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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: schultz j. 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: schultz j. 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
Germline findings in cancer predisposing genes from a small cohort of chordoma patients.
Raygada M, John L, Liu A, Schultz J, Thomas BJ, Bernstein D, Miettinen M, Raffeld M, Xi L, Tyagi M, Aldape K, Glod J, Reilly KM, Widemann BC, Wedekind MF. Raygada M, et al. Among authors: schultz j. J Cancer Res Clin Oncol. 2024 May 3;150(5):227. doi: 10.1007/s00432-024-05706-5. J Cancer Res Clin Oncol. 2024. PMID: 38700789 Free PMC article.
2,131 results