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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 3
2003 5
2004 3
2005 7
2006 13
2007 9
2008 8
2009 5
2010 12
2011 11
2012 19
2013 28
2014 29
2015 30
2016 14
2017 13
2018 10
2019 17
2020 11
2021 8
2022 12
2023 9
2024 3

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244 results

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Page 1
Prospective study design and data analysis in UK Biobank.
Allen NE, Lacey B, Lawlor DA, Pell JP, Gallacher J, Smeeth L, Elliott P, Matthews PM, Lyons RA, Whetton AD, Lucassen A, Hurles ME, Chapman M, Roddam AW, Fitzpatrick NK, Hansell AL, Hardy R, Marioni RE, O'Donnell VB, Williams J, Lindgren CM, Effingham M, Sellors J, Danesh J, Collins R. Allen NE, et al. Among authors: hurles me. Sci Transl Med. 2024 Jan 10;16(729):eadf4428. doi: 10.1126/scitranslmed.adf4428. Epub 2024 Jan 10. Sci Transl Med. 2024. PMID: 38198570 Review.
Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation.
Radford EJ, Tan HK, Andersson MHL, Stephenson JD, Gardner EJ, Ironfield H, Waters AJ, Gitterman D, Lindsay S, Abascal F, Martincorena I, Kolesnik-Taylor A, Ng-Cordell E, Firth HV, Baker K, Perry JRB, Adams DJ, Gerety SS, Hurles ME. Radford EJ, et al. Among authors: hurles me. Nat Commun. 2023 Dec 6;14(1):7702. doi: 10.1038/s41467-023-43041-4. Nat Commun. 2023. PMID: 38057330 Free PMC article.
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.
Levitin MO, Rawlins LE, Sanchez-Andrade G, Arshad OA, Collins SC, Sawiak SJ, Iffland PH 2nd, Andersson MHL, Bupp C, Cambridge EL, Coomber EL, Ellis I, Herkert JC, Ironfield H, Jory L, Kretz PF, Kant SG, Neaverson A, Nibbeling E, Rowley C, Relton E, Sanderson M, Scott EM, Stewart H, Shuen AY, Schreiber J, Tuck L, Tonks J, Terkelsen T, van Ravenswaaij-Arts C, Vasudevan P, Wenger O, Wright M, Day A, Hunter A, Patel M, Lelliott CJ, Crino PB, Yalcin B, Crosby AH, Baple EL, Logan DW, Hurles ME, Gerety SS. Levitin MO, et al. Among authors: hurles me. Brain. 2023 Nov 2;146(11):4766-4783. doi: 10.1093/brain/awad231. Brain. 2023. PMID: 37437211 Free PMC article.
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.
Duckett K, Williamson A, Kincaid JWR, Rainbow K, Corbin LJ, Martin HC, Eberhardt RY, Huang QQ, Hurles ME, He W, Brauner R, Delaney A, Dunkel L, Grinspon RP, Hall JE, Hirschhorn JN, Howard SR, Latronico AC, Jorge AAL, McElreavey K, Mericq V, Merino PM, Palmert MR, Plummer L, Rey RA, Rezende RC, Seminara SB, Salnikov K, Banerjee I, Lam BYH, Perry JRB, Timpson NJ, Clayton P, Chan YM, Ong KK, O'Rahilly S. Duckett K, et al. Among authors: hurles me. J Clin Endocrinol Metab. 2023 Nov 17;108(12):e1580-e1587. doi: 10.1210/clinem/dgad373. J Clin Endocrinol Metab. 2023. PMID: 37339320 Free PMC article.
Rare genetic variants impact muscle strength.
Huang Y, Bodnar D, Chen CY, Sanchez-Andrade G, Sanderson M; Biogen Biobank Team; Shi J, Meilleur KG, Hurles ME, Gerety SS, Tsai EA, Runz H. Huang Y, et al. Among authors: hurles me. Nat Commun. 2023 Jun 10;14(1):3449. doi: 10.1038/s41467-023-39247-1. Nat Commun. 2023. PMID: 37301943 Free PMC article.
The impact of rare protein coding genetic variation on adult cognitive function.
Chen CY, Tian R, Ge T, Lam M, Sanchez-Andrade G, Singh T, Urpa L, Liu JZ, Sanderson M, Rowley C, Ironfield H, Fang T; Biogen Biobank Team; SUPER-Finland study; Northern Finland Intellectual Disability study; Daly M, Palotie A, Tsai EA, Huang H, Hurles ME, Gerety SS, Lencz T, Runz H. Chen CY, et al. Among authors: hurles me. Nat Genet. 2023 Jun;55(6):927-938. doi: 10.1038/s41588-023-01398-8. Epub 2023 May 25. Nat Genet. 2023. PMID: 37231097 Free PMC article.
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV; DDD Study. Wright CF, et al. Among authors: hurles me. N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12. N Engl J Med. 2023. PMID: 37043637 Free PMC article.
244 results