Publications by authors named "Stacey Eggert"

Article Synopsis
  • CNVs (copy-number variants) are crucial in studying genetic structural variations and chromosomal microarray is the recommended tool for diagnosing neurodevelopmental disorders like autism.
  • A study on 259 individuals with autism highlighted complex rearrangements, particularly a common class called dupINVdup, which involves paired duplications flanking an inversion and is often overlooked by traditional testing methods.
  • The research found that these complex variants, along with other duplication patterns, are more common than previously thought, pointing to the need for more detailed genetic testing to better understand their clinical significance in autism diagnosis.
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Structural variation (SV) is a significant component of the genetic etiology of both neurodevelopmental and psychiatric disorders; however, routine guidelines for clinical genetic screening have been established only in the former category. Genome-wide chromosomal microarray (CMA) can detect genomic imbalances such as copy-number variants (CNVs), but balanced chromosomal abnormalities (BCAs) still require karyotyping for clinical detection. Moreover, submicroscopic BCAs and subarray threshold CNVs are intractable, or cryptic, to both CMA and karyotyping.

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Uterine leiomyomata (UL), the most prevalent pelvic tumors in women of reproductive age, pose a major public health problem given their high frequency, associated morbidities, and most common indication for hysterectomies. A genetic component to UL predisposition is supported by analyses of ethnic predisposition, twin studies, and familial aggregation. A genome-wide SNP linkage panel was genotyped and analyzed in 261 white UL-affected sister-pair families from the Finding Genes for Fibroids study.

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