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Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.
Elsink K, Huibers MMH, Hollink IHIM, Simons A, Zonneveld-Huijssoon E, van der Veken LT, Leavis HL, Henriet SSV, van Deuren M, van de Veerdonk FL, Potjewijd J, Berghuis D, Dalm VASH, Vermont CL, van de Ven AAJM, Lambeck AJA, Abbott KM, van Hagen PM, de Bree GJ, Kuijpers TW, Frederix GWJ, van Gijn ME, van Montfrans JM; Genetics First for Primary Immunodeficiency Disorders Consortium. Elsink K, et al. Among authors: frederix gwj. Front Immunol. 2021 Dec 21;12:780134. doi: 10.3389/fimmu.2021.780134. eCollection 2021. Front Immunol. 2021. PMID: 34992599 Free PMC article.
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.
Olde Keizer RACM, Marouane A, Kerstjens-Frederikse WS, Deden AC, Lichtenbelt KD, Jonckers T, Vervoorn M, Vreeburg M, Henneman L, de Vries LS, Sinke RJ, Pfundt R, Stevens SJC, Andriessen P, van Lingen RA, Nelen M, Scheffer H, Stemkens D, Oosterwijk C, van Amstel HKP, de Boode WP, van Zelst-Stams WAG, Frederix GWJ, Vissers LELM; RADICON-NL consortium. Olde Keizer RACM, et al. Among authors: frederix gwj. Eur J Pediatr. 2023 Jun;182(6):2683-2692. doi: 10.1007/s00431-023-04909-1. Epub 2023 Mar 31. Eur J Pediatr. 2023. PMID: 36997769 Free PMC article.
Is It Our Duty To Hunt for Pathogenic Mutations?
Wouters RHP, Bijlsma RM, Frederix GWJ, Ausems MGEM, van Delden JJM, Voest EE, Bredenoord AL. Wouters RHP, et al. Among authors: frederix gwj. Trends Mol Med. 2018 Jan;24(1):3-6. doi: 10.1016/j.molmed.2017.11.008. Epub 2017 Dec 12. Trends Mol Med. 2018. PMID: 29246758
Micro-costing diagnostics in oncology: from single-gene testing to whole- genome sequencing.
Pasmans CTB, Tops BBJ, Steeghs EMP, Coupé VMH, Grünberg K, de Jong EK, Schuuring EMD, Willems SM, Ligtenberg MJL, Retèl VP, van Snellenberg H, de Bruijn E, Cuppen E, Frederix GWJ. Pasmans CTB, et al. Among authors: frederix gwj. Expert Rev Pharmacoecon Outcomes Res. 2021 Jun;21(3):413-414. doi: 10.1080/14737167.2021.1917385. Epub 2021 May 6. Expert Rev Pharmacoecon Outcomes Res. 2021. PMID: 33852815
Clinical utility of whole-genome sequencing in precision oncology.
Rosenquist R, Cuppen E, Buettner R, Caldas C, Dreau H, Elemento O, Frederix G, Grimmond S, Haferlach T, Jobanputra V, Meggendorfer M, Mullighan CG, Wordsworth S, Schuh A. Rosenquist R, et al. Semin Cancer Biol. 2022 Sep;84:32-39. doi: 10.1016/j.semcancer.2021.06.018. Epub 2021 Jun 25. Semin Cancer Biol. 2022. PMID: 34175442 Review.
Diagnostic accuracy of Ara h 2 for detecting peanut allergy in children.
Kansen HM, van Erp FC, Meijer Y, Gorissen DMW, Stadermann M, van Velzen MF, Keusters WR, Frederix GWJ, Knulst AC, van der CK, Le TM. Kansen HM, et al. Among authors: frederix gwj. Clin Exp Allergy. 2021 Aug;51(8):1069-1079. doi: 10.1111/cea.13987. Epub 2021 Jul 29. Clin Exp Allergy. 2021. PMID: 34288182 Free PMC article.
Implementation of Whole-Genome and Transcriptome Sequencing Into Clinical Cancer Care.
Cuppen E, Elemento O, Rosenquist R, Nikic S, IJzerman M, Zaleski ID, Frederix G, Levin LÅ, Mullighan CG, Buettner R, Pugh TJ, Grimmond S, Caldas C, Andre F, Custers I, Campo E, van Snellenberg H, Schuh A, Nakagawa H, von Kalle C, Haferlach T, Fröhling S, Jobanputra V. Cuppen E, et al. JCO Precis Oncol. 2022 Dec;6:e2200245. doi: 10.1200/PO.22.00245. JCO Precis Oncol. 2022. PMID: 36480778 Free PMC article. Review.
Study protocol: Whole genome sequencing Implementation in standard Diagnostics for Every cancer patient (WIDE).
Samsom KG, Bosch LJW, Schipper LJ, Roepman P, de Bruijn E, Hoes LR, Riethorst I, Schoenmaker L, van der Kolk LE, Retèl VP, Frederix GWJ, Buffart TE, van der Hoeven JJM, Voest EE, Cuppen E, Monkhorst K, Meijer GA. Samsom KG, et al. Among authors: frederix gwj. BMC Med Genomics. 2020 Nov 10;13(1):169. doi: 10.1186/s12920-020-00814-w. BMC Med Genomics. 2020. PMID: 33167975 Free PMC article.
104 results