Disorders of Sex Development: New Approaches to Inform Clinical Care.

我的研究生涯一直专注于识别性发育障碍（DSD）的原因，这通常是由于睾丸或卵巢发育不正常造成的。这些情况特别难以诊断，使其临床管理极其困难。我开发了一种新的（基因组）测试，将DSD患者的诊断率从13%提高到43%。诊断率的显著提高极大地促进了临床管理并改善了患者的预后。

My research career has focused on identifying the causes of disorders of sex development (DSD) which often result from failure of the testis or ovary to develop properly. These conditions are particularly hard to diagnose making their clinical management extremely difficult. I have developed a new (genomic) test that has improved diagnostic rates in DSD patients from 13% to 43%. This dramatic increase diagnosis has greatly facilitated clinical management and improved patient outcomes.