Tiao, Grace

Analysis of protein-coding genetic variation in 60,706 humans

Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 9,587

The mutational constraint spectrum quantified from variation in 141,456 humans

Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alföldi, J., Wang, Q., Collins, R. L., Laricchia, K. M., Ganna, A., Birnbaum, D. P., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 9,434

Integrated genomic characterization of pancreatic ductal adenocarcinoma

Raphael, B. J., Hruban, R. H., Aguirre, A. J., Moffitt, R. A., Yeh, J. J., Stewart, C., Robertson, A. G., Cherniack, A. D., Gupta, M., Getz, G., et al. (2017) · Cancer Cell

Pancreatic and Hepatic Oncology ResearchCancer Genomics and Diagnostics

Cited by 2,019

A genomic mutational constraint map using variation in 76,156 human genomes

Chen, S., Francioli, L. C., Goodrich, J. K., Collins, R. L., Kanai, M., Wang, Q., Alföldi, J., Watts, N. A., Vittal, C., Gauthier, L. D., et al. (2024) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,727

The mutational constraint spectrum quantified from variation in 141,456 humans

Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alföldi, J., Wang, Q., Collins, R. L., Laricchia, K. M., Ganna, A., Birnbaum, D. P., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory)

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,662

The evolutionary history of 2,658 cancers

Gerstung, M., Jolly, C., Leshchiner, I., Dentro, S. C., Gonzalez, S., Rosebrock, D., Mitchell, T. J., Rubanova, Y., Anur, P., Yu, K., et al. (2020) · Nature

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

Cited by 1,057

Rare coding variants in ten genes confer substantial risk for schizophrenia

Singh, T., Poterba, T., Curtis, D., Akil, H., Al Eissa, M., Barchas, J. D., Bass, N., Bigdeli, T. B., Breen, G., Bromet, E. J., et al. (2022) · Nature

Schizophrenia research and treatmentGenetic Associations and Epidemiology

Cited by 983

Patterns of somatic structural variation in human cancer genomes

Li, Y., Roberts, N. D., Wala, J. A., Shapira, O., Schumacher, S. E., Kumar, K., Khurana, E., Waszak, S., Korbel, J. O., Haber, J. E., et al. (2020) · Nature

Cancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities

Cited by 867

A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer

Polak, P., Kim, J., Braunstein, L. Z., Karlic, R., Haradhavala, N. J., Tiao, G., Rosebrock, D., Livitz, D., Kübler, K., Mouw, K. W., et al. (2017) · Nature Genetics

BRCA gene mutations in cancerCancer Genomics and Diagnostics

Cited by 531

Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

Rodriguez-Martin, B., Alvarez, E. G., Baez-Ortega, A., Zamora, J., Supek, F., Demeulemeester, J., Santamarina, M., Ju, Y. S., Temes, J., Garcia-Souto, D., et al. (2020) · Nature Genetics

Genomic variations and chromosomal abnormalitiesCancer Genomics and Diagnostics

Cited by 451

Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes

Karczewski, K. J., Solomonson, M., Chao, K. R., Goodrich, J. K., Tiao, G., Lu, W., Riley-Gillis, B. M., Tsai, E. A., Kim, H. I., Zheng, X., et al. (2022) · Cell Genomics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 284

Quantifying constraint in the human mitochondrial genome

Lake, N. J., Liu, W., Battle, S. L., Laricchia, K. M., Tiao, G., Puiu, D., Compton, A. G., Cowie, S., Christodoulou, J., Thorburn, D. R., et al. (2022) · Nature

Genomics and Rare DiseasesMitochondrial Function and Pathology

Cited by 63

Quantifying constraint in the human mitochondrial genome

Lake, N. J., Ma, K., Liu, W., Battle, S. L., Laricchia, K. M., Tiao, G., Puiu, D., Ng, K. K., Cohen, J., Compton, A. G., et al. (2024) · Nature

Genomics and Rare DiseasesMitochondrial Function and Pathology

Cited by 63