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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.
Genome sequencing identifies major causes of severe intellectual disability.
Gilissen C, Hehir-Kwa JY, Thung DT, van de Vorst M, van Bon BW, Willemsen MH, Kwint M, Janssen IM, Hoischen A, Schenck A, Leach R, Klein R, Tearle R, Bo T, Pfundt R, Yntema HG, de Vries BB, Kleefstra T, Brunner HG, Vissers LE, Veltman JA. Gilissen C, et al. Among authors: van de vorst m. Nature. 2014 Jul 17;511(7509):344-7. doi: 10.1038/nature13394. Epub 2014 Jun 4. Nature. 2014. PMID: 24896178 Free article.
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.
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.
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
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.
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.
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.
Jansen S, Hoischen A, Coe BP, Carvill GL, Van Esch H, Bosch DGM, Andersen UA, Baker C, Bauters M, Bernier RA, van Bon BW, Claahsen-van der Grinten HL, Gecz J, Gilissen C, Grillo L, Hackett A, Kleefstra T, Koolen D, Kvarnung M, Larsen MJ, Marcelis C, McKenzie F, Monin ML, Nava C, Schuurs-Hoeijmakers JH, Pfundt R, Steehouwer M, Stevens SJC, Stumpel CT, Vansenne F, Vinci M, van de Vorst M, Vries P, Witherspoon K, Veltman JA, Brunner HG, Mefford HC, Romano C, Vissers LELM, Eichler EE, de Vries BBA. Jansen S, et al. Among authors: van de vorst m. Eur J Hum Genet. 2018 Jan;26(1):54-63. doi: 10.1038/s41431-017-0039-5. Epub 2017 Dec 5. Eur J Hum Genet. 2018. PMID: 29209020 Free PMC article.
24 results