Works by McGaughran, Julie

Results: 35

Prenatal diagnosis of mosaic trisomy 20 in New Zealand.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2002, v. 42, n. 5, p. 486, doi. 10.1111/j.0004-8666.2002.00486.x

By:

James, Paul A;
Gibson, Kate;
McGaughran, Julie

Publication type:

Article

Constraint and conservation of paired‐type homeodomains predicts the clinical outcome of missense variants of uncertain significance.

Published in:

Human Mutation, 2020, v. 41, n. 8, p. 1407, doi. 10.1002/humu.24034

By:

Thai, Monica H. N.;
Gardner, Alison;
Redpath, Laura;
Mattiske, Tessa;
Dearsley, Oliver;
Shaw, Marie;
Vulto‐van Silfhout, Anneke T.;
Pfundt, Rolph;
Dixon, Joanne;
McGaughran, Julie;
Pérez‐Jurado, Luis A.;
Gécz, Jozef;
Shoubridge, Cheryl

Publication type:

Article

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

Published in:

Human Mutation, 2008, v. 29, n. 8, p. 1017, doi. 10.1002/humu.20741

By:

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

Publication type:

Article

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.

Published in:

Human Mutation, 2006, v. 27, n. 9, p. 975, doi. 10.1002/humu.9449

By:

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

Publication type:

Article

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

Published in:

Human Mutation, 2005, v. 26, n. 3, p. 282, doi. 10.1002/humu.9362

By:

Botzenhart, Elke M.;
Green, Andrew;
Ilyina, Helena;
König, Rainer;
Lowry, R. Brian;
Lo, Ivan F. M.;
Shohat, Mordechai;
Burke, Leah;
McGaughran, Julie;
Chafai, Ronit;
Pierquin, Geneviève;
Michaelis, Ron C;
Whiteford, Margo L.;
Simola, Kalle O. J.;
Rösler, Bernd;
Kohlhase, Jürgen

Publication type:

Article

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

Published in:

Nature Genetics, 2015, v. 47, n. 3, p. 304, doi. 10.1038/ng0315-304b

By:

Simons, Cas;
Rash, Lachlan D;
Crawford, Joanna;
Ma, Linlin;
Cristofori-Armstrong, Ben;
Miller, David;
Ru, Kelin;
Baillie, Gregory J;
Alanay, Yasemin;
Jacquinet, Adeline;
Debray, François-Guillaume;
Verloes, Alain;
Shen, Joseph;
Yesil, Gözde;
Guler, Serhat;
Yuksel, Adnan;
Cleary, John G;
Grimmond, Sean M;
McGaughran, Julie;
King, Glenn F

Publication type:

Article

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

Published in:

Nature Genetics, 2015, v. 47, n. 1, p. 73, doi. 10.1038/ng.3153

By:

Simons, Cas;
Rash, Lachlan D;
Crawford, Joanna;
Ma, Linlin;
Cristofori-Armstrong, Ben;
Ru, Kelin;
Baillie, Gregory J;
King, Glenn F;
McGaughran, Julie;
Gabbett, Michael T;
Taft, Ryan J;
Miller, David;
Alanay, Yasemin;
Jacquinet, Adeline;
Debray, François-Guillaume;
Verloes, Alain;
Shen, Joseph;
Yesil, Gözde;
Guler, Serhat;
Yuksel, Adnan

Publication type:

Article

A multidisciplinary renal genetics clinic improves patient diagnosis.

Published in:

2016

By:

Mallett, Andrew;
Fowles, Lindsay F.;
McGaughran, Julie;
Healy, Helen;
Patel, Chirag

Publication type:

journal article

Evolutionary dissection of mtDNA hg H: a susceptibility factor for hypertrophic cardiomyopathy.

Published in:

Mitochondrial DNA. Part A, 2020, v. 31, n. 6, p. 238, doi. 10.1080/24701394.2020.1782897

By:

Hagen, Christian M.;
Elson, Joanna L.;
Hedley, Paula L.;
Aidt, Frederik H.;
Havndrup, Ole;
Jensen, Morten K.;
Kanters, Jørgen K.;
Atherton, John J.;
McGaughran, Julie;
Bundgaard, Henning;
Christiansen, Michael

Publication type:

Article

"Equity" in genomic health policies: a review of policies in the international arena.

Published in:

Frontiers in Public Health, 2025, p. 1, doi. 10.3389/fpubh.2024.1464701

By:

Basnayake Ralalage, Prabhathi;
Mitchell, Tala;
Zammit, Claire;
Baynam, Gareth;
Kowal, Emma;
Masey, Libby;
McGaughran, Julie;
Boughtwood, Tiffany;
Jenkins, Misty;
Pratt, Gregory;
Ferdinand, Angeline

Publication type:

Article

Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander people.

Published in:

Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-32707-0

By:

Luke, Joanne;
Dalach, Philippa;
Tuer, Lindsay;
Savarirayan, Ravi;
Ferdinand, Angeline;
McGaughran, Julie;
Kowal, Emma;
Massey, Libby;
Garvey, Gail;
Dawkins, Hugh;
Jenkins, Misty;
Paradies, Yin;
Pearson, Glenn;
Stutterd, Chloe A.;
Baynam, Gareth;
Kelaher, Margaret

Publication type:

Article

Delineating the phenotype of RNU4ATAC‐related spliceosomopathy.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1094, doi. 10.1002/ajmg.a.63110

By:

Tabib, Amanda;
Richmond, Christopher M.;
McGaughran, Julie

Publication type:

Article

Delineating the CCDC22‐related Ritscher–Schinzel syndrome phenotype in the original family.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3324, doi. 10.1002/ajmg.a.62963

By:

Rodgers, Jonathan;
Richmond, Christopher M.;
McGaughran, Julie

Publication type:

Article

KBG syndrome: An Australian experience.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1866, doi. 10.1002/ajmg.a.38121

By:

Murray, Natalia;
Burgess, Bronwyn;
Hay, Robin;
Colley, Alison;
Rajagopalan, Sulekha;
McGaughran, Julie;
Patel, Chirag;
Enriquez, Annabelle;
Goodwin, Linda;
Stark, Zornitza;
Tan, Tiong;
Wilson, Meredith;
Roscioli, Tony;
Tekin, Mustafa;
Goel, Himanshu

Publication type:

Article

Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2694, doi. 10.1002/ajmg.a.37803

By:

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

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1930, doi. 10.1002/ajmg.a.37689

By:

Wallis, Mathew J.;
Kelly, Amanda L.;
Peters, Gregory B.;
St Heaps, Luke;
Nandini, Adayapalam;
McGaughran, Julie M.

Publication type:

Article

Factors influencing uptake of familial long QT syndrome genetic testing.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 418, doi. 10.1002/ajmg.a.37455

By:

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

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2362, doi. 10.1002/ajmg.a.35501

By:

McGaughran, Julie;
Sidhu, Mayenaaz;
Jessop, Melissa

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 836, doi. 10.1002/ajmg.a.35224

By:

Wall, Nerilee;
McGaughran, Julie

Publication type:

Article

Lung fibrosis, premature graying, and macrocytosis.

Published in:

2012

By:

Chambers DC;
Clarke BE;
McGaughran J;
Garcia CK;
Chambers, Daniel Charles;
Clarke, Belinda Edith;
McGaughran, Julie;
Garcia, Christine Kim

Publication type:

journal article

CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling.

Published in:

Journal of Clinical Investigation, 2013, v. 123, n. 5, p. 2244, doi. 10.1172/JCI66466

By:

Starokadomskyy, Petro;
Gluck, Nathan;
Haiying Li;
Baozhi Chen;
Wallis, Mathew;
Maine, Gabriel N.;
Xicheng Mao;
Zaidi, Iram W.;
Hein, Marco Y.;
McDonald, Fiona J.;
Lenzner, Steffen;
Zecha, Agnes;
Ropers, Hans-Hilger;
Kuss, Andreas W.;
McGaughran, Julie;
Gecz, Jozef;
Burstein, Ezra

Publication type:

Article

Positional Cloning of a Gene Involved in Hereditary Multiple Exostoses.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 10, p. 1547, doi. 10.1093/hmg/5.10.1547

By:

Wuyts, Wim;
Van Hul, Wim;
Wauters, Jan;
Nemtsova, Marina;
Reyniers, Edwin;
Van Hul, Els;
De Boulle, Kristel;
de Vries, Bert B. A.;
Hendrickx, Jan;
Herrygers, Ilde;
Bossuyt, Paul;
Balemans, Wendy;
Fransen, Erik;
Vits, Lieve;
Coucke, Paul;
Nowak, Norma J.;
Shows, Thomas B.;
Mallet, Laurence;
van den Ouweland, Ans M. W.;
McGaughran, Julie

Publication type:

Article

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

Published in:

International Journal of Cancer, 2013, v. 132, n. 12, p. 2876, doi. 10.1002/ijc.27978

By:

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

Publication type:

Article

Prenatal diagnosis of partial tetrasomy 14: a case study.

Published in:

Prenatal Diagnosis, 2002, v. 22, n. 2, p. 127, doi. 10.1002/pd.258

By:

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

Publication type:

Article

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

Published in:

Journal of Arrhythmia, 2016, v. 32, n. 6, p. 456, doi. 10.1016/j.joa.2016.02.001

By:

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

Publication type:

Article

Antisense-mediated exon skipping: a therapeutic strategy for titin-based dilated cardiomyopathy.

Published in:

EMBO Molecular Medicine, 2015, v. 7, n. 5, p. 562, doi. 10.15252/emmm.201505047

By:

Gramlich, Michael;
Pane, Luna Simona;
Zhou, Qifeng;
Chen, Zhifen;
Murgia, Marta;
Schötterl, Sonja;
Goedel, Alexander;
Metzger, Katja;
Brade, Thomas;
Parrotta, Elvira;
Schaller, Martin;
Gerull, Brenda;
Thierfelder, Ludwig;
Aartsma‐Rus, Annemieke;
Labeit, Siegfried;
Atherton, John J;
McGaughran, Julie;
Harvey, Richard P;
Sinnecker, Daniel;
Mann, Matthias

Publication type:

Article

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

Published in:

Journal of Genetic Counseling, 2018, v. 27, n. 3, p. 549, doi. 10.1007/s10897-017-0152-1

By:

Richardson, Ebony;
Semsarian, Christopher;
Ingles, Jodie;
Spinks, Catherine;
Davis, Andrew;
Turner, Christian;
Atherton, John;
McGaughran, Julie

Publication type:

Article

"This is my boy's health! Talk straight to me!" perspectives on accessible and culturally safe care among Aboriginal and Torres Strait Islander patients of clinical genetics services.

Published in:

International Journal for Equity in Health, 2021, v. 20, n. 1, p. 1, doi. 10.1186/s12939-021-01443-0

By:

Dalach, Philippa;
Savarirayan, Ravi;
Baynam, Gareth;
McGaughran, Julie;
Kowal, Emma;
Massey, Libby;
Jenkins, Misty;
Paradies, Yin;
Kelaher, Margaret

Publication type:

Article

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

Published in:

BMC Nephrology, 2015, v. 16, p. 1, doi. 10.1186/s12882-015-0148-8

By:

Mallett, Andrew;
Patel, Chirag;
Maier, Barbara;
McGaughran, Julie;
Gabbett, Michael;
Minoru Takasato;
Cameron, Anne;
Trnka, Peter;
Alexander, Stephen I.;
Rangan, Gopala;
Tchan, Michel C.;
Caruana, Georgina;
John, George;
Quinlan, Cathy;
McCarthy, Hugh J.;
Hyland, Valentine;
Hoy, Wendy E.;
Wolvetang, Ernst;
Taft, Ryan;
Simons, Cas

Publication type:

Article

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

Published in:

2015

By:

Mallett, Andrew;
Patel, Chirag;
Maier, Barbara;
McGaughran, Julie;
Gabbett, Michael;
Takasato, Minoru;
Cameron, Anne;
Trnka, Peter;
Alexander, Stephen I.;
Rangan, Gopala;
Tchan, Michel C.;
Caruana, Georgina;
John, George;
Quinlan, Cathy;
McCarthy, Hugh J.;
Hyland, Valentine;
Hoy, Wendy E.;
Wolvetang, Ernst;
Taft, Ryan;
Simons, Cas

Publication type:

journal article

The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.

Published in:

Journal of Personalized Medicine, 2022, v. 12, n. 11, p. 1781, doi. 10.3390/jpm12111781

By:

Archibald, Alison D.;
McClaren, Belinda J.;
Caruana, Jade;
Tutty, Erin;
King, Emily A.;
Halliday, Jane L.;
Best, Stephanie;
Kanga-Parabia, Anaita;
Bennetts, Bruce H.;
Cliffe, Corrina C.;
Madelli, Evanthia O.;
Ho, Gladys;
Liebelt, Jan;
Long, Janet C.;
Braithwaite, Jeffrey;
Kennedy, Jillian;
Massie, John;
Emery, Jon D.;
McGaughran, Julie;
Marum, Justine E.

Publication type:

Article

CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL.

Published in:

Nature Communications, 2016, v. 7, n. 3, p. 10961, doi. 10.1038/ncomms10961

By:

Bartuzi, Paulina;
Billadeau, Daniel D.;
Favier, Robert;
Rong, Shunxing;
Dekker, Daphne;
Fedoseienko, Alina;
Fieten, Hille;
Wijers, Melinde;
Levels, Johannes H.;
Huijkman, Nicolette;
Kloosterhuis, Niels;
van der Molen, Henk;
Brufau, Gemma;
Groen, Albert K.;
Elliott, Alison M.;
Kuivenhoven, Jan Albert;
Plecko, Barbara;
Grangl, Gernot;
McGaughran, Julie;
Horton, Jay D.

Publication type:

Article

A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets.

Published in:

European Heart Journal, 2025, v. 46, n. 15, p. 1446, doi. 10.1093/eurheartj/ehaf001

By:

Butters, Alexandra;
Thomson, Kate;
Harrington, Franki;
Henden, Natasha;
McGuire, Karen;
Byrne, Alicia B;
Bryen, Samantha;
McGurk, Kathryn A;
Leask, Megan;
Ackerman, Michael J;
Atherton, John;
Bos, Johan M;
Caleshu, Colleen;
Day, Sharlene M;
Dunn, Kyla;
Hayes, Ian;
Juang, Jimmy;
McGaughran, Julie;
Nowak, Natalie;
Parikh, Victoria N

Publication type:

Article

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

Published in:

European Journal of Cardiovascular Nursing, 2017, v. 16, n. 8, p. 742, doi. 10.1177/1474515117715760

By:

Sweeting, Joanna;
Ball, Kylie;
McGaughran, Julie;
Atherton, John;
Semsarian, Christopher;
Ingles, Jodie

Publication type:

Article

A translation re‐initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation.

Published in:

British Journal of Dermatology, 2022, v. 187, n. 6, p. 1045, doi. 10.1111/bjd.21832

By:

Vermeer, Mathilde C.S.C.;
Al‐Shinnag, Mohammad;
Silljé, Herman H.W.;
Gaytan, Antonio Esquivel;
Murrell, Dedee F.;
McGaughran, Julie;
Melbourne, Wei;
Cowan, Timothy;
van den Akker, Peter C.;
van Spaendonck‐Zwarts, Karin Y.;
van der Meer, Peter;
Bolling, Maria C.

Publication type:

Article