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NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Guo H, Zhang Q, Dai R, Yu B, Hoekzema K, Tan J, Tan S, Jia X, Chung WK, Hernan R, Alkuraya FS, Alsulaiman A, Al-Muhaizea MA, Lesca G, Pons L, Labalme A, Laux L, Bryant E, Brown NJ, Savva E, Ayres S, Eratne D, Peeters H, Bilan F, Letienne-Cejudo L, Gilbert-Dussardier B, Ruiz-Arana IL, Merlini JM, Boizot A, Bartoloni L, Santoni F, Karlowicz D, McDonald M, Wu H, Hu Z, Chen G, Ou J, Brasch-Andersen C, Fagerberg CR, Dreyer I, Chun-Hui Tsai A, Slegesky V, McGee RB, Daniels B, Sellars EA, Carpenter LA, Schaefer B, Sacoto MJG, Begtrup A, Schnur RE, Punj S, Wentzensen IM, Rhodes L, Pan Q, Bernier RA, Chen C, Eichler EE, Xia K. Guo H, et al. Among authors: eratne d. Am J Hum Genet. 2020 Nov 5;107(5):963-976. doi: 10.1016/j.ajhg.2020.10.002. Am J Hum Genet. 2020. PMID: 33157009 Free PMC article.
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. 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
A 10 year retrospective cohort study of inpatients with younger-onset dementia.
Loi SM, Eratne D, Goh AMY, Wibawa P, Farrand S, Kelso W, Evans A, Watson R, Walterfang M, Velakoulis D. Loi SM, et al. Among authors: eratne d. Int J Geriatr Psychiatry. 2021 Feb;36(2):294-301. doi: 10.1002/gps.5424. Epub 2020 Sep 16. Int J Geriatr Psychiatry. 2021. PMID: 32892399
Mortality in dementia is predicted by older age of onset and cognitive presentation.
Loi SM, Tsoukra P, Chen Z, Wibawa P, Mijuskovic T, Eratne D, Di Biase MA, Evans A, Farrand S, Kelso W, Goh AM, Walterfang M, Velakoulis D. Loi SM, et al. Among authors: eratne d. Aust N Z J Psychiatry. 2022 Jul;56(7):852-861. doi: 10.1177/00048674211041003. Epub 2021 Aug 21. Aust N Z J Psychiatry. 2022. PMID: 34420425
47 results