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49 results

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Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.
Fadaie Z, Whelan L, Ben-Yosef T, Dockery A, Corradi Z, Gilissen C, Haer-Wigman L, Corominas J, Astuti GDN, de Rooij L, van den Born LI, Klaver CCW, Hoyng CB, Wynne N, Duignan ES, Kenna PF, Cremers FPM, Farrar GJ, Roosing S. Fadaie Z, et al. NPJ Genom Med. 2021 Nov 18;6(1):97. doi: 10.1038/s41525-021-00261-1. NPJ Genom Med. 2021. PMID: 34795310 Free PMC article.
Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.
Maria M, Ajmal M, Azam M, Waheed NK, Siddiqui SN, Mustafa B, Ayub H, Ali L, Ahmad S, Micheal S, Hussain A, Shah ST, Ali SH, Ahmed W, Khan YM, den Hollander AI, Haer-Wigman L, Collin RW, Khan MI, Qamar R, Cremers FP. Maria M, et al. PLoS One. 2015 Mar 16;10(3):e0119806. doi: 10.1371/journal.pone.0119806. eCollection 2015. PLoS One. 2015. PMID: 25775262 Free PMC article.
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
Haer-Wigman L, Newman H, Leibu R, Bax NM, Baris HN, Rizel L, Banin E, Massarweh A, Roosing S, Lefeber DJ, Zonneveld-Vrieling MN, Isakov O, Shomron N, Sharon D, Den Hollander AI, Hoyng CB, Cremers FP, Ben-Yosef T. Haer-Wigman L, et al. Hum Mol Genet. 2015 Jul 1;24(13):3742-51. doi: 10.1093/hmg/ddv118. Epub 2015 Apr 9. Hum Mol Genet. 2015. PMID: 25859010 Free PMC article.
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Bedoni N, Haer-Wigman L, Vaclavik V, Tran VH, Farinelli P, Balzano S, Royer-Bertrand B, El-Asrag ME, Bonny O, Ikonomidis C, Litzistorf Y, Nikopoulos K, Yioti GG, Stefaniotou MI, McKibbin M, Booth AP, Ellingford JM, Black GC, Toomes C, Inglehearn CF, Hoyng CB, Bax N, Klaver CC, Thiadens AA, Murisier F, Schorderet DF, Ali M, Cremers FP, Andréasson S, Munier FL, Rivolta C. Bedoni N, et al. Hum Mol Genet. 2016 Oct 15;25(20):4546-4555. doi: 10.1093/hmg/ddw282. Hum Mol Genet. 2016. PMID: 28173158 Free 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 Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.
Pierrache LHM, Kimchi A, Ratnapriya R, Roberts L, Astuti GDN, Obolensky A, Beryozkin A, Tjon-Fo-Sang MJH, Schuil J, Klaver CCW, Bongers EMHF, Haer-Wigman L, Schalij N, Breuning MH, Fischer GM, Banin E, Ramesar RS, Swaroop A, van den Born LI, Sharon D, Cremers FPM. Pierrache LHM, et al. Ophthalmology. 2017 Jul;124(7):992-1003. doi: 10.1016/j.ophtha.2017.03.010. Epub 2017 Apr 13. Ophthalmology. 2017. PMID: 28412069 Free PMC article.
Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.
Nguyen TT, Hull S, Roepman R, van den Born LI, Oud MM, de Vrieze E, Hetterschijt L, Letteboer SJF, van Beersum SEC, Blokland EA, Yntema HG, Cremers FPM, van der Zwaag PA, Arno G, van Wijk E, Webster AR, Haer-Wigman L. Nguyen TT, et al. J Med Genet. 2017 Sep;54(9):624-632. doi: 10.1136/jmedgenet-2016-104200. Epub 2017 Apr 25. J Med Genet. 2017. PMID: 28442542 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. Genes (Basel). 2017 Dec 11;8(12):381. doi: 10.3390/genes8120381. Genes (Basel). 2017. PMID: 29232904 Free PMC article.
49 results