Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort
Resource Type
Article
Authors
Dias, Kerith-Rae ; Shrestha, Rupendra ; Schofield, Deborah ; Evans, Carey-Anne ; O’Heir, Emily ; Zhu, Ying ; Zhang, Futao ; Standen, Krystle ; Weisburd, Ben ; Stenton, Sarah L. ; Sanchis-Juan, Alba ; Brand, Harrison ; Talkowski, Michael E. ; Ma, Alan ; Ghedia, Sondy ; Wilson, Meredith ; Sandaradura, Sarah A. ; Smith, Janine ; Kamien, Benjamin ; Turner, Anne ; Bakshi, Madhura ; Adès, Lesley C. ; Mowat, David ; Regan, Matthew ; McGillivray, George ; Savarirayan, Ravi ; White, Susan M. ; Tan, Tiong Yang ; Stark, Zornitza ; Brown, Natasha J. ; Pérez-Jurado, Luis A. ; Krzesinski, Emma ; Hunter, Matthew F. ; Akesson, Lauren ; Fennell, Andrew Paul ; Yeung, Alison ; Boughtwood, Tiffany ; Ewans, Lisa J. ; Kerkhof, Jennifer ; Lucas, Christopher ; Carey, Louise ; French, Hugh ; Rapadas, Melissa ; Stevanovski, Igor ; Deveson, Ira W. ; Cliffe, Corrina ; Elakis, George ; Kirk, Edwin P. ; Dudding-Byth, Tracy ; Fletcher, Janice ; Walsh, Rebecca ; Corbett, Mark A. ; Kroes, Thessa ; Gecz, Jozef ; Meldrum, Cliff ; Cliffe, Simon ; Wall, Meg ; Lunke, Sebastian ; North, Kathryn ; Amor, David J. ; Field, Michael ; Sadikovic, Bekim ; Buckley, Michael F. ; O’Donnell-Luria, Anne ; Roscioli, Tony
Source
In Genetics in Medicine May 2024 26(5)
Subject
Language
ISSN
1098-3600