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Year Number of Results
2017 4
2018 4
2019 4
2020 3
2021 3
2022 7
2023 1
2024 0

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23 results

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Page 1
Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing.
Taylor AS, Barros D, Gobet N, Schuepbach T, McAllister B, Aeschbach L, Randall EL, Trofimenko E, Heuchan ER, Barszcz P, Ciosi M, Morgan J, Hafford-Tear NJ, Davidson AE, Massey TH, Monckton DG, Jones L, Network RIOTEHD, Xenarios I, Dion V. Taylor AS, et al. NAR Genom Bioinform. 2022 Dec 5;4(4):lqac089. doi: 10.1093/nargab/lqac089. eCollection 2022 Dec. NAR Genom Bioinform. 2022. PMID: 36478959 Free PMC article.
Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset.
McAllister B, Donaldson J, Binda CS, Powell S, Chughtai U, Edwards G, Stone J, Lobanov S, Elliston L, Schuhmacher LN, Rees E, Menzies G, Ciosi M, Maxwell A, Chao MJ, Hong EP, Lucente D, Wheeler V, Lee JM, MacDonald ME, Long JD, Aylward EH, Landwehrmeyer GB, Rosser AE; REGISTRY Investigators of the European Huntington’s disease network; Paulsen JS; PREDICT-HD Investigators of the Huntington Study Group; Williams NM, Gusella JF, Monckton DG, Allen ND, Holmans P, Jones L, Massey TH. McAllister B, et al. Nat Neurosci. 2022 Apr;25(4):446-457. doi: 10.1038/s41593-022-01033-5. Epub 2022 Apr 4. Nat Neurosci. 2022. PMID: 35379994 Free PMC article.
Genetic modifiers of Huntington disease differentially influence motor and cognitive domains.
Lee JM, Huang Y, Orth M, Gillis T, Siciliano J, Hong E, Mysore JS, Lucente D, Wheeler VC, Seong IS, McLean ZL, Mills JA, McAllister B, Lobanov SV, Massey TH, Ciosi M, Landwehrmeyer GB, Paulsen JS, Dorsey ER, Shoulson I, Sampaio C, Monckton DG, Kwak S, Holmans P, Jones L, MacDonald ME, Long JD, Gusella JF. Lee JM, et al. Am J Hum Genet. 2022 May 5;109(5):885-899. doi: 10.1016/j.ajhg.2022.03.004. Epub 2022 Mar 23. Am J Hum Genet. 2022. PMID: 35325614 Free PMC article.
Neurological consultation with an autistic patient.
Cooper M, Gale K, Langley K, Broughton T, Massey TH, Hall NJ, Jones CRG. Cooper M, et al. Pract Neurol. 2022 Apr;22(2):120-125. doi: 10.1136/practneurol-2020-002856. Epub 2021 Oct 8. Pract Neurol. 2022. PMID: 34625468 Review.
Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease.
McAllister B, Gusella JF, Landwehrmeyer GB, Lee JM, MacDonald ME, Orth M, Rosser AE, Williams NM, Holmans P, Jones L, Massey TH; REGISTRY Investigators of the European Huntington's Disease Network. McAllister B, et al. Neurology. 2021 May 11;96(19):e2395-e2406. doi: 10.1212/WNL.0000000000011893. Epub 2021 Mar 25. Neurology. 2021. PMID: 33766994 Free PMC article. Clinical Trial.
Movement Disorder Phenotypes in Children With 22q11.2 Deletion Syndrome.
Cunningham AC, Fung W, Massey TH, Hall J, Owen MJ, van den Bree MBM, Peall KJ. Cunningham AC, et al. Mov Disord. 2020 Jul;35(7):1272-1274. doi: 10.1002/mds.28078. Epub 2020 May 7. Mov Disord. 2020. PMID: 32379361 Free PMC article. No abstract available.
23 results