R
Rebecca C.J. Twells
Researcher at University of Cambridge
Publications - 27
Citations - 3449
Rebecca C.J. Twells is an academic researcher from University of Cambridge. The author has contributed to research in topics: Single-nucleotide polymorphism & Haplotype. The author has an hindex of 21, co-authored 27 publications receiving 3379 citations. Previous affiliations of Rebecca C.J. Twells include Wellcome Trust Centre for Human Genetics.
Papers
More filters
Journal ArticleDOI
Haplotype tagging for the identification of common disease genes
Gillian C.L. Johnson,Laura Esposito,Bryan J. Barratt,Annabel N. Smith,Joanne M. Heward,Gianfranco Di Genova,Hironori Ueda,Heather J. Cordell,Iain A. Eaves,Frank Dudbridge,Rebecca C.J. Twells,Felicity Payne,Wil Hughes,Sarah Nutland,Helen Stevens,Phillipa Carr,Eva Tuomilehto-Wolf,Jaakko Tuomilehto,Stephen C. L. Gough,David Clayton,John A. Todd +20 more
TL;DR: This work shows how knowledge of the common haplotypes and the SNPs that tag them can be used to explain the often complex patterns of LD between adjacent markers and provide key fine-mapping data within regions of strong LD.
Journal ArticleDOI
Replication of an Association Between the Lymphoid Tyrosine Phosphatase Locus (LYP/PTPN22) With Type 1 Diabetes, and Evidence for Its Role as a General Autoimmunity Locus
Deborah J. Smyth,Jason D. Cooper,J. E. Collins,Joanne M. Heward,Jayne A. Franklyn,Joanna M. M. Howson,Adrian Vella,Sarah Nutland,Helen E. Rance,Lisa M. Maier,Bryan J. Barratt,Cristian Guja,Constantin Ionescu-Tirgoviste,David A. Savage,David B. Dunger,Barry Widmer,David P. Strachan,Susan M. Ring,Neil Walker,David Clayton,Rebecca C.J. Twells,Stephen C. L. Gough,John A. Todd +22 more
TL;DR: A more general association of the PTPN22 locus with autoimmune disease is indicated, as reported for an association of Trp(620) with another autoimmune disorder, Graves' disease, in 1,734 case and control subjects.
Journal ArticleDOI
Localization of a Type 1 Diabetes Locus in the IL2RA/CD25 Region by Use of Tag Single-Nucleotide Polymorphisms
Adrian Vella,Jason D. Cooper,Christopher E. Lowe,Neil Walker,Sarah Nutland,Barry Widmer,Richard Jones,Susan M. Ring,Wendy L. McArdle,Marcus Pembrey,Marcus Pembrey,David P. Strachan,David B. Dunger,Rebecca C.J. Twells,David Clayton,John A. Todd +15 more
TL;DR: The results illustrate the utility of tag SNPs in a chromosome-regional test of disease association and justify future fine mapping of the causal variant in the region.
Journal ArticleDOI
Cloning of a novel member of the low-density lipoprotein receptor family.
Patricia J. Hey,Rebecca C.J. Twells,Michael S. Phillips,Yusuke Nakagawa,Sheryl D. Brown,Y Kawaguchi,Roger D. Cox,Guochun Xie,Valarie Dugan,Holly A. Hammond,Michael L. Metzker,John A. Todd,J. Fred Hess +12 more
TL;DR: Low-density lipoprotein receptor related protein 5 (LRP5) was identified by DNA sequence analysis within the insulin-dependent diabetes mellitus (IDDM) locus IDDM4 on chromosome 11q13 as discussed by the authors.
Journal ArticleDOI
Isolation and characterization of LRP6, a novel member of the low density lipoprotein receptor gene family.
S D Brown,Rebecca C.J. Twells,Patricia J. Hey,Roger D. Cox,Elaine R. Levy,A. R. Soderman,Michael L. Metzker,C. T. Caskey,John A. Todd,J F Hess +9 more
TL;DR: The cytoplasmic domain of LRP6 is not similar to other members of the LDLR family, while comparison with LRP5 reveals proline-rich motifs that may mediate protein-protein interactions, likely to comprise a new class of the HDLR family.