McErlane F, Boeri M, Bussberg C, Cappelleri JC, Germino R, Stockert L, Vass C, Huber AM. Adolescent and caregiver preferences for juvenile idiopathic arthritis treatment: a discrete-choice experiment. Pediatr Rheumatol Online J. 2023 Oct 21;21(1):129. doi: 10.1186/s12969-023-00906-8
Lansdall CJ, McDougall F, Butler LM, Delmar P, Pross N, Qin S, McLeod L, Zhou X, Kerchner GA, Doody RS. Establishing clinically meaningful change on outcome assessments frequently used in trials of mild cognitive impairment due to Alzheimer's disease. J Prev Alzheimers Dis. 2023;10(1):9-18. doi: 10.14283/jpad.2022.102
Romano (DeMuro) C, Novak G, Choi J, Qin S, Henley D, Donohue M, Romano G, Raman R, Amariglio R, Aisen P, Sperling R. Assessing clinically meaningful functional outcomes in preclinical alzheimer's disease. Poster presented at the 15th Conference Clinical Trials Alzheimer's Disease 2022; November 29, 2022. San Francisco, CA. [abstract] J Prev Alzheimers Dis. 2022 Dec 3; 9(Supplement 1):S186-7.
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
Abeysinghe SS, Stenson PD PD, Krawczak M, Cooper DN DN. Gross Rearrangement Breakpoint Database (GRABDTM). Hum Mutat. 2004;23(3):219-21.
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.
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.