Deqiong Maمشاهده پروفایل
استادیار
Deqiong Ma is an Assistant Professor in the Department of Genetics at Yale University School of Medicine and Associate Director of the DNA Diagnostic Laboratory. She holds an MD from Tongji Medical University (1991), a PhD from the University of Tasmania (2003), and completed a postdoctoral fellowship at Duke University and a clinical fellowship at Albert Einstein College of Medicine. Her research focuses on genetic and genomic mechanisms underlying autism spectrum disorders, particularly copy number variants (CNVs), structural variation analysis, and clinical diagnostic methodologies. Key research interests include identifying novel genetic risk factors for autism using advanced genomic techniques, such as homozygosity mapping and fine-scale structural variation analysis. Her work bridges clinical genetics and molecular biology, with applications in diagnostic testing and understanding neurodevelopmental disorders. She collaborates extensively on studies involving autism candidate genes (e.g., MBD5, TBL1X) and genomic pathway analysis. Publications emphasize translational research, including diagnostic improvements for pediatric patients and elucidating genetic architecture in autism. She leads efforts in the DNA Diagnostic Lab to integrate genomic data into clinical practice, focusing on regions of homozygosity and uniparental disomy.











