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Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing.
de Lange IM, Koudijs MJ, van 't Slot R, Sonsma ACM, Mulder F, Carbo EC, van Kempen MJA, Nijman IJ, Ernst RF, Savelberg SMC, Knoers NVAM, Brilstra EH, Koeleman BPC. de Lange IM, et al. Among authors: carbo ec. J Med Genet. 2019 Feb;56(2):75-80. doi: 10.1136/jmedgenet-2018-105672. Epub 2018 Oct 27. J Med Genet. 2019. PMID: 30368457
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.
Monroe GR, Frederix GW, Savelberg SM, de Vries TI, Duran KJ, van der Smagt JJ, Terhal PA, van Hasselt PM, Kroes HY, Verhoeven-Duif NM, Nijman IJ, Carbo EC, van Gassen KL, Knoers NV, Hövels AM, van Haelst MM, Visser G, van Haaften G. Monroe GR, et al. Among authors: carbo ec. Genet Med. 2016 Sep;18(9):949-56. doi: 10.1038/gim.2015.200. Epub 2016 Feb 4. Genet Med. 2016. PMID: 26845106 Free article.
Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.
de Lange IM, Koudijs MJ, van 't Slot R, Gunning B, Sonsma ACM, van Gemert LJJM, Mulder F, Carbo EC, van Kempen MJA, Verbeek NE, Nijman IJ, Ernst RF, Savelberg SMC, Knoers NVAM, Brilstra EH, Koeleman BPC. de Lange IM, et al. Among authors: carbo ec. Epilepsia. 2018 Mar;59(3):690-703. doi: 10.1111/epi.14021. Epub 2018 Feb 20. Epilepsia. 2018. PMID: 29460957
New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).
Van Gijn ME, Ceccherini I, Shinar Y, Carbo EC, Slofstra M, Arostegui JI, Sarrabay G, Rowczenio D, Omoyımnı E, Balci-Peynircioglu B, Hoffman HM, Milhavet F, Swertz MA, Touitou I. Van Gijn ME, et al. Among authors: carbo ec. J Med Genet. 2018 Aug;55(8):530-537. doi: 10.1136/jmedgenet-2017-105216. Epub 2018 Mar 29. J Med Genet. 2018. PMID: 29599418
Recommendations for the introduction of metagenomic next-generation sequencing in clinical virology, part II: bioinformatic analysis and reporting.
de Vries JJC, Brown JR, Couto N, Beer M, Le Mercier P, Sidorov I, Papa A, Fischer N, Oude Munnink BB, Rodriquez C, Zaheri M, Sayiner A, Hönemann M, Cataluna AP, Carbo EC, Bachofen C, Kubacki J, Schmitz D, Tsioka K, Matamoros S, Höper D, Hernandez M, Puchhammer-Stöckl E, Lebrand A, Huber M, Simmonds P, Claas ECJ, López-Labrador FX; ESCV Network on Next-Generation Sequencing. de Vries JJC, et al. Among authors: carbo ec. J Clin Virol. 2021 May;138:104812. doi: 10.1016/j.jcv.2021.104812. Epub 2021 Mar 26. J Clin Virol. 2021. PMID: 33819811 Free article.
Retrospective Validation of a Metagenomic Sequencing Protocol for Combined Detection of RNA and DNA Viruses Using Respiratory Samples from Pediatric Patients.
van Boheemen S, van Rijn AL, Pappas N, Carbo EC, Vorderman RHP, Sidorov I, van T Hof PJ, Mei H, Claas ECJ, Kroes ACM, de Vries JJC. van Boheemen S, et al. Among authors: carbo ec. J Mol Diagn. 2020 Feb;22(2):196-207. doi: 10.1016/j.jmoldx.2019.10.007. Epub 2019 Dec 16. J Mol Diagn. 2020. PMID: 31837435 Free PMC article.
18 results