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Page 1
The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants.
Runhart EH, Sangermano R, Cornelis SS, Verheij JBGM, Plomp AS, Boon CJF, Lugtenberg D, Roosing S, Bax NM, Blokland EAW, Jacobs-Camps MHM, van der Velde-Visser SD, Pott JR, Rohrschneider K, Thiadens AAHJ, Klaver CCW, van den Born LI, Hoyng CB, Cremers FPM. Runhart EH, et al. Among authors: lugtenberg d. Invest Ophthalmol Vis Sci. 2018 Jul 2;59(8):3220-3231. doi: 10.1167/iovs.18-23881. Invest Ophthalmol Vis Sci. 2018. PMID: 29971439
CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation.
Mukhopadhyay A, Kramer JM, Merkx G, Lugtenberg D, Smeets DF, Oortveld MA, Blokland EA, Agrawal J, Schenck A, van Bokhoven H, Huys E, Schoenmakers EF, van Kessel AG, van Nouhuys CE, Cremers FP. Mukhopadhyay A, et al. Among authors: lugtenberg d. Hum Genet. 2010 Sep;128(3):281-91. doi: 10.1007/s00439-010-0848-x. Epub 2010 Jun 22. Hum Genet. 2010. PMID: 20563892 Free PMC article.
Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.
Feenstra I, Hanemaaijer N, Sikkema-Raddatz B, Yntema H, Dijkhuizen T, Lugtenberg D, Verheij J, Green A, Hordijk R, Reardon W, Vries Bd, Brunner H, Bongers E, Leeuw Nd, van Ravenswaaij-Arts C. Feenstra I, et al. Among authors: lugtenberg d. Eur J Hum Genet. 2011 Nov;19(11):1152-60. doi: 10.1038/ejhg.2011.120. Epub 2011 Jun 29. Eur J Hum Genet. 2011. PMID: 21712853 Free PMC article.
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.
Neveling K, Feenstra I, Gilissen C, Hoefsloot LH, Kamsteeg EJ, Mensenkamp AR, Rodenburg RJ, Yntema HG, Spruijt L, Vermeer S, Rinne T, van Gassen KL, Bodmer D, Lugtenberg D, de Reuver R, Buijsman W, Derks RC, Wieskamp N, van den Heuvel B, Ligtenberg MJ, Kremer H, Koolen DA, van de Warrenburg BP, Cremers FP, Marcelis CL, Smeitink JA, Wortmann SB, van Zelst-Stams WA, Veltman JA, Brunner HG, Scheffer H, Nelen MR. Neveling K, et al. Among authors: lugtenberg d. Hum Mutat. 2013 Dec;34(12):1721-6. doi: 10.1002/humu.22450. Epub 2013 Oct 18. Hum Mutat. 2013. PMID: 24123792
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.
Roosing S, Lamers IJ, de Vrieze E, van den Born LI, Lambertus S, Arts HH; POC1B Study Group; Peters TA, Hoyng CB, Kremer H, Hetterschijt L, Letteboer SJ, van Wijk E, Roepman R, den Hollander AI, Cremers FP. Roosing S, et al. Am J Hum Genet. 2014 Aug 7;95(2):131-42. doi: 10.1016/j.ajhg.2014.06.012. Epub 2014 Jul 10. Am J Hum Genet. 2014. PMID: 25018096 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. Among authors: lugtenberg d. 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.
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.
Haer-Wigman L, den Ouden A, van Genderen MM, Kroes HY, Verheij J, Smailhodzic D, Hoekstra AS, Vijzelaar R, Blom J, Derks R, Tjon-Pon-Fong M, Yntema HG, Nelen MR, Vissers LELM, Lugtenberg D, Neveling K. Haer-Wigman L, et al. Among authors: lugtenberg d. NPJ Genom Med. 2022 Nov 9;7(1):65. doi: 10.1038/s41525-022-00334-9. NPJ Genom Med. 2022. PMID: 36351915 Free PMC article.
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Pfundt R, Del Rosario M, Vissers LELM, Kwint MP, Janssen IM, de Leeuw N, Yntema HG, Nelen MR, Lugtenberg D, Kamsteeg EJ, Wieskamp N, Stegmann APA, Stevens SJC, Rodenburg RJT, Simons A, Mensenkamp AR, Rinne T, Gilissen C, Scheffer H, Veltman JA Prof Dr, Hehir-Kwa JY. Pfundt R, et al. Among authors: lugtenberg d. Genet Med. 2017 Jun;19(6):667-675. doi: 10.1038/gim.2016.163. Epub 2016 Oct 27. Genet Med. 2017. PMID: 28574513 Free PMC article.
48 results