Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort
2024; Elsevier BV; Volume: 26; Issue: 5 Linguagem: Inglês
10.1016/j.gim.2024.101076
ISSN1530-0366
AutoresKerith‐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 Fennell, Alison Yeung, Tiffany Boughtwood, Lisa Ewans, Jennifer Kerkhof, Christopher Lucas, Louise Carey, Hugh J. French, Melissa Rapadas, Igor Stevanovski, Ira W. Deveson, Corrina Cliffe, George Elakis, Edwin P. Kirk, Tracy Dudding‐Byth, Janice M. Fletcher, Rebecca Walsh, Mark Corbett, Thessa Kroes, Jozef Gécz, Cliff Meldrum, Simon T. Cliffe, Meaghan Wall, Sebastian Lunke, Kathryn N. North, David J. Amor, Michael Field, Bekim Sadiković, Michael F. Buckley, Anne O’Donnell‐Luria, Tony Roscioli,
Tópico(s)Genomic variations and chromosomal abnormalities
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