Ball EV, Stenson PD, Abeysinghe SS, Krawczak M, Cooper DN, Chuzhanova NA. Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity. Hum Mutat. 2005 Sep;26(3):205-13. doi: 10.1002/humu.20212
Tsianos G, Eleftheriou KI, Hawe E, Woolrich L, Watt M, Watt I, Peacock A, Montgomery H, Grant S. Performance at altitude and angiotensin I-converting enzyme genotype. Eur J Appl Physiol. 2005;93(5-6):630-3.
Abeysinghe SS, Stenson PD PD, Krawczak M, Cooper DN DN. Gross Rearrangement Breakpoint Database (GRABDTM). Hum Mutat. 2004;23(3):219-21.
James L, Onambele G, Woledge R, Skelton D, Woods D, Eleftheriou K, Hawe E, Humphries SE, Haddad F, Montgomery H. IL-6-174G/C genotype is associated with the bone mineral density response to oestrogen replacement therapy in post-menopausal women. Eur J Appl Physiol. 2004;92(1-2):227-30.
Woods D, Sanders J, Jones A, Hawe E, Gohlke P, Humphries SE, Payne J, Montgomery H. The serum angiotensin-converting enzyme and angiotensin II response to altered posture and acute exercise, and the influence of ACE genotype. Eur J Appl Physiol. 2004;91(2-3):342-8.
Abeysinghe SS, Chuzhanova N, Krawczak M, Ball EV, Cooper DN. Translocation and gross deletion breakpoints in human inherited disease and cancer I: nucleotide composition and recombination-associated motifs. Hum Mutat. 2003 Sep;22(3):229-44.
Chuzhanova N, Abeysinghe SS, Krawczak M, Cooper DN. Translocation and gross deletion breakpoints in human inherited disease and cancer II: potential involvement of repetitive sequence elements in secondary structure formation between DNA ends. Hum Mutat. 2003 Sep;22(3):245-51.
Dhamrait SS, James L, Brull DJ, Myerson S, Hawe E, Pennell DJ, World M, Humphries SE, Haddad F, Montgomery HE. Cortical bone resorption during exercise is interleukin-6 genotype-dependent. Eur J Appl Physiol. 2003 Mar;89(1):21-5.
Stenson P, Ball EV, Mort M, Phillips A, Shiel J, Thomas N, Abeysinghe SS. Human Gene Mutation Database (HGMD). Hum Mutat. 2003;(21):577-81.
Krawczak M, Ball EV, Fenton I, Stenson PD, Abeysinghe SS, Thomas N, Cooper DN. Human gene mutation database-a biomedical information and research resource. Hum Mutat. 2000;15(1):45-51.