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

Year Number of Results
2005 2
2006 2
2007 1
2008 3
2009 7
2010 3
2011 6
2012 2
2013 3
2014 4
2015 2
2016 3
2017 5
2018 8
2019 4
2020 8
2021 2
2022 2
2023 1
2024 1

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63 results

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Page 1
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.
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.
Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.
Ghorbani F, Alimohamed MZ, Vilacha JF, Van Dijk KK, De Boer-Bergsma J, Fokkens MR, Lemmink H, Sijmons RH, Sikkema-Raddatz B, Groves MR, Verschuuren-Bemelmans CC, Verbeek DS, Van Diemen CC, Westers H. Ghorbani F, et al. Among authors: van diemen cc. Front Genet. 2022 Mar 25;13:782685. doi: 10.3389/fgene.2022.782685. eCollection 2022. Front Genet. 2022. PMID: 35401678 Free PMC article.
Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital.
Imafidon ME, Sikkema-Raddatz B, Abbott KM, Meems-Veldhuis MT, Swertz MA, van der Velde KJ, Beunders G, Bos DK, Knoers NVAM, Kerstjens-Frederikse WS, van Diemen CC. Imafidon ME, et al. Among authors: van diemen cc. Front Pediatr. 2021 May 31;9:600556. doi: 10.3389/fped.2021.600556. eCollection 2021. Front Pediatr. 2021. PMID: 34136434 Free PMC article.
Exome sequencing in patient-parent trios suggests new candidate genes for early-onset primary sclerosing cholangitis.
Haisma SM, Weersma RK, Joosse ME, de Koning BAE, de Meij T, Koot BGP, Wolters V, Norbruis O, Daly MJ, Stevens C, Xavier RJ, Koskela J, Rivas MA, Visschedijk MC, Verkade HJ, Barbieri R, Jansen DBH, Festen EAM, van Rheenen PF, van Diemen CC. Haisma SM, et al. Among authors: van diemen cc. Liver Int. 2021 May;41(5):1044-1057. doi: 10.1111/liv.14831. Epub 2021 Mar 11. Liver Int. 2021. PMID: 33590606 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
CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations.
Li S, van der Velde KJ, de Ridder D, van Dijk ADJ, Soudis D, Zwerwer LR, Deelen P, Hendriksen D, Charbon B, van Gijn ME, Abbott K, Sikkema-Raddatz B, van Diemen CC, Kerstjens-Frederikse WS, Sinke RJ, Swertz MA. Li S, et al. Among authors: van diemen cc. Genome Med. 2020 Aug 24;12(1):75. doi: 10.1186/s13073-020-00775-w. Genome Med. 2020. PMID: 32831124 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.
A cross-omics integrative study of metabolic signatures of chronic obstructive pulmonary disease.
Prokić I, Lahousse L, de Vries M, Liu J, Kalaoja M, Vonk JM, van der Plaat DA, van Diemen CC, van der Spek A, Zhernakova A, Fu J, Ghanbari M, Ala-Korpela M, Kettunen J, Havulinna AS, Perola M, Salomaa V, Lind L, Ärnlöv J, Stricker BHC, Brusselle GG, Boezen HM, van Duijn CM, Amin N. Prokić I, et al. Among authors: van diemen cc. BMC Pulm Med. 2020 Jul 16;20(1):193. doi: 10.1186/s12890-020-01222-7. BMC Pulm Med. 2020. PMID: 32677943 Free PMC article.
63 results