Lowther, Chelsea

A structural variation reference for medical and population genetics

Collins, R. L., Brand, H., Karczewski, K. J., Zhao, X., Alföldi, J., Francioli, L. C., Khera, A. V., Lowther, C., Gauthier, L. D., Wang, H., et al. (2020) · Nature

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 1,037

Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies

Zhao, X., Collins, R. L., Lee, W.-P., Weber, A. M., Jun, Y., Zhu, Q., Weisburd, B., Huang, Y., Audano, P. A., Wang, H., et al. (2021) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 132

Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot

Reuter, M. S., Jobling, R., Chaturvedi, R. R., Manshaei, R., Costain, G., Heung, T., Curtis, M., Hosseini, S. M., Liston, E., Lowther, C., et al. (2019) · Genetics in Medicine

Congenital Heart Disease StudiesCongenital heart defects research

Cited by 85

Genomic Disorders in Psychiatry-What Does the Clinician Need to Know?

Lowther, C., Costain, G., Baribeau, D. A., & Bassett, A. S. (2017) · Current Psychiatry Reports

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 41

The landscape of gene loss and missense variation across the mammalian tree informs on gene essentiality

Liao, C., Ye, R., Ivankovic, F., Fu, J. M., Walters, R., Lowther, C., Valkanas, E., Churchhouse, C., Samocha, K. E., Lindblad-Toh, K., et al. (2026) · Nature Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 0