Raventos B, Abellan A, Pistillo A, Reyes C, Burn E, Duarte-Salles T. Impact of the COVID-19 pandemic on eating disorders diagnoses among adolescents and young adults in Catalonia: a population-based cohort study. Int J Eat Disord. 2023 Jan;56(1):225-34. doi: 10.1002/eat.23848
Wright S, Dalal G, Vass C, Georgsson S, Payne K. How do women want to receive information about non-invasive prenatal testing? Evidence from a discrete choice experiment. Prenat Diagn. 2022 Oct;42(11):1377-89. doi: 10.1002/pd.6243
Buchanan J, Hill M, Vass CM, Hammond J, Riedijk S, Klapwijk JE, Harding E, Lou S, Vogel I, Hui L, Ingvoldstad-Malmgren C, Soller MJ, Ormond KE, Choolani M, Zheng Q, Chitty LS, Lewis C. Factors that impact on women's decision-making around prenatal genomic tests: an international discrete choice survey. Prenat Diagn. 2022 Jun;42(7):934-46. doi: 10.1002/pd.6159
Copley-Merriman C, Yang X, Juniper M, Amin S, Yoo HK, Sen SS. Natural history and disease burden of neurofibromatosis type 1 with plexiform neurofibromas: a systematic review. Adolesc Health Med Ther. 2021 May 19;12:55-66. doi: 10.2147/AHMT.S303456
Ryan M, Diack J, Watson V, Smith N. Rapid prenatal diagnostic testing for down syndrome only or longer wait for full karyotype: the views of pregnant women. Prenat Diagn. 2005 Dec;25(13):1206-11. doi: 10.1002/pd.1309
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.