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Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Reurink J, Weisschuh N, Garanto A, Dockery A, van den Born LI, Fajardy I, Haer-Wigman L, Kohl S, Wissinger B, Farrar GJ, Ben-Yosef T, Pfiffner FK, Berger W, Weener ME, Dudakova L, Liskova P, Sharon D, Salameh M, Offenheim A, Heon E, Girotto G, Gasparini P, Morgan A, Bergen AA, Ten Brink JB, Klaver CCW, Tranebjærg L, Rendtorff ND, Vermeer S, Smits JJ, Pennings RJE, Aben M, Oostrik J, Astuti GDN, Corominas Galbany J, Kroes HY, Phan M, van Zelst-Stams WAG, Thiadens AAHJ, Verheij JBGM, van Schooneveld MJ, de Bruijn SE, Li CHZ, Hoyng CB, Gilissen C, Vissers LELM, Cremers FPM, Kremer H, van Wijk E, Roosing S. Reurink J, et al. Among authors: van schooneveld mj. HGG Adv. 2023 Jan 18;4(2):100181. doi: 10.1016/j.xhgg.2023.100181. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 36785559 Free PMC article.
Retinal vascular lesions in patients of Caucasian and Asian origin with type 2 diabetes: baseline results from the ADVANCE Retinal Measurements (AdRem) study.
Stolk RP, van Schooneveld MJ, Cruickshank JK, Hughes AD, Stanton A, Lu J, Patel A, Thom SA, Grobbee DE, Vingerling JR; AdRem Project Team and ADVANCE Management Committee. Stolk RP, et al. Among authors: van schooneveld mj. Diabetes Care. 2008 Apr;31(4):708-13. doi: 10.2337/dc07-1657. Epub 2008 Jan 9. Diabetes Care. 2008. PMID: 18184903 Free article.
Peters' anomaly and systemic defects.
van Schooneveld MJ, Delleman JW, Beemer FA, Bleeker-Wagemakers LM. van Schooneveld MJ, et al. Arch Ophthalmol. 1986 Aug;104(8):1130. doi: 10.1001/archopht.1986.01050200036031. Arch Ophthalmol. 1986. PMID: 3741236 No abstract available.
A new autosomal dominant vascular retinopathy syndrome.
Storimans CW, Van Schooneveld MJ, Oosterhuis JA, Bos PJ. Storimans CW, et al. Among authors: van schooneveld mj. Eur J Ophthalmol. 1991 Apr-Jun;1(2):73-8. doi: 10.1177/112067219100100204. Eur J Ophthalmol. 1991. PMID: 1821204
Peters'-plus: a new syndrome.
van Schooneveld MJ, Delleman JW, Beemer FA, Bleeker-Wagemakers EM. van Schooneveld MJ, et al. Ophthalmic Paediatr Genet. 1984 Dec;4(3):141-5. doi: 10.3109/13816818409006113. Ophthalmic Paediatr Genet. 1984. PMID: 6443615
91 results