Associated Papers
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.
Kerr SM et al.
American Journal of Human Genetics, 2025
Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent.
Lacaze P et al.
Npj Genomic Medicine, 2021
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies.
Savarese M et al.
Journal of Neuromuscular Diseases, 2020
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.
Evilä A et al.
Molecular Neurobiology, 2017
Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titin.
Weston TGR et al.
Wires Mechanisms of Disease, 0
Select a paper to view details