Julia Bell worked in twentieth-century Britain, discovered Fragile X Syndrome, and helped find heritable elements of other developmental and genetic disorders. Bell also wrote much of the five volume Treasury of Human Inheritance, a collection about genetics and genetic disorders. Bell researched until late in life, authoring an original research article on the effects of the rubella virus of fetal development (Congenital Rubella Syndrome) at the age of 80.

In 1998, researchers Laura Mazzanti and Emanuele Cacciari published “Congenital Heart Disease in Patients with Turner’s Syndrome,” hereafter “Congenital Heart Disease,” in The Journal of Pediatrics. Turner syndrome is a genetic disorder caused by a missing X chromosome and affects one in 1,500 to 2,500 female births. Turner syndrome can result in various developmental issues, such as stunted physical and sexual growth, infertility, and congenital heart disease, or developmental malformations of the heart. At the time of publication, other researchers had established a link between congenital heart defects and Turner syndrome. However, there was little research on the relationship between what specific chromosomal pattern a person had and the types of congenital heart defects that a person presented with. “Congenital Heart Disease” established links between certain types of chromosomal patterns with various congenital heart defects, which the authors argue should allow for improved medical intervention and a better quality of life for people with Turner syndrome.