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1

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

May Tassabehji, Zhi Ming Fang, Emma N. Hilton, Julie McGaughran, Zhongming Zhao, Charles E. de Bock, Emma Howard, Michael Malass, Dian Donnai, Ashish Diwan, Forbes D.C. Manson, Dédée Murrell, Raymond

Journal:

Year:

2008

Language:

english

File:

PDF, 602 KB

english, 2008

2

Elements of morphology: Standard terminology for the head and face

Judith E. Allanson, Christopher Cunniff, H. Eugene Hoyme, Julie McGaughran, Max Muenke, Giovanni Neri

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 1.56 MB

english, 2009

3

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

Jason Smith, Karen Crowe, Julie McGaughran, Thomas Robertson

Journal:

Annals of Diagnostic Pathology

Year:

2012

Language:

english

File:

PDF, 972 KB

english, 2012

4

Geleophysic dysplasia and Myhre syndrome: Reply to Luis E. Figuera

McGaughran, Julie, Donnai, Dian

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 84 KB

english, 1996

5

Biliary atresia in Kabuki syndrome

McGaughran, Julie M., Donnai, Dian, Clayton-Smith, Jill

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 46 KB

english, 2000

6

Trisomy of 3pter in a patient with apparent C (trigonocephaly) syndrome

Julie McGaughran, Salim Aftimos, Paul Oei

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 245 KB

english, 2000

7

Craniofrontonasal syndrome and diaphragmatic hernia

Julie McGaughran, Martin Rees, Malcom Battin

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 69 KB

english, 2002

8

Complete overlap of PHACE syndrome and sternal malformation—vascular dysplasia association

Paul A. James, Julie McGaughran

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 368 KB

english, 2002

9

Setleis syndrome: Three new cases and a review of the literature

Julie McGaughran, Salim Aftimos

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 275 KB

english, 2002

10

Coffin-Lowry syndrome in a patient from the Cook Islands confirmed by the presence of a unique mutation

Julie McGaughran, Jean-Pierre Delaunoy

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 122 KB

english, 2002

11

Geleophysic dysplasia: A report of three affected boys—prenatal ultrasound does not detect recurrence

Dr. Elisabeth M. Rosser, Andrew R. Wilkinson, Jane A. Hurst, Julie M. McGaughran, Dian Donnai

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 468 KB

english, 1995

12

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

Julie McGaughran

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 193 KB

english, 2003

13

Klippel–Feil anomaly and neural tube defects

Julie McGaughran

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 36 KB

english, 2004

14

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

Julie McGaughran, Stephen Sinnott, Florence Dastot-Le Moal, Meredith Wilson, David Mowat, Bridget Sutton, Michel Goossens

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 106 KB

english, 2005

15

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

Michael T. Gabbett, Ronald C. Clark, Julie M. McGaughran

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 270 KB

english, 2008

16

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

Matthew C. Keller, Allan F. McRae, Julie M. McGaughran, Peter M. Visscher, Nicholas G. Martin, Grant W. Montgomery

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 158 KB

english, 2009

17

SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype

Elke M. Botzenhart, Andrew Green, Helena Ilyina, Rainer König, R. Brian Lowry, Ivan F. M. Lo, Mordechai Shohat, Leah Burke, Julie McGaughran, Ronit Chafai, Geneviève Pierquin, Ron C Michaelis, Margo L

Journal:

Year:

2005

Language:

english

File:

PDF, 148 KB

english, 2005

18

Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations

Wiktor Borozdin, Ana M. Bravo Ferrer Acosta, Michael J. Bamshad, Elke M. Botzenhart, Ursula G. Froster, Johannes Lemke, Albert Schinzel, Stephanie Spranger, Julie McGaughran, Dorothea Wand, Krystyna H

Journal:

Year:

2006

Language:

english

File:

PDF, 151 KB

english, 2006

19

Prenatal diagnosis of partial tetrasomy 14: a case study

Alice M. George, Lavinia Hallam, Paul Oei, Julie McGaughran

Journal:

Prenatal Diagnosis

Year:

2002

Language:

english

File:

PDF, 91 KB

english, 2002

20

Prenatal diagnosis of mosaic trisomy 20 in New Zealand

Paul A James, Kate Gibson, Julie McGaughran

Journal:

Australian and New Zealand Journal of Obstetrics and Gynaecology

Year:

2002

Language:

english

File:

PDF, 83 KB

english, 2002

21

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

Nerilee Wall, Julie McGaughran

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 153 KB

english, 2012

22

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

Julie McGaughran, Mayenaaz Sidhu, Melissa Jessop

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 53 KB

english, 2012

23

Erratum to “Guidelines for Genetic Testing of Inherited Cardiac Disorders” [Heart Lung Circ. 20 (2011) 681–687]

Jodie Ingles, Poonam R. Zodgekar, Laura Yeates, Ivan Macciocca, Julie McGaughran, Christopher Semsarian, Diane Fatkin

Journal:

Heart Lung & Circulation

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

24

Delineation of the Critical Deletion Region for Congenital Heart Defects, on Chromosome 8p23.1

Koenraad Devriendt, Gert Matthijs, Roeland Van Dael, Marc Gewillig, Benedicte Eyskens, Helle Hjalgrim, Brigitte Dolmer, Julie McGaughran, Karen Bröndum-Nielsen, Peter Marynen, Jean-Pierre Fryns, Joris

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 682 KB

english, 1999

25

The National Genetic Heart Disease Registry

Jodie Ingles, Laura Yeates, Vanessa Connell, Julie McGaughran, Andrew Davis, Jitendra Vohra, Robert Weintraub, John Atherton, Chris Semsarian

Journal:

Heart Lung & Circulation

Year:

2008

Language:

english

File:

PDF, 80 KB

english, 2008

26

Establishment of an Australian National Genetic Heart Disease Registry

Jodie Ingles, Julie McGaughran, Jitendra Vohra, Robert G. Weintraub, Andrew Davis, John Atherton, Christopher Semsarian

Journal:

Heart Lung & Circulation

Year:

2008

Language:

english

File:

PDF, 185 KB

english, 2008

27

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, Anthony C., Younger, John F., McGaughran, Julie, Lo, Ada, Atherton, John J.

Journal:

International Journal of Cardiology

Year:

2013

Language:

english

File:

PDF, 377 KB

english, 2013

28

Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy

Ingles, Jodie, Sarina, Tanya, Yeates, Laura, Hunt, Lauren, Macciocca, Ivan, McCormack, Louise, Winship, Ingrid, McGaughran, Julie, Atherton, John, Semsarian, Christopher

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 688 KB

english, 2013

29

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

Tan, Yen Y., McGaughran, Julie, Ferguson, Kaltin, Walsh, Michael D., Buchanan, Daniel D., Young, Joanne P., Webb, Penelope M., Obermair, Andreas, Spurdle, Amanda B.

Journal:

International Journal of Cancer

Year:

2013

Language:

english

File:

PDF, 201 KB

english, 2013

30

PM055 Twisting Myocardial Mechanics are Impaired in Apparently Unaffected Hypertrophic Cardiomyopathy Mutation Carriers

Lo, Ada, Dahiya, Arun, McCormack, Louise, Hunt, Lauent, Ng, Arnold, McGaughran, Julie, Prasad, Sandhir, Atherton, John J.

Journal:

Year:

2014

Language:

english

File:

PDF, 220 KB

english, 2014

31

PM054 Myocardial Mechanics in Hypertrophic Cardiomyopathy: Is There a Difference between Subtypes?

Lo, Ada, Dooris, Mark, Prasad, Sandhir, McGaughran, Julie, Dahiya, Arun, Ng, Arnold, Younger, John, Parsonage, William, Atherton, John J.

Journal:

Year:

2014

Language:

english

File:

PDF, 220 KB

english, 2014

32

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

Ingles, Jodie, Yeates, Laura, Hunt, Lauren, McGaughran, Julie, Scuffham, Paul A., Atherton, John, Semsarian, Christopher

Journal:

International Journal of Cardiology

Year:

2013

Language:

english

File:

PDF, 492 KB

english, 2013

33

Delay to diagnosis amongst patients with catecholaminergic polymorphic ventricular tachycardia

Kozlovski, Jennifer, Ingles, Jodie, Connell, Vanessa, Hunt, Lauren, McGaughran, Julie, Turner, Christian, Davis, Andrew, Sy, Raymond, Semsarian, Christopher

Journal:

International Journal of Cardiology

Year:

2014

Language:

english

File:

PDF, 231 KB

english, 2014

34

Compound Heterozygosity at the FMR1 Gene

Hegde, Madhuri R., Fawkner, Matthew, Chong, Belinda, McGaughran, Julie, Gilbert, Dale, Love, Donald R.

Journal:

Genetic Testing

Year:

2001

Language:

english

File:

PDF, 161 KB

english, 2001

35

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

Ingles, Jodie, Yeates, Laura, O’Brien, Lisa, McGaughran, Julie, Scuffham, Paul A., Atherton, John, Semsarian, Christopher

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 214 KB

english, 2012

36

Another case of preaxial polydactyly and white forelock in branchio-oculo-facial syndrome

McGaughran, Julie

Journal:

Clinical Dysmorphology

Year:

2001

Language:

english

File:

PDF, 168 KB

english, 2001

37

A severe case of oculo-ectodermal syndrome?

James, Paul A., McGaughran, Julie

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 207 KB

english, 2002

38

Klippel-Feil anomaly in Fanconi anemia

McGaughran, Julie

Journal:

Clinical Dysmorphology

Year:

2003

Language:

english

File:

PDF, 37 KB

english, 2003

39

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

Burns, Charlotte, Ingles, Jodie, Davis, Andrew M., Connell, Vanessa, Gray, Belinda, Hunt, Lauren, McGaughran, Julie, Semsarian, Christopher

Journal:

Journal of Arrhythmia

Year:

2016

Language:

english

File:

PDF, 426 KB

english, 2016

40

A protocol for the identification and validation of novel genetic causes of kidney disease

Mallett, Andrew, Patel, Chirag, Maier, Barbara, McGaughran, Julie, Gabbett, Michael, Takasato, Minoru, Cameron, Anne, Trnka, Peter, I. Alexander, Stephen, Rangan, Gopala, Tchan, Michel C., Caruana, Ge

Journal:

Year:

2015

Language:

english

File:

PDF, 996 KB

english, 2015

41

Factors influencing uptake of familial long QT syndrome genetic testing

Burns, Charlotte, McGaughran, Julie, Davis, Andrew, Semsarian, Christopher, Ingles, Jodie

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 216 KB

english, 2016

42

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.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 506 KB

english, 2016

43

Klippel-Feil anomaly in Fanconi anemia

McGaughran, Julie

Journal:

Clinical Dysmorphology

Year:

2003

Language:

english

File:

PDF, 37 KB

english, 2003

44

Nasal encephalocele in a child with mosaic trisomy 14

McGaughran, Julie, Stevens, Rebecca, Blond, Adam, Perry, Christopher

Journal:

Clinical Dysmorphology

Year:

2009

Language:

english

File:

PDF, 137 KB

english, 2009

45

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

McGaughran, Julie, Hadwen, Thomas, Clark, Ron

Journal:

Clinical Dysmorphology

Year:

2010

Language:

english

File:

PDF, 105 KB

english, 2010

46

Syndactyly, micrognathia and skeletal anomalies: a new syndrome?

McGaughran, Julie, Moore, Lynette, Russell, Sarah, Donnai, Dian

Journal:

Clinical Dysmorphology

Year:

1998

File:

PDF, 257 KB

1998

47

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

McGaughran, Julie, Sinnott, Stephen, Susman, Rachel, Buckley, Michael F., Elakis, George, Cox, Timothy, Roscioli, Tony

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 154 KB

english, 2006

48

MURCS in a male

McGaughran, Julie

Journal:

Clinical Dysmorphology

Year:

1999

File:

PDF, 635 KB

1999

49

Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome

Crawford, Joanna, Bower, Neil I., Hogan, Benjamin M., Taft, Ryan J., Gabbett, Michael T., McGaughran, Julie, Simons, Cas

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 563 KB

english, 2016

50

KBG syndrome: An Australian experience

Murray, Natalia, Burgess, Bronwyn, Hay, Robin, Colley, Alison, Rajagopalan, Sulekha, McGaughran, Julie, Patel, Chirag, Enriquez, Annabelle, Goodwin, Linda, Stark, Zornitza, Tan, Tiong, Wilson, Meredit

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 749 KB

english, 2017