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Re-evaluation of missense variant classifications in NF2.
Hum Mutat. 2022 May;43(5):643-654. doi: 10.1002/humu.24370. Epub 2022 Apr 2.
Hum Mutat. 2022.
PMID: 35332608
Free PMC article.
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Loong L, Cubuk C, Choi S, Allen S, Torr B, Garrett A, Loveday C, Durkie M, Callaway A, Burghel GJ, Drummond J, Robinson R, Berry IR, Wallace A, Eccles DM, Tischkowitz M, Ellard S, Ware JS, Hanson H, Turnbull C; CanVIG-UK.
Loong L, et al.
Genet Med. 2022 Mar;24(3):552-563. doi: 10.1016/j.gim.2021.11.011. Epub 2021 Nov 18.
Genet Med. 2022.
PMID: 34906453
Free PMC article.
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Telomere distribution and dynamics in somatic and meiotic nuclei of Arabidopsis thaliana.
Roberts NY, Osman K, Armstrong SJ.
Roberts NY, et al.
Cytogenet Genome Res. 2009;124(3-4):193-201. doi: 10.1159/000218125. Epub 2009 Jun 25.
Cytogenet Genome Res. 2009.
PMID: 19556773
Review.
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The management of symptomatic hyperostotic bilateral spheno-orbital meningiomas: patient series.
Harris L, Bal JS, Drosos E, Matloob S, Roberts NY, Hammerbeck-Ward C, Pathmanaban O, Evans G, King AT, Rutherford SA, Pollock J, Shoakazemi A.
Harris L, et al. Among authors: roberts ny.
J Neurosurg Case Lessons. 2023 Sep 25;6(13):CASE23179. doi: 10.3171/CASE23179. Print 2023 Sep 25.
J Neurosurg Case Lessons. 2023.
PMID: 37773763
Free PMC article.
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Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.
Baker K, Gordon SL, Grozeva D, van Kogelenberg M, Roberts NY, Pike M, Blair E, Hurles ME, Chong WK, Baldeweg T, Kurian MA, Boyd SG, Cousin MA, Raymond FL.
Baker K, et al. Among authors: roberts ny.
J Clin Invest. 2015 Apr;125(4):1670-8. doi: 10.1172/JCI79765. Epub 2015 Feb 23.
J Clin Invest. 2015.
PMID: 25705886
Free PMC article.
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Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.
Logan CV, Szabadkai G, Sharpe JA, Parry DA, Torelli S, Childs AM, Kriek M, Phadke R, Johnson CA, Roberts NY, Bonthron DT, Pysden KA, Whyte T, Munteanu I, Foley AR, Wheway G, Szymanska K, Natarajan S, Abdelhamed ZA, Morgan JE, Roper H, Santen GW, Niks EH, van der Pol WL, Lindhout D, Raffaello A, De Stefani D, den Dunnen JT, Sun Y, Ginjaar I, Sewry CA, Hurles M, Rizzuto R; UK10K Consortium; Duchen MR, Muntoni F, Sheridan E.
Logan CV, et al. Among authors: roberts ny.
Nat Genet. 2014 Feb;46(2):188-93. doi: 10.1038/ng.2851. Epub 2013 Dec 15.
Nat Genet. 2014.
PMID: 24336167
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