Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

• Published in: Genetics in medicine Vol. 21; no. 11; pp. 2413 - 2421
• Main Authors: 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, Hoang, Ny, Scherer, Stephen W., Sahin, Mustafa, Miller, David T.
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.11.2019
• Subjects: Autism Spectrum Disorder - genetics; Biomedical and Life Sciences; Biomedicine; Developmental Disabilities - genetics; Diagnostic Tests, Routine - methods; Exome - genetics; Genetic Testing - methods; Human Genetics; Humans; Intellectual Disability - genetics; Laboratory Medicine; Neurodevelopmental Disorders - diagnosis; Neurodevelopmental Disorders - etiology; Neurodevelopmental Disorders - genetics; Systematic Review; Whole Exome Sequencing - methods; consensus development conference; diagnostic yield; genetic testing; autism; intellectual disability

Purpose For 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...