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Year Number of Results
2014 2
2015 2
2016 2
2017 5
2018 3
2019 4
2020 3
2021 2
2022 1
2023 1
2024 0

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24 results

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Page 1
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM, Hitti-Malin RJ, Holtes LK, de Bruijn SE, Reurink J, Boonen EGM, Khan MI, Ali M, Andréasson S, De Baere E, Banfi S, Bauwens M, Ben-Yosef T, Bocquet B, De Bruyne M, de la Cerda B, Coppieters F, Farinelli P, Guignard T, Inglehearn CF, Karali M, Kjellström U, Koenekoop R, de Koning B, Leroy BP, McKibbin M, Meunier I, Nikopoulos K, Nishiguchi KM, Poulter JA, Rivolta C, Rodríguez de la Rúa E, Saunders P, Simonelli F, Tatour Y, Testa F, Thiadens AAHJ, Toomes C, Tracewska AM, Tran HV, Ushida H, Vaclavik V, Verhoeven VJM, van de Vorst M, Gilissen C, Hoischen A, Cremers FPM, Roosing S. Panneman DM, et al. Among authors: van de vorst m. Front Cell Dev Biol. 2023 Feb 3;11:1112270. doi: 10.3389/fcell.2023.1112270. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 36819107 Free PMC article.
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.
Hitti-Malin RJ, Dhaenens CM, Panneman DM, Corradi Z, Khan M, den Hollander AI, Farrar GJ, Gilissen C, Hoischen A, van de Vorst M, Bults F, Boonen EGM, Saunders P; MD Study Group; Roosing S, Cremers FPM. Hitti-Malin RJ, et al. Among authors: van de vorst m. Hum Mutat. 2022 Dec;43(12):2234-2250. doi: 10.1002/humu.24489. Epub 2022 Oct 31. Hum Mutat. 2022. PMID: 36259723 Free PMC article.
Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline.
Hoegen B, Zammit A, Gerritsen A, Engelke UFH, Castelein S, van de Vorst M, Kluijtmans LAJ, Huigen MCDG, Wevers RA, van Gool AJ, Gilissen C, Coene KLM, Kulkarni P. Hoegen B, et al. Among authors: van de vorst m. Metabolites. 2021 Aug 26;11(9):568. doi: 10.3390/metabo11090568. Metabolites. 2021. PMID: 34564390 Free PMC article.
Mutational landscape and patterns of clonal evolution in relapsed pediatric acute lymphoblastic leukemia.
Waanders E, Gu Z, Dobson SM, Antić Ž, Crawford JC, Ma X, Edmonson MN, Payne-Turner D, van de Vorst M, Jongmans MCJ, McGuire I, Zhou X, Wang J, Shi L, Pounds S, Pei D, Cheng C, Song G, Fan Y, Shao Y, Rusch M, McCastlain K, Yu J, van Boxtel R, Blokzijl F, Iacobucci I, Roberts KG, Wen J, Wu G, Ma J, Easton J, Neale G, Olsen SR, Nichols KE, Pui CH, Zhang J, Evans WE, Relling MV, Yang JJ, Thomas PG, Dick JE, Kuiper RP, Mullighan CG. Waanders E, et al. Among authors: van de vorst m. Blood Cancer Discov. 2020 Jul;1(1):96-111. doi: 10.1158/0008-5472.BCD-19-0041. Blood Cancer Discov. 2020. PMID: 32793890 Free PMC article.
Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders.
van der Werf IM, Jansen S, de Vries PF, Gerstmans A, van de Vorst M, Van Dijck A, de Vries BBA, Gilissen C, Hoischen A, Vissers LELM, Kooy RF, Vandeweyer G. van der Werf IM, et al. Among authors: van de vorst m. Eur J Hum Genet. 2020 Dec;28(12):1726-1733. doi: 10.1038/s41431-020-0682-0. Epub 2020 Jul 10. Eur J Hum Genet. 2020. PMID: 32651551 Free PMC article.
Rare genetic variants in interleukin-37 link this anti-inflammatory cytokine to the pathogenesis and treatment of gout.
Klück V, van Deuren RC, Cavalli G, Shaukat A, Arts P, Cleophas MC, Crișan TO, Tausche AK, Riches P, Dalbeth N, Stamp LK, Hindmarsh JH, Jansen TLTA, Janssen M, Steehouwer M, Lelieveld S, van de Vorst M, Gilissen C, Dagna L, Van de Veerdonk FL, Eisenmesser EZ, Kim S, Merriman TR, Hoischen A, Netea MG, Dinarello CA, Joosten LA. Klück V, et al. Among authors: van de vorst m. Ann Rheum Dis. 2020 Apr;79(4):536-544. doi: 10.1136/annrheumdis-2019-216233. Epub 2020 Feb 29. Ann Rheum Dis. 2020. PMID: 32114511
Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland.
Tracewska AM, Kocyła-Karczmarewicz B, Rafalska A, Murawska J, Jakubaszko-Jablonska J, Rydzanicz M, Stawiński P, Ciara E, Khan MI, Henkes A, Hoischen A, Gilissen C, van de Vorst M, Cremers FPM, Płoski R, Chrzanowska KH. Tracewska AM, et al. Among authors: van de vorst m. Genes (Basel). 2019 Nov 21;10(12):959. doi: 10.3390/genes10120959. Genes (Basel). 2019. PMID: 31766579 Free PMC article.
Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.
Khan M, Cornelis SS, Khan MI, Elmelik D, Manders E, Bakker S, Derks R, Neveling K, van de Vorst M, Gilissen C, Meunier I, Defoort S, Puech B, Devos A, Schulz HL, Stöhr H, Grassmann F, Weber BHF, Dhaenens CM, Cremers FPM. Khan M, et al. Among authors: van de vorst m. Hum Mutat. 2019 Oct;40(10):1749-1759. doi: 10.1002/humu.23787. Epub 2019 Jun 18. Hum Mutat. 2019. PMID: 31212395
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts P, Simons A, AlZahrani MS, Yilmaz E, AlIdrissi E, van Aerde KJ, Alenezi N, AlGhamdi HA, AlJubab HA, Al-Hussaini AA, AlManjomi F, Alsaad AB, Alsaleem B, Andijani AA, Asery A, Ballourah W, Bleeker-Rovers CP, van Deuren M, van der Flier M, Gerkes EH, Gilissen C, Habazi MK, Hehir-Kwa JY, Henriet SS, Hoppenreijs EP, Hortillosa S, Kerkhofs CH, Keski-Filppula R, Lelieveld SH, Lone K, MacKenzie MA, Mensenkamp AR, Moilanen J, Nelen M, Ten Oever J, Potjewijd J, van Paassen P, Schuurs-Hoeijmakers JHM, Simon A, Stokowy T, van de Vorst M, Vreeburg M, Wagner A, van Well GTJ, Zafeiropoulou D, Zonneveld-Huijssoon E, Veltman JA, van Zelst-Stams WAG, Faqeih EA, van de Veerdonk FL, Netea MG, Hoischen A. Arts P, et al. Among authors: van de vorst m. Genome Med. 2019 Jun 17;11(1):38. doi: 10.1186/s13073-019-0649-3. Genome Med. 2019. PMID: 31203817 Free PMC article.
24 results