Gonzaga-Jauregui, Claudia

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

Lupski, J. R., Reid, J. G., Gonzaga-Jauregui, C., Rio Deiros, D., Chen, D. C. Y., Nazareth, L., Bainbridge, M., Dinh, H., Jing, C., Wheeler, D. A., et al. (2010) · New England Journal of Medicine

Hereditary Neurological DisordersGenomics and Rare Diseases

Cited by 759

Exome sequencing and characterization of 49,960 individuals in the UK Biobank

Van Hout, C. V., Tachmazidou, I., Backman, J. D., Hoffman, J. D., Liu, D., Pandey, A. K., Gonzaga-Jauregui, C., Khalid, S., Ye, B., Banerjee, N., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 561

Genetic identification of familial hypercholesterolemia within a single U.S. health care system

Abul-Husn, N. S., Manickam, K., Jones, L. K., Wright, E. A., Hartzel, D. N., Gonzaga-Jauregui, C., O’Dushlaine, C., Leader, J. B., Lester Kirchner, H., Lindbuchler, D. M., et al. (2016) · Science

Lipoproteins and Cardiovascular HealthGenomics and Rare Diseases

Cited by 425

Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial

Rosenson, R. S., Gaudet, D., Ballantyne, C. M., Baum, S. J., Bergeron, J., Kershaw, E. E., Moriarty, P. M., Rubba, P., Whitcomb, D. C., Banerjee, P., et al. (2023) · Nature Medicine

Lipid metabolism and disordersPancreatitis Pathology and Treatment

Cited by 140

Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank

Van Hout, C. V., Tachmazidou, I., Backman, J. D., Hoffman, J. X., Ye, B., Pandey, A. K., Gonzaga-Jauregui, C., Khalid, S., Liu, D., Banerjee, N., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory)

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 110

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

Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis

Prada, C. E., Gonzaga-Jauregui, C., Tannenbaum, R., Penney, S., Lupski, J. R., Hopkin, R. J., & Sutton, V. R. (2014) · European Journal of Medical Genetics

Lysosomal Storage Disorders ResearchMetabolism and Genetic Disorders

Cited by 29