Yulan Shen

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases

Brian T. Naughton, Jason R. Bobe, H. Hakonarson, 2016, Nature Biotechnology.

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect

H. Hakonarson, Yiran Guo, N. Clarke, 2015, Neuromuscular Disorders.

Molecular genetic testing in clinical diagnostic assessments that demonstrate correlations in patients with autosomal recessive inherited retinal dystrophy.

Hui Jiang, Jianguo Zhang, Kanxing Zhao, 2015, JAMA ophthalmology.

Application of Targeted Next-Generation Sequencing in Patients with Autosomal Recessive Inherited Retinal Dystrophies: Improvement of Genetic and Clinical Diagnosis

Jianguo, Hui Jiang, Kanxing Zhao, 2014 .