2012 Apr 29;98(8):625-30. Epub 2011 Nov 29.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia.

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http://heart.bmj.com/lookup/doi/10.1136/heartjnl-2011-300368
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http://dx.doi.org/10.1136/heartjnl-2011-300368DOI Listing
April 2012

A second case of contractures, webbed neck, micrognathia, hypoplastic nipples, and distinctive facial features: confirmation of the Dinno syndrome.

Am J Med Genet A 2012 Apr 1;158A(4):836-8. Epub 2012 Mar 1.

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

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http://dx.doi.org/10.1002/ajmg.a.35224DOI Listing
April 2012

Progressive edema leading to pleural effusions in a female with a ring chromosome 22 leading to a 22q13 deletion.

Clin Dysmorphol 2010 Jan;19(1):28-9

Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Brisbane 4029, Australia.

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http://dx.doi.org/10.1097/MCD.0b013e3283301f58DOI Listing
January 2010

Non-pathological paternal isodisomy of chromosome 2 detected from a genome-wide SNP scan.

Am J Med Genet A 2009 Aug;149A(8):1823-6

Department of Psychology, University of Colorado at Boulder, 80309, USA.

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http://dx.doi.org/10.1002/ajmg.a.32973DOI Listing
August 2009

Nasal encephalocele in a child with mosaic trisomy 14.

Clin Dysmorphol 2009 Jul;18(3):164-5

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

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http://dx.doi.org/10.1097/MCD.0b013e32832921b9DOI Listing
July 2009

Elements of morphology: standard terminology for the head and face.

Am J Med Genet A 2009 Jan;149A(1):6-28

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.

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http://dx.doi.org/10.1002/ajmg.a.32612DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2778021PMC
January 2009

Establishment of an Australian National Genetic Heart Disease Registry.

Heart Lung Circ 2008 Dec 21;17(6):463-7. Epub 2008 Aug 21.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia.

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http://dx.doi.org/10.1016/j.hlc.2008.05.603DOI Listing
December 2008

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.

Hum Mutat 2008 Aug;29(8):1017-27

Academic Unit of Medical Genetics and Regional Genetics Service, University of Manchester, St Mary's Hospital, Manchester, United Kingdom.

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http://dx.doi.org/10.1002/humu.20741DOI Listing
August 2008

A second case of severe mental retardation and absent nails of hallux and pollex (Temple-Baraitser syndrome).

Am J Med Genet A 2008 Feb;146A(4):450-2

Genetic Health Queensland, Royal Children's Hospital, Brisbane, Australia.

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http://dx.doi.org/10.1002/ajmg.a.32129DOI Listing
February 2008

A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype.

Clin Dysmorphol 2006 Apr;15(2):89-93

Queensland Clinical Genetics Service, Royal Children's Hospital, Herston, Brisbane 4029, Queensland, Australia.

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http://dx.doi.org/10.1097/01.mcd.0000194407.92676.9dDOI Listing
April 2006

Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.

Am J Med Genet A 2005 Sep;137A(3):302-4

Queensland Clinical Genetics Service, Royal Children's Hospital, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1002/ajmg.a.30896DOI Listing
September 2005

Klippel-Feil anomaly and neural tube defects.

Authors:
Julie McGaughran

Am J Med Genet A 2004 Jun;127A(3):327-8

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http://dx.doi.org/10.1002/ajmg.a.20304DOI Listing
June 2004

Cardio-facio-cutaneous syndrome: first presentation in a 52-year-old woman.

Authors:
Julie McGaughran

Am J Med Genet A 2003 Jan;116A(2):210-2

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http://dx.doi.org/10.1002/ajmg.a.10784DOI Listing
January 2003

Prenatal diagnosis of mosaic trisomy 20 in New Zealand.

Aust N Z J Obstet Gynaecol 2002 Nov;42(5):486-9

Northern Regional Genetic Service, Auckland Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1111/j.0004-8666.2002.00486.xDOI Listing
November 2002

Setleis syndrome: three new cases and a review of the literature.

Am J Med Genet 2002 Sep;111(4):376-80

Northern Regional Genetic Service, Auckland Hospital, New Zealand.

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http://doi.wiley.com/10.1002/ajmg.10632
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http://dx.doi.org/10.1002/ajmg.10632DOI Listing
September 2002

A severe case of oculo-ectodermal syndrome?

Clin Dysmorphol 2002 Jul;11(3):179-82

Northern Regional Genetic Service, Auckland, New Zealand.

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http://dx.doi.org/10.1097/00019605-200207000-00005DOI Listing
July 2002

Craniofrontonasal syndrome and diaphragmatic hernia.

Am J Med Genet 2002 Jul;110(4):391-2

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http://dx.doi.org/10.1002/ajmg.10176DOI Listing
July 2002

Complete overlap of PHACE syndrome and sternal malformation--vascular dysplasia association.

Am J Med Genet 2002 Jun;110(1):78-84

Northern Regional Genetics Services, Auckland Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1002/ajmg.10398DOI Listing
June 2002

Improved clinical management of retinoblastoma through gene testing.

N Z Med J 2002 May;115(1154):231-4

Department of Molecular Pathology, Christchurch School of Medicine.

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May 2002

Prenatal diagnosis of partial tetrasomy 14: a case study.

Prenat Diagn 2002 Feb;22(2):127-30

Cytogenetics Department, LabPlus, Auckland Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1002/pd.258DOI Listing
February 2002