Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander people by Joanne Luke, Philippa Dalach, Lindsay Tuer, Ravi Savarirayan, Angeline Ferdinand, Julie McGaughran, Emma Kowal, Libby Massey, Gail Garvey, Hugh Dawkins, Misty Jenkins, Yin Paradies, Glenn Pearson, Chloe A. Stutterd, Gareth Baynam, Margaret Kelaher

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Antisense‐mediated exon skipping: a therapeutic strategy for titin‐based dilated cardiomyopathy by Michael Gramlich, Luna Simona Pane, Qifeng Zhou, Zhifen Chen, Marta Murgia, Sonja Schötterl, Alexander Goedel, Katja Metzger, Thomas Brade, Elvira Parrotta, Martin Schaller, Brenda Gerull, Ludwig Thierfelder, Annemieke Aartsma‐Rus, Siegfried Labeit, John J Atherton, Julie McGaughran, Richard P Harvey, Daniel Sinnecker, Matthias Mann, Karl‐Ludwig Laugwitz, Meinrad Paul Gawaz, Alessandra Moretti

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Clinical and genetic features of Australian families with long QT syndrome: A registry-based study by Charlotte Burns, MPH, MGC (Associate Professor), Jodie Ingles, GradDipGenCouns, MPH, PhD (Associate Professor), Andrew M. Davis, MBBS (Associate Professor), Vanessa Connell, RN (Associate Professor), Belinda Gray, MBBS (Associate Professor), Lauren Hunt, BSc, MSc (Associate Professor), Julie McGaughran, MBChB, MD (Professor), Christopher Semsarian, MBBS, PhD, MPH (Professor)

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Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology by Andrew K. Sobering, Laura M. Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stephanie Moortgat, John M. Graham, Jr., Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Julie Vogt, Jenny Morton, Charlotte Brasch-Andersen, Maria Steenhof, Lars Kjærsgaard Hansen, Élodie Adler, Stanislas Lyonnet, Veronique Pingault, Marlin Sandrine, Alban Ziegler, Tyhiesia Donald, Beverly Nelson, Brandon Holt, Oleksandra Petryna, Helen Firth, Kirsty McWalter, Jacob Zyskind, Aida Telegrafi, Jane Juusola, Richard Person, Michael J. Bamshad, Dawn Earl, Anne Chun-Hui Tsai, Katherine R. Yearwood, Elysa Marco, Catherine Nowak, Jessica Douglas, Hakon Hakonarson, Elizabeth J. Bhoj

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Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology by Andrew K. Sobering, Laura M. Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stephanie Moortgat, John M. Graham, Jr., Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Julie Vogt, Jenny Morton, Charlotte Brasch-Andersen, Maria Steenhof, Lars Kjærsgaard Hansen, Élodie Adler, Stanislas Lyonnet, Veronique Pingault, Marlin Sandrine, Alban Ziegler, Tyhiesia Donald, Beverly Nelson, Brandon Holt, Oleksandra Petryna, Helen Firth, Kirsty McWalter, Jacob Zyskind, Aida Telegrafi, Jane Juusola, Richard Person, Michael J. Bamshad, Dawn Earl, Anne Chun-Hui Tsai, Katherine R. Yearwood, Elysa Marco, Catherine Nowak, Jessica Douglas, Hakon Hakonarson, Elizabeth J. Bhoj

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Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. by Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel, Lindsday A Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G Nur, Ercan Mihci, Lilia M A Moreira, Viviane Borges Ferreira, Dafne D G Horovitz, Katia M da Rocha, Aleksandra Jezela-Stanek, Alice S Brooks, Heiko Reutter, Julie S Cohen, Ali Fatemi, Martin Smitka, Theresa A Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A Veltman, Bert B A De Vries, Albert Schinzel, Simon E Fisher, Alexander Hoischen, Bregje W van Bon

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The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation by Alison D. Archibald, Belinda J. McClaren, Jade Caruana, Erin Tutty, Emily A. King, Jane L. Halliday, Stephanie Best, Anaita Kanga-Parabia, Bruce H. Bennetts, Corrina C. Cliffe, Evanthia O. Madelli, Gladys Ho, Jan Liebelt, Janet C. Long, Jeffrey Braithwaite, Jillian Kennedy, John Massie, Jon D. Emery, Julie McGaughran, Justine E. Marum, Kirsten Boggs, Kristine Barlow-Stewart, Leslie Burnett, Lisa Dive, Lucinda Freeman, Mark R. Davis, Martin J. Downes, Mathew Wallis, Monica M. Ferrie, Nicholas Pachter, Paul A. Scuffham, Rachael Casella, Richard J. N. Allcock, Royston Ong, Samantha Edwards, Sarah Righetti, Sebastian Lunke, Sharon Lewis, Susan P. Walker, Tiffany F. Boughtwood, Tristan Hardy, Ainsley J. Newson, Edwin P. Kirk, Nigel G. Laing, Martin B. Delatycki, The Mackenzie’s Mission Study Team

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