S

Researcher Profile

Sarah Turton

2

Publications

597

Citations

10

Co-Authors

2

Active Years

Publications

Open Access Journal Article Genetics in Medicine Feb 01, 2024

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

Lauren Jeffries · Emily K. Mis · Kirsty McWalter · Sandra Donkervoort +631 more

10.1016/j.gim.2023.101023 8 citations

Journal Article Nature Oct 14, 2020

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis · Kaitlin E. Samocha · Laurens Wiel · Zhancheng Zhang +277 more

10.1038/s41586-020-2832-5 589 citations

Publication Timeline

2024

1

2020

1

Frequent Co-Authors

Rachel Harrison