Chong, Jessica X.

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

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 Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Chong, J. X., Buckingham, K. J., Jhangiani, S. N., Boehm, C., Sobreira, N., Smith, J. D., Harrell, T. M., McMillin, M. J., Wiszniewski, W., Gambin, T., et al. (2015) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 643

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Boycott, K. M., Rath, A., Chong, J. X., Hartley, T., Alkuraya, F. S., Baynam, G., Brookes, A. J., Brudno, M., Carracedo, A., den Dunnen, J. T., et al. (2017) · The American Journal of Human Genetics

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 447

Estimating the human mutation rate using autozygosity in a founder population.

Campbell, C. D., Chong, J. X., Malig, M., Ko, A., Dumont, B. L., Han, L., Vives, L., O'Roak, B. J., Sudmant, P. H., Shendure, J., et al. (2012) · Nature Genetics

Genomics and Rare DiseasesEvolution and Genetic Dynamics

Cited by 215

A population-based study of autosomal-recessive disease-causing mutations in a founder population.

Chong, J. X., Ouwenga, R., Anderson, R. L., Waggoner, D. J., & Ober, C. (2012) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 55

DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype

Srichomkwun, P., Takamatsu, J., University of Washington Center for Mendelian Genomics, Nickerson, D. A., Bamshad, M. J., Chong, J. X., & Refetoff, S. (2017) · Thyroid

Thyroid Disorders and TreatmentsThyroid Cancer Diagnosis and Treatment

Cited by 25