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Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01390-9
By:
- Josephs, Katherine S.;
- Seaby, Eleanor G.;
- May, Philippa;
- Theotokis, Pantazis;
- Yu, Jing;
- Andreou, Avgi;
- Sinclair, Hannah;
- Morris-Rosendahl, Deborah;
- Thomas, Ellen R. A.;
- Ennis, Sarah;
- Roberts, Angharad M.;
- Ware, James S.
Publication type:
Article
Resequencing the susceptibility gene, ITGAM, identifies two functionally deleterious rare variants in systemic lupus erythematosus cases.
Published in:
Arthritis Research & Therapy, 2014, v. 16, n. 3, p. 1, doi. 10.1186/ar4566
By:
- Roberts, Amy L.;
- Thomas, Ellen R. A.;
- Bhosle, Shriram;
- Game, Laurence;
- Obraztsova, Olga;
- Aitman, Timothy J.;
- Vyse, Timothy J.;
- Rhodes, Benjamin
Publication type:
Article
Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study.
Published in:
BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-70
By:
- Norsworthy, Penny J.;
- Vandrovcova, Jana;
- Thomas, Ellen R. A.;
- Campbell, Archie;
- Kerr, Shona M.;
- Biggs, Jennifer;
- Game, Laurence;
- Soutar, Anne K.;
- Smith, Blair H.;
- Dominiczak, Anna F.;
- Porteous, David J.;
- Morris, Andrew D.;
- Scotland, Generation;
- Aitman, Timothy J.
Publication type:
Article