Meta-analysis and multidisciplinary consensus statement: exomesequencing is a first-tier clinical diagnostic test for individuals withneurodevelopmental disorders

PurposeFor neurodevelopmental disorders (NDDs), etiological evaluation can be a diagnostic odyssey involving numerous genetic tests, underscoring the need to develop a streamlined algorithm maximizing molecular diagnostic yield for this clinical indication. Our objective was to compare the yield of...

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Veröffentlicht in:Genetics in medicine 2019-11, Vol.21 (11), p.2413-2421
Hauptverfasser: Srivastava Siddharth, Love-Nichols, Jamie A, Dies, Kira A, Ledbetter, David H, Martin, Christa L, Chung, Wendy K, Firth, Helen V, Frazier, Thomas, Hansen, Robin L, Prock, Lisa, Brunner, Han, Ny, Hoang, Scherer, Stephen W, Sahin Mustafa, Miller, David T
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Sprache:eng
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