Tan, Tiong Y.

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Rice, G. I., Kasher, P. R., Forte, G. M. A., Mannion, N. M., Greenwood, S. M., Szynkiewicz, M., Dickerson, J. E., Bhaskar, S. S., Zampini, M., Briggs, T. A., et al. (2012) · Nature Genetics

RNA regulation and diseaseinterferon and immune responses

Cited by 923

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

Clark, M. M., Stark, Z., Farnaes, L., Tan, T. Y., White, S. M., Dimmock, D., & Kingsmore, S. F. (2018) · npj Genomic Medicine

Genomics and Rare DiseasesPrenatal Screening and Diagnostics

Cited by 619

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

Australian Genomics Health Alliance Acute Care Flagship, Lunke, S., Eggers, S., Wilson, M., Patel, C., Barnett, C. P., Pinner, J., Sandaradura, S. A., Buckley, M. F., Krzesinski, E. I., et al. (2020) · JAMA

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 239

Meeting the challenges of implementing rapid genomic testing in acute pediatric care.

Stark, Z., Lunke, S., Brett, G. R., Tan, N. B., Stapleton, R., Kumble, S., Yeung, A., Phelan, D. G., Chong, B., Fanjul-Fernandez, M., et al. (2018) · Genetics in Medicine

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 159

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Kennedy, J., Goudie, D., Blair, E., Chandler, K., Joss, S., McKay, V., Green, A., Armstrong, R., Lees, M., Kamien, B., et al. (2019) · Genetics in Medicine

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 107

Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions

Tan, T. Y., Gonzaga-Jauregui, C., Bhoj, E. J., Strauss, K. A., Brigatti, K., Puffenberger, E., Li, D., Xie, L., Das, N., Skubas, I., et al. (2017) · The American Journal of Human Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 55

Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing.

Akesson, L. S., Eggers, S., Love, C. J., Chong, B., Krzesinski, E. I., Brown, N. J., Tan, T. Y., Richmond, C. M., Thorburn, D. R., Christodoulou, J., et al. (2019) · European Journal of Human Genetics

Genomics and Rare DiseasesMitochondrial Function and Pathology

Cited by 28

Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability

Francis, D. I., Stark, Z., Scheffer, I. E., Tan, T. Y., Murali, K., Gallacher, L., Amor, D. J., Goel, H., Downie, L., Stutterd, C. A., et al. (2023) · European Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 16