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The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective.
Eratne D, Schneider A, Lynch E, Martyn M, Velakoulis D, Fahey M, Kwan P, Leventer R, Rafehi H, Chong B, Stark Z, Lunke S, Phelan DG, O'Keefe M, Siemering K, West K, Sexton A, Jarmolowicz A, Taylor JA, Schultz J, Purvis R, Uebergang E, Chalinor H, Creighton B, Gelfand N, Saks T, Prawer Y, Smagarinsky Y, Pan T, Goranitis I, Ademi Z, Gaff C, Huq A, Walsh M, James PA, Krzesinski EI, Wallis M, Stutterd CA, Bahlo M, Delatycki MB, Berkovic SF. Eratne D, et al. Among authors: purvis r. J Neurol Sci. 2021 Jan 15;420:117260. doi: 10.1016/j.jns.2020.117260. Epub 2020 Dec 3. J Neurol Sci. 2021. PMID: 33310205
Clinical impact of whole-genome sequencing in patients with early-onset dementia.
Huq AJ, Thompson B, Bennett MF, Bournazos A, Bommireddipalli S, Gorelik A, Schultz J, Sexton A, Purvis R, West K, Cotter M, Valente G, Hughes A, Riaz M, Walsh M, Farrand S, Loi SM, Kilpatrick T, Brodtmann A, Darby D, Eratne D, Walterfang M, Delatycki MB, Storey E, Fahey M, Cooper S, Lacaze P, Masters CL, Velakoulis D, Bahlo M, James PA, Winship I. Huq AJ, et al. Among authors: purvis r. J Neurol Neurosurg Psychiatry. 2022 Jul 29:jnnp-2021-328146. doi: 10.1136/jnnp-2021-328146. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35906014
Personalising genetic counselling (POETIC) trial: Protocol for a hybrid type II effectiveness-implementation randomised clinical trial of a patient screening tool to improve patient empowerment after cancer genetic counselling.
Forrest LE, Tutty E, De Silva AP, Petelin L, Ruscigno A, Purvis R, Monohan K, Kentwell M, Sexton A, Stafford L, James PA. Forrest LE, et al. Among authors: purvis r. Trials. 2023 Nov 8;24(1):712. doi: 10.1186/s13063-023-07723-0. Trials. 2023. PMID: 37941026 Free PMC article.
Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer.
Chan JM, Clendenning M, Joseland S, Georgeson P, Mahmood K, Walker R, Como J, Joo JE, Preston S, Hutchinson RA, Pope BJ, Metz A, Beard C, Purvis R, Arnold J, Vijay V, Konycheva G, Atkinson N, Parry S, Jenkins MA, Macrae FA, Rosty C, Winship IM, Buchanan DD. Chan JM, et al. Among authors: purvis r. Fam Cancer. 2022 Oct;21(4):399-413. doi: 10.1007/s10689-021-00283-9. Epub 2021 Nov 24. Fam Cancer. 2022. PMID: 34817745
135 results