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Year Number of Results
2016 2
2017 6
2018 4
2019 3
2020 4
2021 2
2022 5
2023 3
2024 1

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26 results

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Page 1
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.
Pottinger TD, Motelow JE, Povysil G, Moreno CAM, Ren Z, Phatnani H; New York Genome Center ALS Sequencing Consortium; Aitman TJ, Santoyo-Lopez J; Scottish Genomes Partnership; Mitsumoto H; ALS COSMOS Study Group, PLS COSMOS Study Group, GTAC Investigators; Goldstein DB, Harms MB. Pottinger TD, et al. Res Sq [Preprint]. 2023 Dec 21:rs.3.rs-3721598. doi: 10.21203/rs.3.rs-3721598/v1. Res Sq. 2023. PMID: 38196621 Free PMC article. Preprint.
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome.
Vandersteen AM, Weerakkody RA, Parry DA, Kanonidou C, Toddie-Moore DJ, Vandrovcova J, Darlay R, Santoyo-Lopez J, Meynert A; NIHR BioResource; Kazkaz H, Grahame R, Cummings C, Bartlett M, Ghali N, Brady AF, Pope FM, van Dijk FS, Cordell HJ, Aitman TJ. Vandersteen AM, et al. J Med Genet. 2024 Feb 21;61(3):232-238. doi: 10.1136/jmg-2023-109329. J Med Genet. 2024. PMID: 37813462 Free article.
Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland.
Leighton DJ, Ansari M, Newton J, Parry D, Cleary E, Colville S, Stephenson L, Larraz J, Johnson M, Beswick E, Wong M, Gregory J, Carod Artal J, Davenport R, Duncan C, Morrison I, Smith C, Swingler R, Deary IJ, Porteous M, Aitman TJ, Chandran S, Gorrie GH, Pal S; Lothian Birth Cohorts Group; and the CARE-MND Consortium. Leighton DJ, et al. J Neurol. 2023 Mar;270(3):1702-1712. doi: 10.1007/s00415-022-11505-0. Epub 2022 Dec 14. J Neurol. 2023. PMID: 36515702 Free PMC article.
Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing.
Hocking LJ, Andrews C, Armstrong C, Ansari M, Baty D, Berg J, Bradley T, Clark C, Diamond A, Doherty J, Lampe A, McGowan R, Moore DJ, O'Sullivan D, Purvis A, Santoyo-Lopez J, Westwood P, Abbott M, Williams N; Scottish Genomes Partnership; Aitman TJ, Miedzybrodzka Z. Hocking LJ, et al. Eur J Hum Genet. 2023 Feb;31(2):231-238. doi: 10.1038/s41431-022-01226-3. Epub 2022 Dec 6. Eur J Hum Genet. 2023. PMID: 36474026 Free PMC article.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
de Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, Kini U, Lasa-Aranzasti A, Lesca G, Lynch SA, Mathijssen IMJ, McGowan R, Monaghan KG, Odent S, Pfundt R, Putoux A, van Reeuwijk J, Santen GWE, Sasaki E, Sorlin A, van der Spek PJ, Stegmann APA, Swagemakers SMA, Valenzuela I, Viora-Dupont E, Vitobello A, Ware SM, Wéber M, Gilissen C, Low KJ, Fisher SE, Vissers LELM, Wong MMK, Kleefstra T. de Boer E, et al. Genet Med. 2022 Oct;24(10):2051-2064. doi: 10.1016/j.gim.2022.06.007. Epub 2022 Jul 14. Genet Med. 2022. PMID: 35833929 Free article.
Ancient DNA at the edge of the world: Continental immigration and the persistence of Neolithic male lineages in Bronze Age Orkney.
Dulias K, Foody MGB, Justeau P, Silva M, Martiniano R, Oteo-García G, Fichera A, Rodrigues S, Gandini F, Meynert A, Donnelly K, Aitman TJ; Scottish Genomes Partnership; Chamberlain A, Lelong O, Kozikowski G, Powlesland D, Waddington C, Mattiangeli V, Bradley DG, Bryk J, Soares P, Wilson JF, Wilson G, Moore H, Pala M, Edwards CJ, Richards MB. Dulias K, et al. Proc Natl Acad Sci U S A. 2022 Feb 22;119(8):e2108001119. doi: 10.1073/pnas.2108001119. Proc Natl Acad Sci U S A. 2022. PMID: 35131896 Free PMC article.
Structural Variants at the BRCA1/2 Loci are a Common Source of Homologous Repair Deficiency in High-grade Serous Ovarian Carcinoma.
Ewing A, Meynert A, Churchman M, Grimes GR, Hollis RL, Herrington CS, Rye T, Bartos C, Croy I, Ferguson M, Lennie M, McGoldrick T, McPhail N, Siddiqui N, Dowson S, Glasspool R, Mackean M, Nussey F, McDade B, Ennis D, McMahon L, Matakidou A, Dougherty B, March R, Barrett JC, McNeish IA; Scottish Genomes Partnership; Biankin AV, Roxburgh P, Gourley C, Semple CA. Ewing A, et al. Clin Cancer Res. 2021 Jun 1;27(11):3201-3214. doi: 10.1158/1078-0432.CCR-20-4068. Epub 2021 Mar 19. Clin Cancer Res. 2021. PMID: 33741650 Free PMC article.
PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.
Parry DA, Tamayo-Orrego L, Carroll P, Marsh JA, Greene P, Murina O, Uggenti C, Leitch A; Scottish Genomes Partnership; Káposzta R, Merő G, Nagy A, Orlik B, Kovács-Pászthy B, Quigley AJ, Riszter M, Rankin J, Reijns MAM, Szakszon K, Jackson AP; Members of the Scottish Genome Partnership include. Parry DA, et al. Genes Dev. 2020 Nov 1;34(21-22):1520-1533. doi: 10.1101/gad.340190.120. Epub 2020 Oct 15. Genes Dev. 2020. PMID: 33060134 Free PMC article.
Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project; Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Turro E, et al. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362 Free PMC article.
26 results