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American Journal of Human Genetics|March 9, 2010
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalitiesBlake C Ballif, Aaron Theisen, Jill A Rosenfeld, et al.The Journal of Molecular Diagnostics : JMD|February 1, 2022
A Model for Design and Implementation of a Laboratory Information-Management System Specific for Molecular Pathology Laboratory OperationsEban Tomlinson, Jennifer Goodman, Margaret Loftus, et al.American Journal of Human Genetics|October 11, 2011
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorderMichael E Talkowski, Sureni V Mullegama, Jill A Rosenfeld, et al.American Journal of Human Genetics|January 22, 2013
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminusGea Beunders, Els Voorhoeve, Christelle Golzio, et al.Pageof 6