Aparna Prasad

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Publications (22)

• The Temple Grandin Genome: Comprehensive Analysis in a Scientist with High-Functioning Autism
  Journal of Personalized Medicine 2020 DOI: 10.3390/jpm11010021
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• Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis
  BMC Medical Genetics 2018 DOI: 10.1186/s12881-018-0555-3
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• Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders using an ultra-high resolution chromosomal microarray optimized for neurodevelopmental disorders
  International Journal of Molecular Sciences 2016
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• Identification of Gene Mutations and Fusion Genes in Patients with Sézary Syndrome
  Journal of Investigative Dermatology 2016 DOI: 10.1016/j.jid.2016.03.024
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• Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures
  Human Molecular Genetics 2013 DOI: 10.1093/hmg/ddt056
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• A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder
  G3-Genes Genomes Genetics 2012 DOI: 10.1534/g3.112.004689
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• Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder
  American Journal of Human Genetics 2012 DOI: 10.1016/j.ajhg.2011.11.025
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• SHANK1 Deletions in Males with Autism Spectrum Disorder
  American Journal of Human Genetics 2012 DOI: 10.1016/j.ajhg.2012.03.017
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• Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants
  Nature Biotechnology 2011 DOI: 10.1038/nbt.1852
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• Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder
  Clinical Genetics 2011 DOI: 10.1111/j.1399-0004.2010.01578.x
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