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

Year Number of Results
1994 1
1995 4
1996 1
1997 3
1998 1
1999 1
2000 2
2002 2
2003 2
2004 1
2006 1
2007 2
2008 1
2009 7
2010 6
2011 13
2012 10
2013 8
2014 6
2015 8
2016 7
2017 7
2018 3
2019 5
2020 9
2021 4
2023 1
2024 4

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108 results

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Page 1
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, V… See abstract for full author list ➔ Rice G, et al. Among authors: carr im. Am J Hum Genet. 2007 Oct;81(4):713-25. doi: 10.1086/521373. Epub 2007 Sep 4. Am J Hum Genet. 2007. PMID: 17846997 Free PMC article.
Drawing mitochondrial genomes with circularMT.
Goodman SJ, Carr IM. Goodman SJ, et al. Among authors: carr im. Bioinformatics. 2024 Jul 13;40(7):btae450. doi: 10.1093/bioinformatics/btae450. Online ahead of print. Bioinformatics. 2024. PMID: 39002115 Free PMC article.
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes.
Harris EL, Roy V, Montagne M, Rose AMS, Livesey H, Reijnders MRF, Hobson E, Sansbury FH, Willemsen MH, Pfundt R, Warren D, Long V, Carr IM, Brunner HG, Sheridan EG, Firth HV, Lavigne P, Poulter JA. Harris EL, et al. Among authors: carr im. Am J Hum Genet. 2024 Jan 4;111(1):119-132. doi: 10.1016/j.ajhg.2023.11.010. Epub 2023 Dec 22. Am J Hum Genet. 2024. PMID: 38141607 Free PMC article.
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.
Poulter JA, Al-Araimi M, Conte I, van Genderen MM, Sheridan E, Carr IM, Parry DA, Shires M, Carrella S, Bradbury J, Khan K, Lakeman P, Sergouniotis PI, Webster AR, Moore AT, Pal B, Mohamed MD, Venkataramana A, Ramprasad V, Shetty R, Saktivel M, Kumaramanickavel G, Tan A, Mackey DA, Hewitt AW, Banfi S, Ali M, Inglehearn CF, Toomes C. Poulter JA, et al. Among authors: carr im. Am J Hum Genet. 2013 Dec 5;93(6):1143-50. doi: 10.1016/j.ajhg.2013.11.002. Epub 2013 Nov 27. Am J Hum Genet. 2013. PMID: 24290379 Free PMC article. Review.
Targeting human plasmacytoid dendritic cells through BDCA2 prevents skin inflammation and fibrosis in a novel xenotransplant mouse model of scleroderma.
Ross RL, Corinaldesi C, Migneco G, Carr IM, Antanaviciute A, Wasson CW, Carriero A, Distler JHW, Holmes S, El-Sherbiny YM, McKimmie CS, Del Galdo F. Ross RL, et al. Among authors: carr im. Ann Rheum Dis. 2021 Jul;80(7):920-929. doi: 10.1136/annrheumdis-2020-218439. Epub 2021 Feb 4. Ann Rheum Dis. 2021. PMID: 33542104 Free PMC article.
Autozygosity mapping with exome sequence data.
Carr IM, Bhaskar S, O'Sullivan J, Aldahmesh MA, Shamseldin HE, Markham AF, Bonthron DT, Black G, Alkuraya FS. Carr IM, et al. Hum Mutat. 2013 Jan;34(1):50-6. doi: 10.1002/humu.22220. Epub 2012 Oct 22. Hum Mutat. 2013. PMID: 23090942
Cantú syndrome with coexisting familial pituitary adenoma.
Marques P, Spencer R, Morrison PJ, Carr IM, Dang MN, Bonthron DT, Hunter S, Korbonits M. Marques P, et al. Among authors: carr im. Endocrine. 2018 Mar;59(3):677-684. doi: 10.1007/s12020-017-1497-9. Epub 2018 Jan 11. Endocrine. 2018. PMID: 29327300 Free PMC article.
108 results