Khan AM, Lin P, Kamdar N, Mahmoudi E, Clarke P. Continuity of care in adults aging with cerebral palsy and spina bifida: the importance of community healthcare and socioeconomic context. Disabilities. 2023 Jun 12;3(2):295-306. doi: 10.3390/disabilities3020019
Petrillo J, Paret K, Sawant R, Koenig A, Wolowacz S, Ronquest N, Rickards H. Estimation of health state utilities in Huntington's disease: a targeted review. Poster presented at the HSG 2022 Annual Meeting; November 2022. Tampa, FL. [abstract] J Huntingtons Dis. 2022 Oct 31; 11(s1):S31. Previously presented at the European Huntington's Disease Network (EHDN) 2022 Plenary Meeting. doi: 10.3233/JHD-229005
Lin HM, Davis KL, Kaye JA, Luptakova K, Nagar SP, Mohty M. Real-world treatment patterns, outcomes, and healthcare resource utilization in relapsed or refractory multiple myeloma: evidence from a medical record review in France. Adv Hematol. 2019 Jan 29;2019(4625787). doi: 10.1155/2019/4625787
Davis KL, Cote I, Kaye JA, Mendelson E, Gao H, Perez Ronco J. Real-world assessment of clinical outcomes in patients with lower-risk myelofibrosis receiving treatment with ruxolitinib. Adv Hematol. 2015 Oct;2015(2015):848473. doi: 10.1155/2015/848473
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.