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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.
Pathogenic: light or dark skin?
den Dunnen JT. den Dunnen JT. Hum Mutat. 2014 May;35(5):520. doi: 10.1002/humu.22543. Epub 2014 Apr 7. Hum Mutat. 2014. PMID: 24610774
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.
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.
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.
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.
Santen GW, Aten E, Vulto-van Silfhout AT, Pottinger C, van Bon BW, van Minderhout IJ, Snowdowne R, van der Lans CA, Boogaard M, Linssen MM, Vijfhuizen L, van der Wielen MJ, Vollebregt MJ; Coffin-Siris consortium; Breuning MH, Kriek M, van Haeringen A, den Dunnen JT, Hoischen A, Clayton-Smith J, de Vries BB, Hennekam RC, van Belzen MJ. Santen GW, et al. Among authors: den dunnen jt. Hum Mutat. 2013 Nov;34(11):1519-28. doi: 10.1002/humu.22394. Epub 2013 Aug 30. Hum Mutat. 2013. PMID: 23929686
349 results