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

Year Number of Results
1982 1
1983 1
1984 1
1985 4
1986 3
1987 5
1988 2
1989 8
1990 1
1991 3
1992 5
1993 10
1994 3
1995 9
1996 9
1997 4
1998 3
1999 9
2000 4
2001 5
2002 8
2003 9
2004 14
2005 11
2006 15
2007 10
2008 17
2009 16
2010 22
2011 22
2012 16
2013 16
2014 20
2015 16
2016 10
2017 8
2018 10
2019 6
2020 2
2021 11
2022 4
2023 1
2024 0

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323 results

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Page 1
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M. Thompson BA, et al. Among authors: den dunnen jt. Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362816 Free PMC article.
Yet another database?
den Dunnen JT. den Dunnen JT. Hum Mutat. 2018 Jun;39(6):755. doi: 10.1002/humu.23429. Hum Mutat. 2018. PMID: 29645308 No abstract available.
Mutation update: the spectra of nebulin variants and associated myopathies.
Lehtokari VL, Kiiski K, Sandaradura SA, Laporte J, Repo P, Frey JA, Donner K, Marttila M, Saunders C, Barth PG, den Dunnen JT, Beggs AH, Clarke NF, North KN, Laing NG, Romero NB, Winder TL, Pelin K, Wallgren-Pettersson C. Lehtokari VL, et al. Among authors: den dunnen jt. Hum Mutat. 2014 Dec;35(12):1418-26. doi: 10.1002/humu.22693. Hum Mutat. 2014. PMID: 25205138 Free PMC article.
LOVD v.2.0: the next generation in gene variant databases.
Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT. Fokkema IF, et al. Among authors: den dunnen jt. Hum Mutat. 2011 May;32(5):557-63. doi: 10.1002/humu.21438. Epub 2011 Feb 22. Hum Mutat. 2011. PMID: 21520333
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
Hoogeveen-Westerveld M, Wentink M, van den Heuvel D, Mozaffari M, Ekong R, Povey S, den Dunnen JT, Metcalfe K, Vallee S, Krueger S, Bergoffen J, Shashi V, Elmslie F, Kwiatkowski D, Sampson J, Vidales C, Dzarir J, Garcia-Planells J, Dies K, Maat-Kievit A, van den Ouweland A, Halley D, Nellist M. Hoogeveen-Westerveld M, et al. Among authors: den dunnen jt. Hum Mutat. 2011 Apr;32(4):424-35. doi: 10.1002/humu.21451. Epub 2011 Mar 8. Hum Mutat. 2011. PMID: 21309039
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).
Carrera P, Calzavara S, Magistroni R, den Dunnen JT, Rigo F, Stenirri S, Testa F, Messa P, Cerutti R, Scolari F, Izzi C, Edefonti A, Negrisolo S, Benetti E, Alibrandi MT, Manunta P, Boletta A, Ferrari M. Carrera P, et al. Among authors: den dunnen jt. Sci Rep. 2016 Aug 8;6:30850. doi: 10.1038/srep30850. Sci Rep. 2016. PMID: 27499327 Free PMC article.
Mutation nomenclature.
den Dunnen JT, Antonarakis SE. den Dunnen JT, et al. Curr Protoc Hum Genet. 2003 Aug;Chapter 7:Unit 7.13. doi: 10.1002/0471142905.hg0713s37. Curr Protoc Hum Genet. 2003. PMID: 18428344 Review.
The value of data.
Mons B, van Haagen H, Chichester C, Hoen PB, den Dunnen JT, van Ommen G, van Mulligen E, Singh B, Hooft R, Roos M, Hammond J, Kiesel B, Giardine B, Velterop J, Groth P, Schultes E. Mons B, et al. Among authors: den dunnen jt. Nat Genet. 2011 Mar 29;43(4):281-3. doi: 10.1038/ng0411-281. Nat Genet. 2011. PMID: 21445068
323 results