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Narrowing the Diagnostic Gap: Genomes, Episignatures, Long-Read Sequencing and Health Economic Analyses in an Exome-Negative Intellectual Disability Cohort

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. Ades,David Mowat,Matthew Regan,George McGillivray,Ravi Savarirayan,Susan M. White,Tiong Yang Tan,Zornitza Stark,Natasha J. Brown,Luis A. Perez-Jurado,Emma Krzesinski,Matthew F. Hunter,Lauren Akesson,Andrew Paul Fennell,Alison Yeung,Tiffany Boughtwood,Lisa J. 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

Genetics in medicine official journal of the American College of Medical Genetics（2024）

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关键词
Exome negative,Genome sequencing,Health economics,Intellectual disability,Episignature
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