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

Siddharth Srivastava, Jamie A. Love-Nichols, Kira A. Dies, David H. Ledbetter, Christa L. Martin, Wendy K. Chung, Helen Firth, Thomas Frazier, Robin L. Hansen, Lisa Prock, Han Brunner, Ny Hoang, Stephen W. Scherer, Mustafa Sahin*, David T. Miller, Bibiana Restrepo, Suma Shankar, Erin Rooney Riggs, Pete Constantinou, Anne Reed-WestonR. Spencer Tong, Jennifer Howe, Janet Buchanan, Rachel Fisher, Sonal Mahida, NDD Exome Scoping Review Work Grp

*Corresponding author for this work

Research output: Contribution to journalReview articleAcademicpeer-review

Original languageEnglish
Pages (from-to)2413-2421
Number of pages9
JournalGenetics in Medicine
Volume21
Issue number11
DOIs
Publication statusPublished - Nov 2019

Keywords

  • autism
  • consensus development conference
  • diagnostic yield
  • genetic testing
  • intellectual disability
  • AUTISM SPECTRUM DISORDERS
  • CHROMOSOMAL MICROARRAY
  • INTELLECTUAL DISABILITY
  • MEDICAL GENETICS
  • AMERICAN-COLLEGE
  • UTILITY
  • IMPACT
  • IDENTIFICATION
  • GUIDELINES
  • MANAGEMENT

Cite this

Srivastava, S., Love-Nichols, J. A., Dies, K. A., Ledbetter, D. H., Martin, C. L., Chung, W. K., Firth, H., Frazier, T., Hansen, R. L., Prock, L., Brunner, H., Hoang, N., Scherer, S. W., Sahin, M., Miller, D. T., Restrepo, B., Shankar, S., Riggs, E. R., Constantinou, P., ... NDD Exome Scoping Review Work Grp (2019). Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genetics in Medicine, 21(11), 2413-2421. https://doi.org/10.1038/s41436-019-0554-6