Non-pathological paternal isodisomy of chromosome 2 detected from a genome-wide SNP scan
Keller, Matthew C., McRae, Allan F., McGaughran, Julie M., Visscher, Peter M., Martin, Nicholas G., Montgomery, Grant W.
Published in American journal of medical genetics. Part A (01.08.2009)
Published in American journal of medical genetics. Part A (01.08.2009)
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A balanced paternal interchromosomal reciprocal insertion between 5q12.1q13.2 and 20p12.3p12.1 resulting in separate genetic conditions in two siblings
Wallis, Mathew J., Kelly, Amanda L., Peters, Gregory B., St Heaps, Luke, Nandini, Adayapalam, McGaughran, Julie M.
Published in American journal of medical genetics. Part A (01.07.2016)
Published in American journal of medical genetics. Part A (01.07.2016)
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Clinical and genetic features of Australian families with long QT syndrome: A registry-based study
Burns, Charlotte, MPH, MGC (Associate Professor), Ingles, Jodie, GradDipGenCouns, MPH, PhD (Associate Professor), Davis, Andrew M., MBBS (Associate Professor), Connell, Vanessa, RN (Associate Professor), Gray, Belinda, MBBS (Associate Professor), Hunt, Lauren, BSc, MSc (Associate Professor), McGaughran, Julie, MBChB, MD (Professor), Semsarian, Christopher, MBBS, PhD, MPH (Professor)
Published in Journal of arrhythmia (01.12.2016)
Published in Journal of arrhythmia (01.12.2016)
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Position Statement on the Diagnosis and Management of Familial Dilated Cardiomyopathy
Fatkin, Diane, MBBS, MD, FRACP, FCSANZ, Johnson, Renee, PhD, MGC, McGaughran, Julie, MD, FRCP, FRACP, Weintraub, Robert G., MBBS, FRACP, FCSANZ, Atherton, John J., MBBS, PhD, FRACP, FCSANZ, on behalf of the CSANZ Genetics Council Writing Group
Published in Heart, lung & circulation (01.11.2017)
Published in Heart, lung & circulation (01.11.2017)
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Erratum to “Guidelines for Genetic Testing of Inherited Cardiac Disorders” [Heart Lung Circ. 20 (2011) 681–687]
Ingles, Jodie, BBiomedSci, GradDipGenCouns, Zodgekar, Poonam R., MSW, GradDipGenCouns, Yeates, Laura, BSc(Hons), GradDipGenCouns, Macciocca, Ivan, BSc, GradDipGenCouns, McGaughran, Julie, MD, FRCP, FRACP, Semsarian, Christopher, MB BS, PhD, FRACP, FAHA, FCSANZ, Fatkin, Diane, MD, FRACP, FCSANZ
Published in Heart, lung & circulation (01.01.2012)
Published in Heart, lung & circulation (01.01.2012)
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Journal Article
A balanced paternal interchromosomal reciprocal insertion between 5q12.1q13.2 and 20p12.3p12.1 resulting in separate genetic conditions in two siblings
Wallis, Mathew J, Kelly, Amanda L, Peters, Gregory B, St Heaps, Luke, Nandini, Adayapalam, McGaughran, Julie M
Published in American journal of medical genetics. Part A (01.07.2016)
Published in American journal of medical genetics. Part A (01.07.2016)
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Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients
McGaughran, J M, Gaunt, L, Dore, J, Petrij, F, Dauwerse, H G, Donnai, D
Published in Journal of medical genetics (01.01.1996)
Published in Journal of medical genetics (01.01.1996)
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Biliary atresia in Kabuki syndrome
McGaughran, J M, Donnai, D, Clayton-Smith, J
Published in American journal of medical genetics (13.03.2000)
Published in American journal of medical genetics (13.03.2000)
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