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

Year Number of Results
1954 1
1961 1
1962 1
1965 1
1966 2
1967 2
1968 1
1970 3
1971 3
1972 3
1973 4
1974 3
1975 3
1976 4
1977 4
1978 6
1979 3
1980 3
1981 1
1982 1
1983 1
1984 1
1985 1
1986 1
1987 1
1988 1
1989 3
1990 2
1991 5
1992 6
1993 2
1994 3
1995 1
1996 3
1997 6
1998 2
1999 1
2000 3
2001 2
2002 4
2003 2
2004 5
2005 7
2006 8
2007 3
2008 7
2010 7
2011 3
2012 6
2013 6
2014 5
2015 13
2016 9
2017 9
2018 4
2019 3
2020 3
2022 0
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Article attribute
Article type
Publication date

Search Results

186 results
Results by year
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Page 1
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP. Amendola LM, et al. Among authors: scott cr. Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30. Genome Res. 2015. PMID: 25637381 Free PMC article.
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R. Germain DP, et al. Among authors: scott cr. N Engl J Med. 2016 Aug 11;375(6):545-55. doi: 10.1056/NEJMoa1510198. N Engl J Med. 2016. PMID: 27509102 Free article. Clinical Trial.
Actionable, pathogenic incidental findings in 1,000 participants' exomes.
Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, Bennett RL, Jones KL, Tokita MJ, Bennett JT, Kim JH, Rosenthal EA, Kim DS; National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project, Tabor HK, Bamshad MJ, Motulsky AG, Scott CR, Pritchard CC, Walsh T, Burke W, Raskind WH, Byers P, Hisama FM, Nickerson DA, Jarvik GP. Dorschner MO, et al. Among authors: scott cr. Am J Hum Genet. 2013 Oct 3;93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. Epub 2013 Sep 19. Am J Hum Genet. 2013. PMID: 24055113 Free PMC article.
Iron should be restricted in acute infection.
Scott CR, Holbein BE, Lehmann CD. Scott CR, et al. Front Biosci (Landmark Ed). 2020 Jan 1;25:673-682. doi: 10.2741/4827. Front Biosci (Landmark Ed). 2020. PMID: 31585910 Free article. Review.
The genetic tyrosinemias.
Scott CR. Scott CR. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):121-6. doi: 10.1002/ajmg.c.30092. Am J Med Genet C Semin Med Genet. 2006. PMID: 16602095 Review.
Tyrosinemia Type I.
Sniderman King L, Trahms C, Scott CR. Sniderman King L, et al. Among authors: scott cr. 2006 Jul 24 [updated 2017 May 25]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2006 Jul 24 [updated 2017 May 25]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301688 Free Books & Documents. Review.
Long-term treatment outcomes in Gaucher disease.
Charrow J, Scott CR. Charrow J, et al. Among authors: scott cr. Am J Hematol. 2015 Jul;90 Suppl 1:S19-24. doi: 10.1002/ajh.24056. Am J Hematol. 2015. PMID: 26096742 Free article. Review.
186 results