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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.
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
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, de vries pf, de vries bba, van dijck a. 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.
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS.
Tracewska-Siemiątkowska A, Haer-Wigman L, Bosch DGM, Nickerson D, Bamshad MJ; University of Washington Center for Mendelian Genomics; van de Vorst M, Rendtorff ND, Möller C, Kjellström U, Andréasson S, Cremers FPM, Tranebjærg L. Tracewska-Siemiątkowska A, et al. Among authors: van de vorst m. Genes (Basel). 2017 Dec 11;8(12):381. doi: 10.3390/genes8120381. Genes (Basel). 2017. PMID: 29232904 Free PMC article.
Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia.
Oud MS, Ramos L, O'Bryan MK, McLachlan RI, Okutman Ö, Viville S, de Vries PF, Smeets DFCM, Lugtenberg D, Hehir-Kwa JY, Gilissen C, van de Vorst M, Vissers LELM, Hoischen A, Meijerink AM, Fleischer K, Veltman JA, Noordam MJ. Oud MS, et al. Among authors: van de vorst m, de vries pf. Hum Mutat. 2017 Nov;38(11):1592-1605. doi: 10.1002/humu.23312. Epub 2017 Sep 6. Hum Mutat. 2017. PMID: 28801929
35 results