A Prospective Study of Sudden Cardiac Death among Children and Young Adults
Bagnall, Richard D, Weintraub, Robert G, Ingles, Jodie, Duflou, Johan, Yeates, Laura, Lam, Lien, Davis, Andrew M, Thompson, Tina, Connell, Vanessa, Wallace, Jennie, Naylor, Charles, Crawford, Jackie, Love, Donald R, Hallam, Lavinia, White, Jodi, Lawrence, Christopher, Lynch, Matthew, Morgan, Natalie, James, Paul, du Sart, Desirée, Puranik, Rajesh, Langlois, Neil, Vohra, Jitendra, Winship, Ingrid, Atherton, John, McGaughran, Julie, Skinner, Jonathan R, Semsarian, Christopher
Published in The New England journal of medicine (23.06.2016)
Published in The New England journal of medicine (23.06.2016)
Get full text
Journal Article
Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission")
Kirk, Edwin P, Ong, Royston, Boggs, Kirsten, Hardy, Tristan, Righetti, Sarah, Kamien, Ben, Roscioli, Tony, Amor, David J, Bakshi, Madhura, Chung, Clara W T, Colley, Alison, Jamieson, Robyn V, Liebelt, Jan, Ma, Alan, Pachter, Nicholas, Rajagopalan, Sulekha, Ravine, Anja, Wilson, Meredith, Caruana, Jade, Casella, Rachael, Davis, Mark, Edwards, Samantha, Archibald, Alison, McGaughran, Julie, Newson, Ainsley J, Laing, Nigel G, Delatycki, Martin B
Published in European journal of human genetics : EJHG (01.01.2021)
Published in European journal of human genetics : EJHG (01.01.2021)
Get full text
Journal Article
CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL
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., Burstein, Ezra, Hofker, Marten H., van de Sluis, Bart
Published in Nature communications (11.03.2016)
Published in Nature communications (11.03.2016)
Get full text
Journal Article
COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A
Phillips-Krawczak, Christine A, Singla, Amika, Starokadomskyy, Petro, Deng, Zhihui, Osborne, Douglas G, Li, Haiying, Dick, Christopher J, Gomez, Timothy S, Koenecke, Megan, Zhang, Jin-San, Dai, Haiming, Sifuentes-Dominguez, Luis F, Geng, Linda N, Kaufmann, Scott H, Hein, Marco Y, Wallis, Mathew, McGaughran, Julie, Gecz, Jozef, Sluis, Bart van de, Billadeau, Daniel D, Burstein, Ezra
Published in Molecular biology of the cell (01.01.2015)
Published in Molecular biology of the cell (01.01.2015)
Get full text
Journal Article
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
Published in Genetics in medicine (01.12.2013)
Published in Genetics in medicine (01.12.2013)
Get full text
Journal Article
Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy
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, Gabbett, Michael T, Taft, Ryan J
Published in Nature genetics (01.01.2015)
Published in Nature genetics (01.01.2015)
Get full text
Journal Article
Web Resource
Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander people
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
Published in Nature communications (24.08.2022)
Published in Nature communications (24.08.2022)
Get full text
Journal Article
Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
Faundes, Víctor, Goh, Stephanie, Akilapa, Rhoda, Bezuidenhout, Heidre, Bjornsson, Hans T., Bradley, Lisa, Brady, Angela F., Brischoux-Boucher, Elise, Brunner, Han, Bulk, Saskia, Canham, Natalie, Cody, Declan, Dentici, Maria Lisa, Digilio, Maria Cristina, Elmslie, Frances, Fry, Andrew E., Gill, Harinder, Hurst, Jane, Johnson, Diana, Julia, Sophie, Lachlan, Katherine, Lebel, Robert Roger, Byler, Melissa, Gershon, Eric, Lemire, Edmond, Gnazzo, Maria, Lepri, Francesca Romana, Marchese, Antonia, McEntagart, Meriel, McGaughran, Julie, Mizuno, Seiji, Okamoto, Nobuhiko, Rieubland, Claudine, Rodgers, Jonathan, Sasaki, Erina, Scalais, Emmanuel, Scurr, Ingrid, Suri, Mohnish, van der Burgt, Ineke, Matsumoto, Naomichi, Miyake, Noriko, Benoit, Valérie, Lederer, Damien, Banka, Siddharth
Published in Genetics in medicine (01.07.2021)
Published in Genetics in medicine (01.07.2021)
Get full text
Journal Article
Web Resource
A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome
Bredrup, Cecilie, Stokowy, Tomasz, McGaughran, Julie, Lee, Samuel, Sapkota, Dipak, Cristea, Ileana, Xu, Linda, Tveit, Kåre Steinar, Høvding, Gunnar, Steen, Vidar Martin, Rødahl, Eyvind, Bruland, Ove, Houge, Gunnar
Published in European journal of human genetics : EJHG (01.04.2019)
Published in European journal of human genetics : EJHG (01.04.2019)
Get full text
Journal 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
Dalach, Philippa, Savarirayan, Ravi, Baynam, Gareth, McGaughran, Julie, Kowal, Emma, Massey, Libby, Jenkins, Misty, Paradies, Yin, Kelaher, Margaret
Published in International journal for equity in health (17.04.2021)
Published in International journal for equity in health (17.04.2021)
Get full text
Journal Article
Antisense‐mediated exon skipping: a therapeutic strategy for titin‐based dilated cardiomyopathy
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, Laugwitz, Karl‐Ludwig, Gawaz, Meinrad Paul, Moretti, Alessandra
Published in EMBO molecular medicine (01.05.2015)
Published in EMBO molecular medicine (01.05.2015)
Get full text
Journal Article
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
Acuna-Hidalgo, Rocio, Deriziotis, Pelagia, Steehouwer, Marloes, Gilissen, Christian, Graham, Sarah A, van Dam, Sipko, Hoover-Fong, Julie, Telegrafi, Aida B, Destree, Anne, Smigiel, Robert, Lambie, Lindsday A, Kayserili, Hülya, Altunoglu, Umut, Lapi, Elisabetta, Uzielli, Maria Luisa, Aracena, Mariana, Nur, Banu G, Mihci, Ercan, Moreira, Lilia M A, Borges Ferreira, Viviane, Horovitz, Dafne D G, da Rocha, Katia M, Jezela-Stanek, Aleksandra, Brooks, Alice S, Reutter, Heiko, Cohen, Julie S, Fatemi, Ali, Smitka, Martin, Grebe, Theresa A, Di Donato, Nataliya, Deshpande, Charu, Vandersteen, Anthony, Marques Lourenço, Charles, Dufke, Andreas, Rossier, Eva, Andre, Gwenaelle, Baumer, Alessandra, Spencer, Careni, McGaughran, Julie, Franke, Lude, Veltman, Joris A, De Vries, Bert B A, Schinzel, Albert, Fisher, Simon E, Hoischen, Alexander, van Bon, Bregje W
Published in PLoS genetics (27.03.2017)
Published in PLoS genetics (27.03.2017)
Get full text
Journal Article
Impact of the implantable cardioverter defibrillator on confidence to undertake physical activity in inherited heart disease: A cross-sectional study
Sweeting, Joanna, Ball, Kylie, McGaughran, Julie, Atherton, John, Semsarian, Christopher, Ingles, Jodie
Published in European journal of cardiovascular nursing : journal of the Working Group on Cardiovascular Nursing of the European Society of Cardiology (01.12.2017)
Published in European journal of cardiovascular nursing : journal of the Working Group on Cardiovascular Nursing of the European Society of Cardiology (01.12.2017)
Get more information
Journal Article
Further delineation of the KAT6B molecular and phenotypic spectrum
Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt-Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T, Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E, Kohlhase, Jürgen, Lo, Ivan F M, Smith, Janine, Clayton-Smith, Jill
Published in European journal of human genetics : EJHG (01.09.2015)
Published in European journal of human genetics : EJHG (01.09.2015)
Get full text
Journal Article
Expansion of phenotype of DDX3X syndrome: six new cases
Beal, Bryony, Hayes, Ian, McGaughran, Julie, Amor, David J, Miteff, Christina, Jackson, Victoria, van Reyk, Olivia, Subramanian, Gopinath, Hildebrand, Michael S, Morgan, Angela T, Goel, Himanshu
Published in Clinical dysmorphology (01.10.2019)
Published in Clinical dysmorphology (01.10.2019)
Get more information
Journal Article
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
Hüffmeier, Ulrike, Kraus, Cornelia, Reuter, Miriam S, Uebe, Steffen, Abbott, Mary-Alice, Ahmed, Syed A, Rawson, Kristyn L, Barr, Eileen, Li, Hong, Bruel, Ange-Line, Faivre, Laurence, Tran Mau-Them, Frédéric, Botti, Christina, Brooks, Susan, Burns, Kaitlyn, Ward, D Isum, Dutra-Clarke, Marina, Martinez-Agosto, Julian A, Lee, Hane, Nelson, Stanley F, Zacher, Pia, Abou Jamra, Rami, Klöckner, Chiara, McGaughran, Julie, Kohlhase, Jürgen, Schuhmann, Sarah, Moran, Ellen, Pappas, John, Raas-Rothschild, Annick, Sacoto, Maria J Guillen, Henderson, Lindsay B, Palculict, Timothy Blake, Mullegama, Sureni V, Zghal Elloumi, Houda, Reich, Adi, Schrier Vergano, Samantha A, Wahl, Erica, Reis, André, Zweier, Christiane
Published in Orphanet journal of rare diseases (18.03.2021)
Published in Orphanet journal of rare diseases (18.03.2021)
Get full text
Journal Article
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology
Sobering, Andrew K., Bryant, Laura M., Li, Dong, McGaughran, Julie, Maystadt, Isabelle, Moortgat, Stephanie, Graham, John M., van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Vogt, Julie, Morton, Jenny, Brasch-Andersen, Charlotte, Steenhof, Maria, Hansen, Lars Kjærsgaard, Adler, Élodie, Lyonnet, Stanislas, Pingault, Veronique, Sandrine, Marlin, Ziegler, Alban, Donald, Tyhiesia, Nelson, Beverly, Holt, Brandon, Petryna, Oleksandra, Firth, Helen, McWalter, Kirsty, Zyskind, Jacob, Telegrafi, Aida, Juusola, Jane, Person, Richard, Bamshad, Michael J., Earl, Dawn, Tsai, Anne Chun-Hui, Yearwood, Katherine R., Marco, Elysa, Nowak, Catherine, Douglas, Jessica, Hakonarson, Hakon, Bhoj, Elizabeth J.
Published in HGG advances (14.07.2022)
Published in HGG advances (14.07.2022)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article