Detection of Constitutional Structural Variants by Optical Genome Mapping

Author:

Broeckel Ulrich,Iqbal M. Anwar,Levy Brynn,Sahajpal Nikhil,Nagy Peter L.ORCID,Scharer GunterORCID,Rodriguez Vanessa,Bossler AaronORCID,Stence Aaron,Skinner Cindy,Skinner Steven A.,Kolhe RavindraORCID,Stevenson RogerORCID

Publisher

Elsevier BV

Reference65 articles.

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3. Prevalence and trends of developmental disabilities among children in the United States: 2009-2017;Zablotsky;Pediatrics,2019

4. An integrated map of structural variation in 2,504 human genomes;Sudmant;Nature,2015

5. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies;Miller;Am J Hum Genet,2010

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