Tang, Sha

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Küry, S., van Woerden, G. M., Besnard, T., Proietti Onori, M., Latypova, X., Towne, M. C., Cho, M. T., Prescott, T. E., Ploeg, M. A., Sanders, S., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 185

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy

Peng, Y., Shinde, D. N., Valencia, C. A., Mo, J.-S., Rosenfeld, J., Truitt Cho, M., Chamberlin, A., Li, Z., Liu, J., Gui, B., et al. (2017) · Human Molecular Genetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 60

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Farwell Hagman, K. D., Shinde, D. N., Mroske, C., Smith, E., Radtke, K., Shahmirzadi, L., El-Khechen, D., Powis, Z., Chao, E. C., Alcaraz, W. A., et al. (2017) · Genetics in Medicine

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 54