Scholarly Works - Book sections
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January 1, 2022
The collection of single nucleotide and copy number variants within an individual forms a genetic backdrop that influences how a person looks, grows, and physiologically responds to stressors such as a disease or medication. High-frequency sequence variant ...
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January 1, 2022
The genomic era has provided us with the structure of the human genome. When this is combined with classic genetics that includes an understanding of meiosis, mitosis, and Mendelian inheritance, readers are positioned to understand the many mechanisms that ...
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January 1, 2020
Carrier screening is defined as testing performed on individuals to assess whether they carry one allele for a genetic condition for which they do not have the phenotype. This chapter reviews specific genetic conditions for which carrier screening is most ...
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January 1, 2019
Soft ultrasound markers were initially described as a screening method for trisomy 21 to improve the detection rate over that based on age-related risk alone. In this chapter, we discuss the implications of isolated soft markers in the context of contempor ...
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January 1, 2019
Congenital heart disease (CHD) refers to a “gross structural abnormality of the heart or intrathoracic great vessels that is actually or potentially of functional significance” [1]. Congenital heart disease is the most common congenital anomaly and makes u ...
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