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Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.
de Bruijn SE, Rodenburg K, Corominas J, Ben-Yosef T, Reurink J, Kremer H, Whelan L, Plomp AS, Berger W, Farrar GJ, Ferenc Kovács Á, Fajardy I, Hitti-Malin RJ, Weisschuh N, Weener ME, Sharon D, Pennings RJE, Haer-Wigman L, Hoyng CB, Nelen MR, Vissers LELM, van den Born LI, Gilissen C, Cremers FPM, Hoischen A, Neveling K, Roosing S. de Bruijn SE, et al. Among authors: pennings rje. Genet Med. 2023 Mar;25(3):100345. doi: 10.1016/j.gim.2022.11.013. Epub 2022 Dec 16. Genet Med. 2023. PMID: 36524988 Free article.
Molecular characterization of WFS1 in patients with Wolfram syndrome.
van ven Ouweland JM, Cryns K, Pennings RJ, Walraven I, Janssen GM, Maassen JA, Veldhuijzen BF, Arntzenius AB, Lindhout D, Cremers CW, Van Camp G, Dikkeschei LD. van ven Ouweland JM, et al. J Mol Diagn. 2003 May;5(2):88-95. doi: 10.1016/s1525-1578(10)60457-6. J Mol Diagn. 2003. PMID: 12707373 Free PMC article.
Hearing impairment in Usher syndrome type II.
Pennings RJ, Huygen PL, Cremers WR. Pennings RJ, et al. Ann Otol Rhinol Laryngol. 2003 Sep;112(9 Pt 1):825. doi: 10.1177/000348940311200915. Ann Otol Rhinol Laryngol. 2003. PMID: 14535570 No abstract available.
Cervical dystonia after ear surgery.
van Gaalen J, Pennings RJ, Beynon AJ, Münchau A, Bloem BR, van de Warrenburg BP. van Gaalen J, et al. Parkinsonism Relat Disord. 2012 Jun;18(5):669-71. doi: 10.1016/j.parkreldis.2011.10.004. Epub 2011 Oct 22. Parkinsonism Relat Disord. 2012. PMID: 22018913
Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a.
Pennings RJ, Huygen PL, Orten DJ, Wagenaar M, van Aarem A, Kremer H, Kimberling WJ, Cremers CW, Deutman AF. Pennings RJ, et al. Acta Ophthalmol Scand. 2004 Apr;82(2):131-9. doi: 10.1111/j.1600-0420.2004.00234.x. Acta Ophthalmol Scand. 2004. PMID: 15043528 Free article.
116 results