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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: verhoeven vjm. 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.
Diagnostic exome sequencing in 266 Dutch patients with visual impairment.
Haer-Wigman L, van Zelst-Stams WA, Pfundt R, van den Born LI, Klaver CC, Verheij JB, Hoyng CB, Breuning MH, Boon CJ, Kievit AJ, Verhoeven VJ, Pott JW, Sallevelt SC, van Hagen JM, Plomp AS, Kroes HY, Lelieveld SH, Hehir-Kwa JY, Castelein S, Nelen M, Scheffer H, Lugtenberg D, Cremers FP, Hoefsloot L, Yntema HG. Haer-Wigman L, et al. Eur J Hum Genet. 2017 May;25(5):591-599. doi: 10.1038/ejhg.2017.9. Epub 2017 Feb 22. Eur J Hum Genet. 2017. PMID: 28224992 Free PMC article.
Whole exome sequencing of known eye genes reveals genetic causes for high myopia.
Haarman AEG, Thiadens AAHJ, van Tienhoven M, Loudon SE, de Klein JEMMA, Brosens E, Polling JR, van der Schoot V, Bouman A, Kievit AJA, Hoefsloot LH, Klaver CCW, Verhoeven VJM. Haarman AEG, et al. Among authors: verhoeven vjm. Hum Mol Genet. 2022 Sep 29;31(19):3290-3298. doi: 10.1093/hmg/ddac113. Hum Mol Genet. 2022. PMID: 35567543 Free PMC article.
Myopia control in Mendelian forms of myopia.
van der Sande E, Polling JR, Tideman JWL, Meester-Smoor MA, Thiadens AAHJ, Tan E, De Zeeuw CI, Hamelink R, Willuhn I, Verhoeven VJM, Winkelman BHJ, Klaver CCW. van der Sande E, et al. Among authors: verhoeven vjm. Ophthalmic Physiol Opt. 2023 May;43(3):494-504. doi: 10.1111/opo.13115. Epub 2023 Mar 7. Ophthalmic Physiol Opt. 2023. PMID: 36882953
Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing.
Haarman AEG, Klaver CCW, Tedja MS, Roosing S, Astuti G, Gilissen C, Hoefsloot LH, van Tienhoven M, Brands T, Magielsen FJ, Eussen BHJFMM, de Klein A, Brosens E, Verhoeven VJM. Haarman AEG, et al. Among authors: verhoeven vjm. Ophthalmol Sci. 2023 Apr 6;3(4):100303. doi: 10.1016/j.xops.2023.100303. eCollection 2023 Dec. Ophthalmol Sci. 2023. PMID: 37250922 Free PMC article.
Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia.
Guggenheim JA, Clark R, Cui J, Terry L, Patasova K, Haarman AEG, Musolf AM, Verhoeven VJM, Klaver CCW, Bailey-Wilson JE, Hysi PG, Williams C; CREAM Consortium; UK Biobank Eye Vision Consortium. Guggenheim JA, et al. Among authors: verhoeven vjm. Hum Mol Genet. 2022 Jun 4;31(11):1909-1919. doi: 10.1093/hmg/ddac004. Hum Mol Genet. 2022. PMID: 35022715 Free PMC article.
Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.
Musolf AM, Haarman AEG, Luben RN, Ong JS, Patasova K, Trapero RH, Marsh J, Jain I, Jain R, Wang PZ, Lewis DD, Tedja MS, Iglesias AI, Li H, Cowan CS; Consortium for Refractive Error and Myopia (CREAM); Biino G, Klein AP, Duggal P, Mackey DA, Hayward C, Haller T, Metspalu A, Wedenoja J, Pärssinen O, Cheng CY, Saw SM, Stambolian D, Hysi PG, Khawaja AP, Vitart V, Hammond CJ, van Duijn CM, Verhoeven VJM, Klaver CCW, Bailey-Wilson JE. Musolf AM, et al. Among authors: verhoeven vjm. Commun Biol. 2023 Jan 3;6(1):6. doi: 10.1038/s42003-022-04323-7. Commun Biol. 2023. PMID: 36596879 Free PMC article.
NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield.
Overwater E, Floor K, van Beek D, de Boer K, van Dijk T, Hilhorst-Hofstee Y, Hoogeboom AJM, van Kaam KJ, van de Kamp JM, Kempers M, Krapels IPC, Kroes HY, Loeys B, Salemink S, Stumpel CTRM, Verhoeven VJM, Wijnands-van den Berg E, Cobben JM, van Tintelen JP, Weiss MM, Houweling AC, Maugeri A. Overwater E, et al. Among authors: verhoeven vjm. Eur J Med Genet. 2017 Sep;60(9):465-473. doi: 10.1016/j.ejmg.2017.06.005. Epub 2017 Jun 19. Eur J Med Genet. 2017. PMID: 28642162
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Dekker J, Schot R, Bongaerts M, de Valk WG, van Veghel-Plandsoen MM, Monfils K, Douben H, Elfferich P, Kasteleijn E, van Unen LMA, Geeven G, Saris JJ, van Ierland Y, Verheijen FW, van der Sterre MLT, Sadeghi Niaraki F, Smits DJ, Huidekoper HH, Williams M, Wilke M, Verhoeven VJM, Joosten M, Kievit AJA, van de Laar IMBH, Hoefsloot LH, Hoogeveen-Westerveld M, Nellist M, Mancini GMS, van Ham TJ. Dekker J, et al. Among authors: verhoeven vjm. Am J Hum Genet. 2023 Feb 2;110(2):251-272. doi: 10.1016/j.ajhg.2022.12.015. Epub 2023 Jan 19. Am J Hum Genet. 2023. PMID: 36669495 Free PMC article.
57 results