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Aparna Prasad
Biomedicine
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Article
Open AccessRare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders
Ultra-rare genetic variants, including non-recurrent copy number variations (CNVs) affecting important dosage-sensitive genes, are important contributors to the etiology of neurodevelopmental disorders (NDDs)....
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Article
Open AccessClinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis
Chromosomal microarray analysis (CMA) is recommended as the first-tier clinical diagnostic test for individuals with developmental disabilities. In addition to detecting copy number variations, CMA platforms w...
