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Narrowing the diagnostic gap: genomes, episignatures, long-read sequencing and health economic analyses in an exome-negative intellectual disability cohort


Authors: Kerith-Rae Dias, Rupendra Shrestha, Deborah Schofield, Carey-Anne Evans, Emily O’Heir, Ying Zhu, Futao Zhang, Krystle Standen, Ben Weisburd, Sarah L. Stenton, Alba Sanchis-Juan, Harrison Brand, Michael E. Talkowski, Alan Ma, Sondy Ghedia, Meredith Wilson, Sarah A. Sandaradura, Janine Smith, Benjamin Kamien, Anne Turner, Madhura Bakshi, Lesley C. Adès, David Mowat, Matthew Regan, George McGillivray, Ravi Savarirayan, Susan M. White, Tiong Yang Tan, Zornitza Stark, Natasha J. Brown, Luis A. Pérez-Jurado, Emma Krzesinski, Matthew F. Hunter, Lauren Akesson, Andrew Paul Fennell, Alison Yeung, Tiffany Boughtwood, Lisa Ewans, Jennifer Kerkhof, Christopher Lucas, Louise Carey, Hugh French, Melissa Rapadas, Igor Stevanovski, Ira W. Deveson, Corrina Cliffe, George Elakis, Edwin P. Kirk, Tracy Dudding-Byth, Janice Fletcher, Rebecca Walsh, Mark A. Corbett, Thessa Kroes, Jozef Gecz, Cliff Meldrum, Simon Cliffe, Meg Wall, Sebastian Lunke, Kathryn North, David J. Amor, Michael Field, Bekim Sadikovic, Michael F Buckley, Anne O'Donnell-Luria, Tony Roscioli

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