Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy

by Hooi Ling Teoh, Kate Carey, Hugo Sampaio, David Mowat, Tony Roscioli, Michelle Farrar
Published 2017-01-01

A longitudinal study of change in substance use from before to during the COVID-19 pandemic in young adults

by Marie-Pierre Sylvestre, Gillis Delmas Tchouangue Dinkou, Mounia Naja, Teodora Riglea, Annie Pelekanakis, Mathieu Bélanger, Katerina Maximova, David Mowat, Gilles Paradis, Jennifer O'Loughlin
Published 2022-04-01

The Role of ZEB2 in Human CD8 T Lymphocytes: Clinical and Cellular Immune Profiling in Mowat–Wilson Syndrome

by Katie Frith, C. Mee Ling Munier, Lucy Hastings, David Mowat, Meredith Wilson, Nabila Seddiki, Rebecca Macintosh, Anthony D. Kelleher, Paul Gray, John James Zaunders
Published 2021-05-01

Approvisionnement en aliments sains et normes nutritionnelles dans les établissements publics : synthèse des données probantes et recommandations stratégiques consensuelles

by Kim D. Raine, Kayla Atkey, Dana Lee Olstad, Alexa R. Ferdinands, Dominique Beaulieu, Susan Buhler, Norm Campbell, Brian Cook, Mary L’Abbé, Ashley Lederer, David Mowat, Joshna Maharaj, Candace Nykiforuk, Jacob Shelley, Jacqueline Street
Published 2018-01-01

Healthy food procurement and nutrition standards in public facilities: evidence synthesis and consensus policy recommendations

by Kim D. Raine, Kayla Atkey, Dana Lee Olstad, Alexa R. Ferdinands, Dominique Beaulieu, Susan Buhler, Norm Campbell, Brian Cook, Mary L’Abbé, Ashley Lederer, David Mowat, Joshna Maharaj, Candace Nykiforuk, Jacob Shelley, Jacqueline Street
Published 2018-01-01

Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of life

by John Christodoulou, Claire Wakefield, Adam Jaffe, David S Armstrong, Hiran Selvadurai, Andre Schultz, Tim McDonald, David Mowat, Joanne Harrison, BRUCE BENNETTS, Nitin Kapur, Andrew Tai, Gladys Ho, Lauren Kelada, Nada Vidic, Kirsten Boggs, Suzanna Lindsey-Temple
Published 2022-02-01

Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders

by Tobias Geis, Tanja Rödl, Haluk Topaloğlu, Burcu Balci-Hayta, Sophie Hinreiner, Wolfgang Müller-Felber, Benedikt Schoser, Yasmin Mehraein, Angela Hübner, Birgit Zirn, Markus Hoopmann, Heiko Reutter, David Mowat, Gerhard Schuierer, Ulrike Schara, Ute Hehr, Heike Kölbel
Published 2019-07-01

Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.

by Megan H Brewer, Rabia Chaudhry, Jessica Qi, Aditi Kidambi, Alexander P Drew, Manoj P Menezes, Monique M Ryan, Michelle A Farrar, David Mowat, Gopinath M Subramanian, Helen K Young, Stephan Zuchner, Stephen W Reddel, Garth A Nicholson, Marina L Kennerson
Published 2016-07-01

The role of exome sequencing in childhood interstitial or diffuse lung disease

by Suzanna E. L. Temple, Gladys Ho, Bruce Bennetts, Kirsten Boggs, Nada Vidic, David Mowat, John Christodoulou, André Schultz, Thet Gayagay, Tony Roscioli, Ying Zhu, Sebastian Lunke, David Armstrong, Joanne Harrison, Nitin Kapur, Tim McDonald, Hiran Selvadurai, Andrew Tai, Zornitza Stark, Adam Jaffe
Published 2022-09-01

A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship

by Rachel Austin, Jaye S. Brown, Sarah Casauria, Evanthia O. Madelli, Tessa Mattiske, Tiffany Boughtwood, Alejandro Metke, Andrew Davis, Ari E. Horton, David Winlaw, Debjani Das, Magdalena Soka, Eleni Giannoulatou, Emma M. Rath, Eric Haan, Gillian M. Blue, Jitendra Vohra, John J. Atherton, Karin van Spaendonck-Zwarts, Kathy Cox, Leslie Burnett, Mathew Wallis, Matilda Haas, Michael C.J. Quinn, Nicholas Pachter, Nicola K. Poplawski, Zornitza Stark, Richard D. Bagnall, Robert G. Weintraub, Sarah-Jane Pantaleo, Sebastian Lunke, Paul De Fazio, Tina Thompson, Paul James, Yuchen Chang, Diane Fatkin, Ivan Macciocca, Jodie Ingles, Sally L. Dunwoodie, Chris Semsarian, Julie McGaughran, Lesley Ades, Annabel Enriquez, Alison McLean, Renee Smyth, Dimithu Alankarage, Diane Fatkin, James McNamara, Magdalena Soka, Morgan almog, Vanessa Fear, Caroline Medi, Zornitza Stark, Mohammad Al-Shinnag, Miriam Fine, Alejandro Metke, Raymond Sy, John J. Atherton, Keri Finlay, Di Milnes, Dotti Tang, Rachel Austin, Denisse Garza, Michael Milward, Jessica Taylor, Richard D. Bagnall, Eleni Giannoulatou, Ansley Morrish, Shelby Taylor, Chris Barnett, Laura Gongolidis, Jim Morwood, Michel Tchan, Gillian M. Blue, Belinda Gray, Helen Mountain, Tina Thompson, Simon Bodek, Cassie Greer, David Mowat, Jordan Thorpe, Kirsten Boggs, Eric Haan, Chai-Ann Ng, Alison Trainer, Michael Bogwitz, Mathilda Haas, Natalie Nowak, Gunjan Trivedi, Tiffany Boughtwood, Bernadette Hanna, Noelia Nunez Martinez, Giulia Valente, Alessandra Bray, Richard Harvey, Monique Ohanian, Karin van Spaendonck-Zwarts, Marie-Jo Brion, Janette Hayward, Sinead O’Sullivan, Jamie Vandenberg, Jaye Brown, Carmen Herrera, Angela Overkov, Kunal Verma, Rob Bryson Richardson, Adam Hill, Nicholas Pachter, Miranda Vidgen, Leslie Burnett, Georgie Hollingsworth, Chirag Patel, Jitendra Vohra, Charlotte Burns, Georgina Hollway, Mark Perrin, Kathryn Waddel-Smith, Michelle Cao, Ari E. Horton, Matthew Perry, Mathew Wallis, Will Carr, Denise Howting, Andreas Pflaumer, Robert G. Weintraub, Sarah Casauria, Jodie Ingles, Peta Phillips, Meredith Wilson, Heather Chalinor, Joanne Isbister, Thuan Phuong, David Winlaw, Yuchen Chang, Matilda Jackson, Rachel Pope-Couston, Lisa Worgan, Gavin Chapman, Paul James, Nicola K. Poplawski, Linda Wornham, Theosodia Charitou, Sarah Jane-Pantaleo, Preeti Punni, Kathy Wu, Belinda Chong, Renee Johnson, Michael C.J. Quinn, Laura Yeates, Felicity Collins, Andrew Kelly, Michael Quinn, Dominica Zentner, Gemma Correnti, Sarah King-Smith, Sulekha Rajagopalan, Kathy Cox, Edwin Kirk, Hariharan Raju, Fiona Cunningham, Sarah Kummerfeld, Emma M. Rath, Debjani Das, Timo Lassman, Matthew Regan, Jason Davis, Jonathon Lipton, Jonathan Rogers, Andrew Davis, Sebastian Lunke, Mark Ryan, Paul De Fazio, Ivan Macciocca, Sarah Sandaradura, Michelle de Silva, Paul MacIntyre, Nicole Schonrock, Nicola Den Elzen, Evanthia O. Madelli, Paul Scuffham, Sophie Devery, Amali Mallawaarachchi, Chris Semsarian, Julia Dobbins, Julia Mansour, Isabella Sherburn, Sally L. Dunwoodie, Ellenore Martin, Mary-Clare Sherlock, Nathan Dwyer, Jacob Mathew, Emma Singer, Stefanie Elbracht-Leong, Tessa Mattiske, Carla Smerdon, David Elliott, Julie McGaughran, Janine Smith
Published 2024-01-01