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

Year Number of Results
2002 6
2003 7
2004 12
2005 7
2006 12
2007 8
2008 15
2009 13
2010 21
2011 21
2012 16
2013 16
2014 20
2015 18
2016 11
2017 10
2018 10
2019 8
2020 2
2021 11
2022 4
2023 1
2024 0

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219 results

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Page 1
Hematologically important mutations: Leukocyte adhesion deficiency (second update).
Roos D, van Leeuwen K, Madkaikar M, Kambli PM, Gupta M, Mathews V, Rawat A, Kuhns DB, Holland SM, de Boer M, Kanegane H, Parvaneh N, Lorenz M, Schwarz K, Klein C, Sherkat R, Jafari M, Wolach B, den Dunnen JT, Kuijpers TW, Köker MY. Roos D, et al. Among authors: den dunnen jt. Blood Cells Mol Dis. 2023 Mar;99:102726. doi: 10.1016/j.bcmd.2023.102726. Epub 2023 Jan 20. Blood Cells Mol Dis. 2023. PMID: 36696755
New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements.
Romanelli Tavares VL, Guimarães-Ramos SL, Zhou Y, Masotti C, Ezquina S, Moreira DP, Buermans H, Freitas RS, Den Dunnen JT, Twigg SRF, Passos-Bueno MR. Romanelli Tavares VL, et al. Among authors: den dunnen jt. J Med Genet. 2022 Sep;59(9):895-905. doi: 10.1136/jmedgenet-2021-107825. Epub 2021 Nov 8. J Med Genet. 2022. PMID: 34750192 Free PMC article.
The Role of the European Society of Human Genetics in Delivering Genomic Education.
Tobias ES, Avram E, Calapod P, Cordier C, den Dunnen JT, Ding C, Dolzan V, Houge SD, Lynch SA, O'Byrne J, Patsalis P, Prokopenko I, Soares CA, Tobias AP, Newman WG. Tobias ES, et al. Among authors: den dunnen jt. Front Genet. 2021 Sep 3;12:693952. doi: 10.3389/fgene.2021.693952. eCollection 2021. Front Genet. 2021. PMID: 34539735 Free PMC article.
The LOVD3 platform: efficient genome-wide sharing of genetic variants.
Fokkema IFAC, Kroon M, López Hernández JA, Asscheman D, Lugtenburg I, Hoogenboom J, den Dunnen JT. Fokkema IFAC, et al. Among authors: den dunnen jt. Eur J Hum Genet. 2021 Dec;29(12):1796-1803. doi: 10.1038/s41431-021-00959-x. Epub 2021 Sep 15. Eur J Hum Genet. 2021. PMID: 34521998 Free PMC article.
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.
van der Sluijs PJ, Alders M, Dingemans AJM, Parbhoo K, van Bon BW, Dempsey JC, Doherty D, den Dunnen JT, Gerkes EH, Milller IM, Moortgat S, Regier DS, Ruivenkamp CAL, Schmalz B, Smol T, Stuurman KE, Vincent-Delorme C, de Vries BBA, Sadikovic B, Hickey SE, Rosenfeld JA, Maystadt I, Santen GWE. van der Sluijs PJ, et al. Among authors: den dunnen jt. Genes (Basel). 2021 Aug 20;12(8):1275. doi: 10.3390/genes12081275. Genes (Basel). 2021. PMID: 34440449 Free PMC article.
ACO2 clinicobiological dataset with extensive phenotype ontology annotation.
Guehlouz K, Foulonneau T, Amati-Bonneau P, Charif M, Colin E, Bris C, Desquiret-Dumas V, Milea D, Gohier P, Procaccio V, Bonneau D, den Dunnen JT, Lenaers G, Reynier P, Ferré M. Guehlouz K, et al. Among authors: den dunnen jt. Sci Data. 2021 Aug 5;8(1):205. doi: 10.1038/s41597-021-00984-x. Sci Data. 2021. PMID: 34354088 Free PMC article.
Stepwise ABC system for classification of any type of genetic variant.
Houge G, Laner A, Cirak S, de Leeuw N, Scheffer H, den Dunnen JT. Houge G, et al. Among authors: den dunnen jt. Eur J Hum Genet. 2022 Feb;30(2):150-159. doi: 10.1038/s41431-021-00903-z. Epub 2021 May 13. Eur J Hum Genet. 2022. PMID: 33981013 Free PMC article.
219 results