Published in Am J Med Genet A on August 13, 2014
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Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function. Am J Med Genet A (2009) 1.03
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Severe intellectual disability and autistic features associated with microduplication 2q23.1. Eur J Hum Genet (2011) 0.98
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Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay. Am J Med Genet A (2011) 0.84
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An interstitial duplication at 2q24.3 involving the SCN1A, SCN2A, SCN3A genes associated with infantile epilepsy. Am J Med Genet A (2011) 0.83
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A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features. Am J Med Genet A (2011) 0.81
Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing. Am J Med Genet A (2015) 0.81