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GAVIN: Gene-Aware Variant INterpretation for medical sequencing.
van der Velde KJ, de Boer EN, van Diemen CC, Sikkema-Raddatz B, Abbott KM, Knopperts A, Franke L, Sijmons RH, de Koning TJ, Wijmenga C, Sinke RJ, Swertz MA. van der Velde KJ, et al. Among authors: van diemen cc. Genome Biol. 2017 Jan 16;18(1):6. doi: 10.1186/s13059-016-1141-7. Genome Biol. 2017. PMID: 28093075 Free PMC article.
Targeted RNA-Sequencing Enables Detection of Relevant Translocations and Single Nucleotide Variants and Provides a Method for Classification of Hematological Malignancies-RANKING.
de Lange K, de Boer EN, Bosga A, Alimohamed MZ, Johansson LF, Mulder AB, Vellenga E, van Diemen CC, Deelen P, van den Berg E, Sikkema-Raddatz B. de Lange K, et al. Among authors: van diemen cc. Clin Chem. 2020 Dec 1;66(12):1521-1530. doi: 10.1093/clinchem/hvaa221. Clin Chem. 2020. PMID: 33257979
Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia.
Ghorbani F, de Boer-Bergsma J, Verschuuren-Bemelmans CC, Pennings M, de Boer EN, Kremer B, Vanhoutte EK, de Vries JJ, van de Berg R, Kamsteeg EJ, van Diemen CC, Westers H, van de Warrenburg BP, Verbeek DS. Ghorbani F, et al. Among authors: van diemen cc. J Neurol. 2022 Nov;269(11):6086-6093. doi: 10.1007/s00415-022-11275-9. Epub 2022 Jul 21. J Neurol. 2022. PMID: 35864213 Free PMC article.
A pipeline-friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature.
van der Velde KJ, van den Hoek S, van Dijk F, Hendriksen D, van Diemen CC, Johansson LF, Abbott KM, Deelen P, Sikkema-Raddatz B, Swertz MA. van der Velde KJ, et al. Among authors: van diemen cc. Adv Genet (Hoboken). 2020 Aug 10;1(1):e10023. doi: 10.1002/ggn2.10023. eCollection 2020 Dec. Adv Genet (Hoboken). 2020. PMID: 36619248 Free PMC article.
Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia.
Ghorbani F, de Boer EN, Benjamins-Stok M, Verschuuren-Bemelmans CC, Knapper J, de Boer-Bergsma J, de Vries JJ, Sikkema-Raddatz B, Verbeek DS, Westers H, van Diemen CC. Ghorbani F, et al. Among authors: van diemen cc. Neurol Genet. 2023 Feb 2;9(1):e200050. doi: 10.1212/NXG.0000000000200050. eCollection 2023 Feb. Neurol Genet. 2023. PMID: 38058854 Free PMC article.
Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2.
Visschedijk MC, Alberts R, Mucha S, Deelen P, de Jong DJ, Pierik M, Spekhorst LM, Imhann F, van der Meulen-de Jong AE, van der Woude CJ, van Bodegraven AA, Oldenburg B, Löwenberg M, Dijkstra G, Ellinghaus D, Schreiber S, Wijmenga C; Initiative on Crohn and Colitis; Parelsnoer Institute; Rivas MA, Franke A, van Diemen CC, Weersma RK. Visschedijk MC, et al. Among authors: van der woude cj, van bodegraven aa, van diemen cc, van der meulen de jong ae. PLoS One. 2016 Aug 4;11(8):e0159609. doi: 10.1371/journal.pone.0159609. eCollection 2016. PLoS One. 2016. PMID: 27490946 Free PMC article.
Rapid Targeted Genomics in Critically Ill Newborns.
van Diemen CC, Kerstjens-Frederikse WS, Bergman KA, de Koning TJ, Sikkema-Raddatz B, van der Velde JK, Abbott KM, Herkert JC, Löhner K, Rump P, Meems-Veldhuis MT, Neerincx PBT, Jongbloed JDH, van Ravenswaaij-Arts CM, Swertz MA, Sinke RJ, van Langen IM, Wijmenga C. van Diemen CC, et al. Among authors: van der velde jk, van ravenswaaij arts cm, van langen im. Pediatrics. 2017 Oct;140(4):e20162854. doi: 10.1542/peds.2016-2854. Pediatrics. 2017. PMID: 28939701 Clinical Trial.
67 results